#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_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_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_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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AGAP2	116986	hgsc.bcm.edu;ucsc.edu	37	12	58126199	58126199	+	Missense_Mutation	SNP	G	G	A	rs138992134		TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr12:58126199G>A	ENST00000547588.1	-	7	1780	c.1781C>T	c.(1780-1782)cCg>cTg	p.P594L	AGAP2_ENST00000257897.3_Missense_Mutation_p.P258L	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	594					axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GCCAGCTACCGGAGTGGATGC	0.612																																																	0													27.0	23.0	24.0					12																	58126199		2202	4299	6501	SO:0001583	missense	116986			AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1781C>T	12.37:g.58126199G>A	ENSP00000449241:p.Pro594Leu		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228487	0.58777	.	.	ENSG00000135439	ENST00000257897;ENST00000547588	T;T	0.28454	1.61;1.61	5.06	4.15	0.48705	.	0.065645	0.64402	D	0.000009	T	0.28962	0.0719	L	0.46157	1.445	0.80722	D	1	P;P;P	0.50710	0.938;0.608;0.669	B;B;B	0.43052	0.406;0.18;0.195	T	0.05022	-1.0911	10	0.51188	T	0.08	.	12.1994	0.54315	0.0853:0.0:0.9147:0.0	.	258;594;594	Q99490-2;F8VVT9;Q99490	.;.;AGAP2_HUMAN	L	258;594	ENSP00000257897:P258L;ENSP00000449241:P594L	ENSP00000257897:P258L	P	-	2	0	AGAP2	56412466	1.000000	0.71417	0.994000	0.49952	0.860000	0.49131	4.914000	0.63348	2.532000	0.85374	0.655000	0.94253	CCG		0.612	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1		NM_014770	
ALOXE3	59344	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8021249	8021249	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr17:8021249G>T	ENST00000448843.2	-	2	400	c.60C>A	c.(58-60)gaC>gaA	p.D20E	ALOXE3_ENST00000380149.1_Missense_Mutation_p.D176E|ALOXE3_ENST00000318227.3_Missense_Mutation_p.D152E	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	20	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.D152E(1)|p.D20E(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAGAGATGTTGTCCAGTGTGC	0.617																																																	2	Substitution - Missense(2)	kidney(2)											56.0	39.0	45.0					17																	8021249		2203	4300	6503	SO:0001583	missense	59344			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.60C>A	17.37:g.8021249G>T	ENSP00000400581:p.Asp20Glu		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440363	0.83993	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	T;T;T	0.23754	1.89;1.89;1.89	4.95	1.31	0.21738	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.205401	0.49916	D	0.000125	T	0.50120	0.1597	M	0.85197	2.74	0.36246	D	0.853618	D;D;D	0.89917	0.987;1.0;1.0	D;D;D	0.79108	0.95;0.992;0.992	T	0.62348	-0.6873	10	0.87932	D	0	-26.5548	10.2624	0.43434	0.2745:0.0:0.7255:0.0	.	152;20;20	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	E	176;152;20	ENSP00000369494:D176E;ENSP00000314879:D152E;ENSP00000400581:D20E	ENSP00000314879:D152E	D	-	3	2	ALOXE3	7961974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.677000	0.46892	0.469000	0.27268	0.561000	0.74099	GAC		0.617	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			
Unknown	0	hgsc.bcm.edu	37	2	98124519	98124519	+	IGR	DEL	T	T	-			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr2:98124519delT								AC159540.1 (33470 upstream) : ANKRD36B (39508 downstream)																							TGATCCTGTATTTCTTGAAAC	0.289																																																	0													0.0	1.0	1.0					2																	98124519		0	3	3	SO:0001628	intergenic_variant	57730																															2.37:g.98124519delT				Frame_Shift_Del	DEL		37																																																																																				0	0.289									
AQP4	361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	24436385	24436385	+	Silent	SNP	T	T	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr18:24436385T>A	ENST00000383168.4	-	5	890	c.762A>T	c.(760-762)ccA>ccT	p.P254P	AQP4_ENST00000581374.1_Silent_p.P232P|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Silent_p.P232P|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	254					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.P254P(1)		kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					ATTCAACATCTGGACAGAAGA	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											133.0	125.0	128.0					18																	24436385		2203	4300	6503	SO:0001819	synonymous_variant	361			U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.762A>T	18.37:g.24436385T>A			P78564	Silent	SNP	ENST00000383168.4	37	CCDS11889.1																																																																																				0.458	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2		NM_001650, NM_004028	
ARHGAP26	23092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	142526819	142526819	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr5:142526819A>T	ENST00000274498.4	+	20	2239	c.1861A>T	c.(1861-1863)Aac>Tac	p.N621Y	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.N621Y	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	621	Ser-rich.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.N621Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCATCATCAACTCCAGTTT	0.443																																																	1	Substitution - Missense(1)	kidney(1)											141.0	132.0	135.0					5																	142526819		2203	4300	6503	SO:0001583	missense	23092			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1861A>T	5.37:g.142526819A>T	ENSP00000274498:p.Asn621Tyr		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.564073	0.65651	.	.	ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000418668	T;T	0.08546	3.08;3.11	5.31	2.91	0.33838	.	0.752852	0.13438	N	0.387935	T	0.06781	0.0173	L	0.29908	0.895	0.41356	D	0.98739	P;P;P	0.39576	0.679;0.454;0.589	B;B;B	0.37047	0.188;0.188;0.24	T	0.39251	-0.9623	10	0.45353	T	0.12	.	8.8585	0.35242	0.8422:0.0:0.1578:0.0	.	621;194;621	Q9UNA1;B3KT96;Q9UNA1-2	RHG26_HUMAN;.;.	Y	621;621;194	ENSP00000274498:N621Y;ENSP00000367243:N621Y	ENSP00000274498:N621Y	N	+	1	0	ARHGAP26	142507012	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	3.100000	0.50275	0.950000	0.37743	0.533000	0.62120	AAC		0.443	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3		NM_015071	
CPED1	79974	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	120765873	120765873	+	Splice_Site	SNP	G	G	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr7:120765873G>T	ENST00000310396.5	+	9	1528		c.e9-1		CPED1_ENST00000423795.1_Splice_Site|CPED1_ENST00000450913.2_Splice_Site	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1							endoplasmic reticulum (GO:0005783)		p.?(1)									TTTCATTTTAGATGCAGATTC	0.373																																																	1	Unknown(1)	kidney(1)											188.0	160.0	170.0					7																	120765873		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1062-1G>T	7.37:g.120765873G>T			A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Splice_Site	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789354	0.70337	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7368	0.91757	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C7orf58	120553109	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	6.095000	0.71439	2.598000	0.87819	0.655000	0.94253	.		0.373	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1		NM_024913	Intron
CAMK2G	818	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75612974	75612974	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr10:75612974C>G	ENST00000351293.3	-	4	308	c.251G>C	c.(250-252)gGg>gCg	p.G84A	CAMK2G_ENST00000372765.1_Missense_Mutation_p.G84A|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Missense_Mutation_p.G84A|CAMK2G_ENST00000322635.3_Missense_Mutation_p.G84A|CAMK2G_ENST00000322680.3_Missense_Mutation_p.G84A|CAMK2G_ENST00000472912.1_Intron|CAMK2G_ENST00000305762.7_Missense_Mutation_p.G84A|CAMK2G_ENST00000423381.1_Missense_Mutation_p.G84A	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	84	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)	p.G84A(2)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	GTAGTGAAACCCTTCTTCAGA	0.493																																																	2	Substitution - Missense(2)	kidney(2)											128.0	114.0	119.0					10																	75612974		2203	4300	6503	SO:0001583	missense	818			U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.251G>C	10.37:g.75612974C>G	ENSP00000277853:p.Gly84Ala		O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Missense_Mutation	SNP	ENST00000351293.3	37	CCDS7336.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021229	0.93462	.	.	ENSG00000148660	ENST00000351293;ENST00000322635;ENST00000423381;ENST00000394763;ENST00000322680;ENST00000394762;ENST00000433289;ENST00000305762;ENST00000372765	T;T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74;1.74	5.84	5.84	0.93424	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	0.36580	0.0972	N	0.12611	0.24	0.80722	D	1	D;B;D;P;P;P;B;D	0.89917	0.97;0.185;1.0;0.7;0.722;0.879;0.148;0.992	P;B;D;B;B;P;B;P	0.97110	0.749;0.168;1.0;0.278;0.399;0.729;0.064;0.869	T	0.36625	-0.9740	10	0.56958	D	0.05	.	19.7229	0.96150	0.0:1.0:0.0:0.0	.	76;84;84;84;84;84;84;84	B3KY86;Q13555-4;Q13555-6;Q13555-10;A8K6N9;Q13555;Q13555-5;Q13555-8	.;.;.;.;.;KCC2G_HUMAN;.;.	A	84;84;84;84;84;84;19;84;84	ENSP00000277853:G84A;ENSP00000315599:G84A;ENSP00000410298:G84A;ENSP00000319060:G84A;ENSP00000378243:G84A;ENSP00000393784:G19A;ENSP00000307082:G84A;ENSP00000361851:G84A	ENSP00000307082:G84A	G	-	2	0	CAMK2G	75282980	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.799000	0.69101	2.768000	0.95171	0.561000	0.74099	GGG		0.493	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1		NM_172169	
CASQ2	845	hgsc.bcm.edu;ucsc.edu	37	1	116243990	116243991	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr1:116243990_116243991insCA	ENST00000261448.5	-	11	1310_1311	c.1071_1072insTG	c.(1069-1074)gagctgfs	p.L358fs	CASQ2_ENST00000456138.2_Frame_Shift_Ins_p.L287fs	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	358	Asp/Glu-rich (acidic).				cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CAGTCCTCCAGCTCCTCAGCAG	0.436																																																	0																																										SO:0001589	frameshift_variant	845			BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.1071_1072insTG	1.37:g.116243990_116243991insCA	ENSP00000261448:p.Leu358fs		B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Frame_Shift_Ins	INS	ENST00000261448.5	37	CCDS884.1																																																																																				0.436	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1		NM_001232	
CCDC146	57639	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	76891575	76891575	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr7:76891575G>T	ENST00000285871.4	+	9	1251	c.1124G>T	c.(1123-1125)tGg>tTg	p.W375L	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.W121L	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	375								p.W375L(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AAAGTGTCCTGGGATGCACTT	0.408																																																	1	Substitution - Missense(1)	kidney(1)											90.0	89.0	89.0					7																	76891575		2203	4300	6503	SO:0001583	missense	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.1124G>T	7.37:g.76891575G>T	ENSP00000285871:p.Trp375Leu		A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	G	2.248	-0.372234	0.05034	.	.	ENSG00000135205	ENST00000285871;ENST00000431197	T;T	0.27256	1.68;1.68	5.78	-11.6	0.00059	.	2.251410	0.01182	N	0.007113	T	0.06508	0.0167	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.22626	-1.0211	10	0.23891	T	0.37	17.977	6.7042	0.23242	0.07:0.2814:0.0886:0.56	.	121;375	Q8IYE0-2;Q8IYE0	.;CC146_HUMAN	L	375;121	ENSP00000285871:W375L;ENSP00000413885:W121L	ENSP00000285871:W375L	W	+	2	0	AC007000.1	76729511	0.000000	0.05858	0.000000	0.03702	0.606000	0.37113	-1.213000	0.02991	-2.200000	0.00747	-0.309000	0.09137	TGG		0.408	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1		NM_020879	
CDH18	1016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	19747190	19747190	+	Silent	SNP	A	A	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr5:19747190A>C	ENST00000507958.1	-	6	1374	c.384T>G	c.(382-384)gcT>gcG	p.A128A	CDH18_ENST00000274170.4_Silent_p.A128A|CDH18_ENST00000502796.1_Silent_p.A128A|CDH18_ENST00000382275.1_Silent_p.A128A|CDH18_ENST00000511273.1_Silent_p.A128A|CDH18_ENST00000506372.1_Silent_p.A128A			Q13634	CAD18_HUMAN	cadherin 18, type 2	128	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|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.A128A(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CAATAGCTTGAGCATGAAGCA	0.433																																																	2	Substitution - coding silent(2)	kidney(2)											246.0	220.0	229.0					5																	19747190		2203	4300	6503	SO:0001819	synonymous_variant	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.384T>G	5.37:g.19747190A>C			A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	CCDS3889.1																																																																																				0.433	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1		NM_004934	
COL6A6	131873	hgsc.bcm.edu	37	3	130318620	130318621	+	Frame_Shift_Ins	INS	-	-	C	rs112135798	byFrequency	TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr3:130318620_130318621insC	ENST00000358511.6	+	19	4650_4651	c.4619_4620insC	c.(4618-4623)ggccccfs	p.GP1540fs	COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.GP1540fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1540	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGCTGGCCAGGCCCCCCCGGGA	0.5																																																	0																																										SO:0001589	frameshift_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4626dupC	3.37:g.130318627_130318627dupC	ENSP00000351310:p.Gly1540fs		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Ins	INS	ENST00000358511.6	37	CCDS46911.1																																																																																				0.500	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608	
CUX1	1523	hgsc.bcm.edu;ucsc.edu	37	7	101844801	101844802	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr7:101844801_101844802insC	ENST00000292535.7	+	18	2262_2263	c.2224_2225insC	c.(2224-2226)accfs	p.T742fs	CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Frame_Shift_Ins_p.T686fs|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Frame_Shift_Ins_p.T584fs|CUX1_ENST00000546411.2_Frame_Shift_Ins_p.T640fs|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Frame_Shift_Ins_p.T753fs|CUX1_ENST00000549414.2_Frame_Shift_Ins_p.T720fs	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	742					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CACCATCCTCACCCCCAAGCTT	0.653																																																	0																																										SO:0001589	frameshift_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2229dupC	7.37:g.101844806_101844806dupC	ENSP00000292535:p.Thr742fs		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Frame_Shift_Ins	INS	ENST00000292535.7	37	CCDS5721.1																																																																																				0.653	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1		NM_001913	
CUX1	1523	broad.mit.edu	37	7	101891738	101891738	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr7:101891738A>G	ENST00000292535.7	+	24	3972	c.3934A>G	c.(3934-3936)Agt>Ggt	p.S1312G	CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.S1256G|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.S1154G|CUX1_ENST00000546411.2_Missense_Mutation_p.S1210G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.S1323G|CUX1_ENST00000549414.2_Missense_Mutation_p.S1290G	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1312					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.S1312G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCAGGCCGGGAGTCAGGGCCA	0.697																																																	1	Substitution - Missense(1)	kidney(1)											12.0	13.0	12.0					7																	101891738		2157	4188	6345	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3934A>G	7.37:g.101891738A>G	ENSP00000292535:p.Ser1312Gly		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.188383	0.38609	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.60797	0.17;0.16;0.17;0.17;0.17;0.17	3.96	2.81	0.32909	Homeodomain-like (1);	0.178001	0.49916	D	0.000121	T	0.45256	0.1333	L	0.50333	1.59	0.80722	D	1	B;B	0.11235	0.0;0.004	B;B	0.13407	0.001;0.009	T	0.21415	-1.0246	10	0.17832	T	0.49	-1.5633	7.3677	0.26783	0.8145:0.0:0.1855:0.0	.	1312;1323	P39880;P39880-3	CUX1_HUMAN;.	G	1323;1312;1290;1256;1210;1154	ENSP00000353401:S1323G;ENSP00000292535:S1312G;ENSP00000446630:S1290G;ENSP00000447373:S1256G;ENSP00000450125:S1210G;ENSP00000451558:S1154G	ENSP00000292535:S1312G	S	+	1	0	CUX1	101678458	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	3.993000	0.56987	0.580000	0.29522	0.459000	0.35465	AGT		0.697	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1		NM_001913	
DCDC1	341019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	31327871	31327871	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr11:31327871G>T	ENST00000452803.1	-	5	700	c.499C>A	c.(499-501)Cac>Aac	p.H167N	DCDC1_ENST00000597505.1_Missense_Mutation_p.H167N|RP1-296L11.1_ENST00000528872.1_RNA	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1	167					intracellular signal transduction (GO:0035556)			p.H167N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGAAGTTTGTGTCTTTGAGAC	0.378																																																	1	Substitution - Missense(1)	kidney(1)											113.0	109.0	110.0					11																	31327871		2202	4299	6501	SO:0001583	missense	341019			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.499C>A	11.37:g.31327871G>T	ENSP00000389792:p.His167Asn		A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000452803.1	37	CCDS7872.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620349	0.28801	.	.	ENSG00000188682	ENST00000452803	D	0.93019	-3.15	5.95	-1.82	0.07857	Doublecortin domain (1);	1.403820	0.04407	N	0.365375	D	0.87819	0.6273	L	0.51422	1.61	0.09310	N	1	B	0.28178	0.202	B	0.21917	0.037	T	0.72447	-0.4291	10	0.30078	T	0.28	.	0.8975	0.01266	0.2839:0.0994:0.3087:0.3079	.	167	P59894	DCDC1_HUMAN	N	167	ENSP00000389792:H167N	ENSP00000343496:H167N	H	-	1	0	DCDC1	31284447	0.996000	0.38824	0.270000	0.24601	0.978000	0.69477	0.297000	0.19101	0.022000	0.15160	0.650000	0.86243	CAC		0.378	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1		NM_181807	
DMGDH	29958	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	78350168	78350168	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr5:78350168C>G	ENST00000255189.3	-	4	407	c.379G>C	c.(379-381)Gtg>Ctg	p.V127L	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000520388.1_5'Flank	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	127					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)	p.V127L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TGGAATCCCACCACCTGTGAC	0.413																																																	1	Substitution - Missense(1)	kidney(1)											64.0	59.0	60.0					5																	78350168		2203	4300	6503	SO:0001583	missense	29958			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.379G>C	5.37:g.78350168C>G	ENSP00000255189:p.Val127Leu		B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265022	0.80358	.	.	ENSG00000132837	ENST00000255189	T	0.81330	-1.48	5.55	5.55	0.83447	FAD dependent oxidoreductase (1);	0.000000	0.85682	D	0.000000	T	0.78214	0.4248	L	0.43152	1.355	0.80722	D	1	B	0.32188	0.359	B	0.34722	0.188	T	0.76350	-0.2991	10	0.45353	T	0.12	.	19.5026	0.95103	0.0:1.0:0.0:0.0	.	127	Q9UI17	M2GD_HUMAN	L	127	ENSP00000255189:V127L	ENSP00000255189:V127L	V	-	1	0	DMGDH	78385924	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.880000	0.63107	2.587000	0.87381	0.655000	0.94253	GTG		0.413	DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3		NM_013391	
DOCK10	55619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	225637922	225637922	+	Silent	SNP	C	C	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr2:225637922C>T	ENST00000258390.7	-	53	6223	c.6156G>A	c.(6154-6156)gtG>gtA	p.V2052V	DOCK10_ENST00000409592.3_Silent_p.V2046V	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2052	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V559V(2)|p.V2050V(2)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGATCATGTCCACTTCTTCCA	0.473																																																	4	Substitution - coding silent(4)	kidney(4)											111.0	106.0	108.0					2																	225637922		2175	4275	6450	SO:0001819	synonymous_variant	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.6156G>A	2.37:g.225637922C>T			B3FL70|O75178|Q9NW06|Q9NXI8	Silent	SNP	ENST00000258390.7	37	CCDS46528.1																																																																																				0.473	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			
DOCK4	9732	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	111509659	111509659	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr7:111509659G>A	ENST00000437633.1	-	21	2336	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.R694W	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	694					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.R682W(1)|p.R694W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGCTCTTGCCGCTCTGCTTCT	0.423																																																	2	Substitution - Missense(2)	kidney(2)											162.0	146.0	151.0					7																	111509659		2017	4188	6205	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2080C>T	7.37:g.111509659G>A	ENSP00000404179:p.Arg694Trp		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025908	0.75390	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.42513	0.97;0.97	5.3	2.41	0.29592	.	0.452954	0.23176	N	0.051079	T	0.53286	0.1787	M	0.79475	2.455	0.58432	D	0.999991	D;P;D;D	0.59767	0.986;0.952;0.978;0.972	P;B;P;P	0.54100	0.582;0.393;0.556;0.742	T	0.55055	-0.8200	10	0.87932	D	0	.	8.8727	0.35325	0.07:0.0:0.5338:0.3962	.	694;694;694;694	Q149N2;Q149N5;Q8N1I0;Q8N1I0-2	.;.;DOCK4_HUMAN;.	W	682;694;694;682;693	ENSP00000410746:R694W;ENSP00000404179:R694W	ENSP00000345432:R682W	R	-	1	2	DOCK4	111296895	0.970000	0.33590	0.990000	0.47175	0.994000	0.84299	1.738000	0.38207	0.339000	0.23719	0.650000	0.86243	CGG		0.423	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4		NM_014705	
FAM58BP	339521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200183197	200183197	+	IGR	SNP	C	C	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr1:200183197C>G								NR5A2 (36645 upstream) : RP11-532L16.3 (101365 downstream)																							CAGCGGACCCCCGTTGCCGTC	0.632																																																	0													38.0	40.0	39.0					1																	200183197		2203	4300	6503	SO:0001628	intergenic_variant	0																															1.37:g.200183197C>G				Missense_Mutation	SNP		37																																																																																				0	0.632									
FCN1	2219	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	137805435	137805435	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr9:137805435C>G	ENST00000371806.3	-	5	423	c.332G>C	c.(331-333)tGt>tCt	p.C111S		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	111	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.C111S(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		ACCTGTCGCACACGACTGAGA	0.592																																																	1	Substitution - Missense(1)	kidney(1)											111.0	78.0	89.0					9																	137805435		2203	4300	6503	SO:0001583	missense	2219			D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.332G>C	9.37:g.137805435C>G	ENSP00000360871:p.Cys111Ser		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	C	5.244	0.230570	0.09969	.	.	ENSG00000085265	ENST00000371807;ENST00000371806;ENST00000308299	D	0.93076	-3.16	2.77	2.77	0.32553	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	D	0.90762	0.7100	M	0.80982	2.52	0.09310	N	1	B	0.26635	0.155	B	0.17722	0.019	T	0.78922	-0.2013	9	0.10111	T	0.7	.	9.1877	0.37180	0.0:1.0:0.0:0.0	.	111	O00602	FCN1_HUMAN	S	111;111;99	ENSP00000360871:C111S	ENSP00000308877:C99S	C	-	2	0	FCN1	136945256	0.043000	0.20138	0.015000	0.15790	0.008000	0.06430	1.334000	0.33827	1.860000	0.53959	0.478000	0.44815	TGT		0.592	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1		NM_002003	
FPGT	8790	broad.mit.edu;ucsc.edu	37	1	74670342	74670342	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr1:74670342G>A	ENST00000609362.1	+	4	648	c.611G>A	c.(610-612)gGa>gAa	p.G204E	FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.G217E|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370894.5_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	204					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)	p.G204E(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						ACCACACATGGAGTATTTGTC	0.363																																																	1	Substitution - Missense(1)	kidney(1)											104.0	102.0	103.0					1																	74670342		2203	4300	6503	SO:0001583	missense	8790			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.611G>A	1.37:g.74670342G>A	ENSP00000476680:p.Gly204Glu		A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	CCDS663.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.390751	0.82902	.	.	ENSG00000254685	ENST00000370898	T	0.71579	-0.58	5.57	5.57	0.84162	L-fucokinase (1);	.	.	.	.	D	0.84456	0.5476	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85024	0.0913	8	.	.	.	.	19.5527	0.95328	0.0:0.0:1.0:0.0	.	204	O14772	FPGT_HUMAN	E	204	ENSP00000359935:G204E	.	G	+	2	0	TNNI3K	74442930	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.618000	0.88619	0.591000	0.81541	GGA		0.363	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
GABRA5	2558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	27193284	27193284	+	Silent	SNP	C	C	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr15:27193284C>A	ENST00000335625.5	+	11	2181	c.1293C>A	c.(1291-1293)atC>atA	p.I431I	GABRA5_ENST00000400081.3_Silent_p.I431I|GABRA5_ENST00000355395.5_Silent_p.I431I	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	431					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)	p.I431I(2)		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)	TGTCCCGAATCGTATTCCCAG	0.428																																																	2	Substitution - coding silent(2)	endometrium(1)|kidney(1)											43.0	41.0	41.0					15																	27193284		1835	4096	5931	SO:0001819	synonymous_variant	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.1293C>A	15.37:g.27193284C>A			A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	CCDS45194.1																																																																																				0.428	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			
GOLGA6L3	100133220	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C	rs62009901		TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr15:83014106T>C	ENST00000557886.1	-	6	576	c.477A>G	c.(475-477)gtA>gtG	p.V159V															p.V159V(12)		endometrium(6)|kidney(5)|prostate(1)	12						GTAGCTGCTCTACCTTAGATG	0.498																																																	12	Substitution - coding silent(12)	kidney(6)|endometrium(4)|prostate(2)																																								SO:0001819	synonymous_variant	647042																														ENST00000557886.1:c.477A>G	15.37:g.83014106T>C				Silent	SNP	ENST00000557886.1	37																																																																																					0.498	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1			
HLA-DRB5	3127	hgsc.bcm.edu	37	6	32489835	32489835	+	Missense_Mutation	SNP	C	C	G	rs118111025		TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr6:32489835C>G	ENST00000374975.3	-	2	279	c.217G>C	c.(217-219)Gtg>Ctg	p.V73L		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TACTCCCCCACGTCGCTGTCG	0.607																																																	0													36.0	33.0	34.0					6																	32489835		2143	4180	6323	SO:0001583	missense	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.217G>C	6.37:g.32489835C>G	ENSP00000364114:p.Val73Leu			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	268	0.1227106227106227	29	0.05894308943089431	51	0.1408839779005525	74	0.12937062937062938	114	0.1503957783641161	.	14.82	2.649733	0.47362	.	.	ENSG00000198502	ENST00000374975	T	0.00377	7.68	4.81	1.69	0.24217	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	0.657384	0.14883	N	0.292859	T	0.00144	0.0004	M	0.69248	2.105	0.38760	D	0.954306	B	0.10296	0.003	B	0.16722	0.016	T	0.46884	-0.9159	10	0.52906	T	0.07	.	8.9548	0.35812	0.1602:0.5493:0.2905:0.0	.	73	Q30154	DRB5_HUMAN	L	73	ENSP00000364114:V73L	ENSP00000364114:V73L	V	-	1	0	HLA-DRB5	32597813	0.000000	0.05858	0.806000	0.32338	0.934000	0.57294	-1.462000	0.02364	0.372000	0.24591	0.430000	0.28490	GTG		0.607	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2		NM_002125	
IP6K3	117283	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	33693343	33693343	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr6:33693343G>C	ENST00000293756.4	-	5	966	c.640C>G	c.(640-642)Ctg>Gtg	p.L214V	IP6K3_ENST00000451316.1_Missense_Mutation_p.L214V	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	214	Substrate binding. {ECO:0000250}.				inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.L214V(1)		skin(1)	1						TTCAGATCCAGGACACAGGGA	0.552																																																	1	Substitution - Missense(1)	kidney(1)											96.0	84.0	88.0					6																	33693343		2203	4300	6503	SO:0001583	missense	117283			AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.640C>G	6.37:g.33693343G>C	ENSP00000293756:p.Leu214Val		Q96MQ9	Missense_Mutation	SNP	ENST00000293756.4	37	CCDS34435.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584006	0.65992	.	.	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.26067	1.76;1.76	5.82	3.03	0.35002	.	0.134831	0.33610	N	0.004731	T	0.43255	0.1239	M	0.90542	3.125	0.44918	D	0.997937	D	0.89917	1.0	D	0.87578	0.998	T	0.49312	-0.8953	10	0.87932	D	0	-24.5588	8.6706	0.34147	0.3674:0.0:0.6326:0.0	.	214	Q96PC2	IP6K3_HUMAN	V	214	ENSP00000398861:L214V;ENSP00000293756:L214V	ENSP00000293756:L214V	L	-	1	2	IP6K3	33801321	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	1.356000	0.34079	0.352000	0.24053	0.655000	0.94253	CTG		0.552	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1		NM_054111	
KCNJ2	3759	broad.mit.edu;ucsc.edu	37	17	68171679	68171679	+	Missense_Mutation	SNP	G	G	A	rs140147979		TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr17:68171679G>A	ENST00000243457.3	+	2	882	c.499G>A	c.(499-501)Gtg>Atg	p.V167M	KCNJ2_ENST00000535240.1_Missense_Mutation_p.V167M	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	167					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)	p.V167M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CCAGTCAATCGTGGGCTGCAT	0.483																																																	1	Substitution - Missense(1)	kidney(1)						G	MET/VAL	0,4406		0,0,2203	184.0	166.0	172.0		499	6.0	1.0	17	dbSNP_134	172	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNJ2	NM_000891.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	167/428	68171679	1,13005	2203	4300	6503	SO:0001583	missense	3759			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.499G>A	17.37:g.68171679G>A	ENSP00000243457:p.Val167Met		O15110|P48049	Missense_Mutation	SNP	ENST00000243457.3	37	CCDS11688.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693140	0.48202	0.0	1.16E-4	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.95001	-3.58;-3.58	5.96	5.96	0.96718	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.91971	0.7457	L	0.60455	1.87	0.80722	D	1	P	0.42993	0.797	B	0.31016	0.123	D	0.91123	0.4931	9	.	.	.	.	20.4043	0.99006	0.0:0.0:1.0:0.0	.	167	P63252	IRK2_HUMAN	M	167	ENSP00000441848:V167M;ENSP00000243457:V167M	.	V	+	1	0	KCNJ2	65683274	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.869000	0.99810	2.823000	0.97156	0.650000	0.86243	GTG		0.483	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1		NM_000891	
KCNQ1	3784	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	2606466	2606466	+	Silent	SNP	C	C	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr11:2606466C>T	ENST00000155840.5	+	8	1165	c.1057C>T	c.(1057-1059)Ctg>Ttg	p.L353L	KCNQ1_ENST00000335475.5_Silent_p.L226L	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	353			L -> P (in LQT1). {ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:9693036}.		atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.L353L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GGGGTTTGCCCTGAAGGTGCA	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											112.0	105.0	108.0					11																	2606466		2202	4299	6501	SO:0001819	synonymous_variant	3784			AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1057C>T	11.37:g.2606466C>T			O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Silent	SNP	ENST00000155840.5	37	CCDS7736.1																																																																																				0.632	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2		NM_000218	
KIDINS220	57498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	8871251	8871251	+	Missense_Mutation	SNP	T	T	C	rs376497503		TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr2:8871251T>C	ENST00000256707.3	-	30	5096	c.4915A>G	c.(4915-4917)Att>Gtt	p.I1639V	KIDINS220_ENST00000427284.1_Missense_Mutation_p.I1620V|KIDINS220_ENST00000418530.1_Missense_Mutation_p.I1540V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.I1620V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1639					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.I1639V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CGAGCTATAATTGGATCTTGC	0.498																																																	1	Substitution - Missense(1)	kidney(1)						T	VAL/ILE	0,3894		0,0,1947	82.0	75.0	77.0		4915	-11.8	0.0	2		77	1,8265		0,1,4132	no	missense	KIDINS220	NM_020738.2	29	0,1,6079	CC,CT,TT		0.0121,0.0,0.0082	benign	1639/1772	8871251	1,12159	1947	4133	6080	SO:0001583	missense	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4915A>G	2.37:g.8871251T>C	ENSP00000256707:p.Ile1639Val		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	4.891	0.165609	0.09339	0.0	1.21E-4	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.64438	-0.1;-0.07;-0.03;-0.07	5.92	-11.8	0.00035	.	1.602060	0.03163	N	0.169542	T	0.31796	0.0808	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.47156	-0.9139	10	0.02654	T	1	.	16.1785	0.81885	0.0:0.5241:0.3241:0.1518	.	1540;1639;493	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	V	1639;1620;1540;1620	ENSP00000256707:I1639V;ENSP00000411849:I1620V;ENSP00000414923:I1540V;ENSP00000418974:I1620V	ENSP00000256707:I1639V	I	-	1	0	KIDINS220	8788702	0.000000	0.05858	0.000000	0.03702	0.921000	0.55340	-2.264000	0.01173	-3.191000	0.00219	-0.256000	0.11100	ATT		0.498	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2		NM_020738	
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																																	3	Deletion - In frame(3)	prostate(2)|central_nervous_system(1)								1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1		NM_006121	
LRP4	4038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	46916747	46916747	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr11:46916747G>A	ENST00000378623.1	-	11	1521	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	427	EGF-like 2; calcium-binding. {ECO:0000255}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.R427W(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGGTCGGGCCGTAGTTCATAG	0.612																																																	1	Substitution - Missense(1)	kidney(1)											90.0	84.0	86.0					11																	46916747		2201	4299	6500	SO:0001583	missense	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1279C>T	11.37:g.46916747G>A	ENSP00000367888:p.Arg427Trp		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069749	0.76301	.	.	ENSG00000134569	ENST00000378623	D	0.87412	-2.25	5.71	3.68	0.42216	Growth factor, receptor (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);	0.123714	0.53938	D	0.000042	D	0.91740	0.7388	M	0.67569	2.06	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.92600	0.6090	10	0.72032	D	0.01	.	14.3589	0.66757	0.0:0.0:0.7308:0.2692	.	427	O75096	LRP4_HUMAN	W	427	ENSP00000367888:R427W	ENSP00000367888:R427W	R	-	1	2	LRP4	46873323	1.000000	0.71417	0.875000	0.34327	0.739000	0.42172	3.053000	0.49901	1.360000	0.45960	0.655000	0.94253	CGG		0.612	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1		NM_002334	
MAGEB16	139604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	35820494	35820494	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chrX:35820494C>T	ENST00000399989.1	+	2	460	c.181C>T	c.(181-183)Cct>Tct	p.P61S	MAGEB16_ENST00000399985.1_Missense_Mutation_p.P61S|MAGEB16_ENST00000399987.1_Missense_Mutation_p.P61S|MAGEB16_ENST00000399992.1_Missense_Mutation_p.P93S|MAGEB16_ENST00000399988.1_Missense_Mutation_p.P61S	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	61								p.P228S(1)|p.P228T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GGCAGAGAGTCCTCTTGAGGT	0.527																																																	2	Substitution - Missense(2)	breast(1)|kidney(1)											47.0	45.0	46.0					X																	35820494		1956	4120	6076	SO:0001583	missense	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.181C>T	X.37:g.35820494C>T	ENSP00000382871:p.Pro61Ser		A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.625394	0.00820	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04917	3.53;3.53;3.53;3.53;3.53	3.13	-4.21	0.03812	Melanoma associated antigen, MAGE, N-terminal (1);	2.365020	0.01875	N	0.037498	T	0.03608	0.0103	N	0.20766	0.605	0.09310	N	1	B	0.24258	0.1	B	0.29077	0.098	T	0.33624	-0.9861	10	0.11182	T	0.66	.	0.1057	0.00052	0.2641:0.1709:0.2316:0.3333	.	61	A2A368	MAGBG_HUMAN	S	61;93;61;61;61	ENSP00000382870:P61S;ENSP00000382874:P93S;ENSP00000382869:P61S;ENSP00000382871:P61S;ENSP00000382867:P61S	ENSP00000382867:P61S	P	+	1	0	MAGEB16	35730415	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.679000	0.00838	-1.082000	0.03101	-2.341000	0.00245	CCT		0.527	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1			
MAN2C1	4123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75655087	75655087	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr15:75655087A>G	ENST00000267978.5	-	7	839	c.793T>C	c.(793-795)Tgg>Cgg	p.W265R	MAN2C1_ENST00000565683.1_Missense_Mutation_p.W265R|MAN2C1_ENST00000569482.1_Missense_Mutation_p.W265R|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000563622.1_Intron	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	265					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.W265R(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GGCCAAAGCCAGGCTATACGG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											53.0	53.0	53.0					15																	75655087		2197	4294	6491	SO:0001583	missense	4123			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.793T>C	15.37:g.75655087A>G	ENSP00000267978:p.Trp265Arg		H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.711761	0.89112	.	.	ENSG00000140400	ENST00000267978	D	0.92595	-3.07	5.56	5.56	0.83823	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.85682	D	0.000000	D	0.97548	0.9197	H	0.97214	3.96	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98903	1.0777	10	0.87932	D	0	-16.3057	14.8832	0.70547	1.0:0.0:0.0:0.0	.	47;265;265	B4DVP6;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	R	265	ENSP00000267978:W265R	ENSP00000267978:W265R	W	-	1	0	MAN2C1	73442140	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.812000	0.91959	2.110000	0.64415	0.459000	0.35465	TGG		0.627	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			
MED13	9969	hgsc.bcm.edu;ucsc.edu	37	17	60039068	60039073	+	In_Frame_Del	DEL	ATTTTA	ATTTTA	-			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	ATTTTA	ATTTTA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr17:60039068_60039073delATTTTA	ENST00000397786.2	-	22	5208_5213	c.5132_5137delTAAAAT	c.(5131-5139)ttaaaatcc>tcc	p.LK1711del		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1711					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAAGCCAGGGATTTTAAATGCTGGGG	0.413																																																	0																																										SO:0001651	inframe_deletion	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5132_5137delTAAAAT	17.37:g.60039068_60039073delATTTTA	ENSP00000380888:p.Leu1711_Lys1712del		B2RU05|O60334	In_Frame_Del	DEL	ENST00000397786.2	37	CCDS42366.1																																																																																				0.413	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1		NM_005121	
METRNL	284207	hgsc.bcm.edu	37	17	81043052	81043053	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr17:81043052_81043053insG	ENST00000320095.7	+	2	534_535	c.409_410insG	c.(409-411)aggfs	p.R137fs	METRNL_ENST00000571814.1_Frame_Shift_Ins_p.R55fs|METRNL_ENST00000570778.1_Frame_Shift_Ins_p.R55fs	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	137					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CGGGGACGGCAGGCCCGGCCGG	0.619																																																	0																																										SO:0001589	frameshift_variant	284207			AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.411dupG	17.37:g.81043054_81043054dupG	ENSP00000315731:p.Arg137fs		B3KSJ5|Q86VM0	Frame_Shift_Ins	INS	ENST00000320095.7	37	CCDS32779.1																																																																																				0.619	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438902.1		NM_001004431	
MFSD6L	162387	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8701942	8701942	+	Missense_Mutation	SNP	C	C	T	rs377452108		TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr17:8701942C>T	ENST00000329805.4	-	1	725	c.497G>A	c.(496-498)cGt>cAt	p.R166H		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	166						integral component of membrane (GO:0016021)		p.R166H(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GTGCAGATCACGGAAAGTTTC	0.567																																																	1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG	0,4406		0,0,2203	114.0	111.0	112.0		497	-1.5	0.0	17		112	2,8598	2.2+/-6.3	0,2,4298	no	missense	MFSD6L	NM_152599.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	166/587	8701942	2,13004	2203	4300	6503	SO:0001583	missense	162387			AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.497G>A	17.37:g.8701942C>T	ENSP00000330051:p.Arg166His		Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102542	0.37145	0.0	2.33E-4	ENSG00000185156	ENST00000329805	T	0.45276	0.9	4.59	-1.48	0.08745	.	1.595440	0.03579	N	0.229768	T	0.26376	0.0644	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.18053	-1.0349	10	0.45353	T	0.12	-16.0297	2.0299	0.03527	0.1175:0.3826:0.2538:0.2461	.	166	Q8IWD5	MFS6L_HUMAN	H	166	ENSP00000330051:R166H	ENSP00000330051:R166H	R	-	2	0	MFSD6L	8642667	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.213000	0.09305	-0.052000	0.13311	0.655000	0.94253	CGT		0.567	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1		NM_152599	
MTRF1L	54516	broad.mit.edu	37	6	153323724	153323724	+	Silent	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr6:153323724G>A	ENST00000367233.5	-	1	96	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L	MTRF1L_ENST00000367230.1_Silent_p.L33L|MTRF1L_ENST00000367231.5_Silent_p.L33L|MTRF1L_ENST00000464135.1_5'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	33						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)	p.L33L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		AGCTCCTCCAGCGGCGGGCTA	0.736																																																	1	Substitution - coding silent(1)	kidney(1)											3.0	3.0	3.0					6																	153323724		1657	3479	5136	SO:0001819	synonymous_variant	54516			BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.97C>T	6.37:g.153323724G>A			B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Silent	SNP	ENST00000367233.5	37	CCDS5243.1																																																																																				0.736	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1		NM_019041	
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9064631	9064631	+	Silent	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr19:9064631G>A	ENST00000397910.4	-	3	23018	c.22815C>T	c.(22813-22815)ccC>ccT	p.P7605P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7607	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P7605P(2)|p.P3238P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGAAATCCTGGGGATGGTTC	0.483																																																	3	Substitution - coding silent(3)	kidney(3)											96.0	91.0	93.0					19																	9064631		1960	4159	6119	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22815C>T	19.37:g.9064631G>A			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
NFKBIZ	64332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	101570960	101570960	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr3:101570960G>C	ENST00000326172.5	+	2	436	c.321G>C	c.(319-321)caG>caC	p.Q107H	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.Q7H|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.Q107H	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	107					inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q107H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GCAGGCAGCAGAGAGGCCCCT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											94.0	98.0	97.0					3																	101570960		2203	4300	6503	SO:0001583	missense	64332			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.321G>C	3.37:g.101570960G>C	ENSP00000325663:p.Gln107His		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	8.387	0.838798	0.16891	.	.	ENSG00000144802	ENST00000461724;ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172;ENST00000491281	T;T;T;T	0.57907	0.58;0.53;0.37;0.57	5.51	3.74	0.42951	.	0.093496	0.47455	D	0.000224	T	0.28101	0.0693	N	0.12746	0.255	0.29906	N	0.824004	B;B	0.13145	0.004;0.007	B;B	0.14023	0.01;0.007	T	0.11275	-1.0594	10	0.27082	T	0.32	-19.9822	3.7618	0.08607	0.1464:0.1296:0.5905:0.1335	.	107;107	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	H	107;7;7;107;107;7	ENSP00000419800:Q7H;ENSP00000377618:Q7H;ENSP00000325593:Q107H;ENSP00000325663:Q107H	ENSP00000325593:Q107H	Q	+	3	2	NFKBIZ	103053650	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	1.045000	0.30341	0.707000	0.31934	0.563000	0.77884	CAG		0.448	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1		NM_031419	
MYH15	22989	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	108117669	108117669	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr3:108117669C>G	ENST00000273353.3	-	36	5064	c.5008G>C	c.(5008-5010)Gat>Cat	p.D1670H		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1670						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D1670H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTGCTGTCATCCAGCTGCATT	0.498																																																	1	Substitution - Missense(1)	kidney(1)											118.0	121.0	120.0					3																	108117669		2095	4225	6320	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5008G>C	3.37:g.108117669C>G	ENSP00000273353:p.Asp1670His			Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318081	0.81469	.	.	ENSG00000144821	ENST00000273353	T	0.80214	-1.35	5.44	3.62	0.41486	Myosin tail (1);	.	.	.	.	D	0.90463	0.7013	M	0.90922	3.16	0.45662	D	0.998589	D	0.89917	1.0	D	0.79784	0.993	D	0.90603	0.4546	9	0.87932	D	0	.	10.7783	0.46363	0.1312:0.8:0.0:0.0688	.	1670	Q9Y2K3	MYH15_HUMAN	H	1670	ENSP00000273353:D1670H	ENSP00000273353:D1670H	D	-	1	0	MYH15	109600359	1.000000	0.71417	0.008000	0.14137	0.486000	0.33341	4.773000	0.62331	0.640000	0.30582	0.655000	0.94253	GAT		0.498	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1		XM_036988	
NLRP8	126205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56473595	56473595	+	Silent	SNP	A	A	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr19:56473595A>G	ENST00000291971.3	+	4	2276	c.2205A>G	c.(2203-2205)caA>caG	p.Q735Q	NLRP8_ENST00000590542.1_Silent_p.Q735Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	735					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.Q735Q(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCAAACTGCAAAAGCTACTGT	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	71.0	74.0					19																	56473595		2203	4300	6503	SO:0001819	synonymous_variant	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2205A>G	19.37:g.56473595A>G			Q7RTR4	Silent	SNP	ENST00000291971.3	37	CCDS12937.1																																																																																				0.483	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1		NM_176811	
OGFR	11054	broad.mit.edu;hgsc.bcm.edu	37	20	61444100	61444100	+	Missense_Mutation	SNP	G	G	T	rs6122312		TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr20:61444100G>T	ENST00000290291.6	+	7	1158	c.1133G>T	c.(1132-1134)aGc>aTc	p.S378I	OGFR_ENST00000370461.1_Missense_Mutation_p.S326I	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	378					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)	p.S378I(1)		endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GAGCCCTTAAGCCCCAAAGAG	0.677																																																	1	Substitution - Missense(1)	kidney(1)											13.0	16.0	15.0					20																	61444100		2186	4286	6472	SO:0001583	missense	11054			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1133G>T	20.37:g.61444100G>T	ENSP00000290291:p.Ser378Ile		O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Missense_Mutation	SNP	ENST00000290291.6	37	CCDS13504.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.789065	0.31685	.	.	ENSG00000060491	ENST00000290291;ENST00000370468;ENST00000357163;ENST00000370469;ENST00000370461	T;T;T	0.52295	1.56;0.67;1.06	4.98	1.84	0.25277	.	0.738645	0.13181	N	0.407502	T	0.36138	0.0956	L	0.54323	1.7	0.09310	N	1	P;P;P	0.35272	0.493;0.493;0.493	B;B;B	0.29785	0.107;0.107;0.107	T	0.28618	-1.0038	10	0.56958	D	0.05	-22.6341	4.5392	0.12049	0.3374:0.1589:0.5037:0.0	rs6122312	378;361;378	B3KMQ6;Q05BV5;Q9NZT2	.;.;OGFR_HUMAN	I	378;378;378;233;326	ENSP00000290291:S378I;ENSP00000359499:S378I;ENSP00000359491:S326I	ENSP00000290291:S378I	S	+	2	0	OGFR	60914545	0.015000	0.18098	0.791000	0.31998	0.081000	0.17604	0.269000	0.18589	0.438000	0.26450	0.555000	0.69702	AGC		0.677	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1			
PARP14	54625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	122447427	122447427	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr3:122447427A>C	ENST00000474629.2	+	17	5655	c.5389A>C	c.(5389-5391)Att>Ctt	p.I1797L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1797	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I1634L(1)|p.I1797L(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGAGTACCTTATTACGTTTAG	0.328																																																	2	Substitution - Missense(2)	kidney(2)											133.0	129.0	130.0					3																	122447427		1858	4101	5959	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.5389A>C	3.37:g.122447427A>C	ENSP00000418194:p.Ile1797Leu		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.025964	0.93518	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.12774	2.65	5.87	5.87	0.94306	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.080145	0.51477	D	0.000099	T	0.40247	0.1109	M	0.80508	2.5	0.80722	D	1	D	0.69078	0.997	D	0.85130	0.997	T	0.20438	-1.0275	10	0.44086	T	0.13	.	15.0878	0.72167	1.0:0.0:0.0:0.0	.	1797	Q460N5	PAR14_HUMAN	L	1797;1716;793	ENSP00000418194:I1797L	ENSP00000381224:I793L	I	+	1	0	PARP14	123930117	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.468000	0.80943	2.230000	0.72887	0.533000	0.62120	ATT		0.328	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2		NM_017554	
PDK1	5163	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	173435508	173435508	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr2:173435508A>G	ENST00000282077.3	+	8	1083	c.901A>G	c.(901-903)Att>Gtt	p.I301V	PDK1_ENST00000410055.1_Missense_Mutation_p.I301V|PDK1_ENST00000543905.1_Missense_Mutation_p.I225V|PDK1_ENST00000544863.1_Missense_Mutation_p.I146V|PDK1_ENST00000392571.2_Missense_Mutation_p.I321V			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	301	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cell proliferation (GO:0008283)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|hypoxia-inducible factor-1alpha signaling pathway (GO:0097411)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of glucose metabolic process (GO:0010906)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.I301V(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TTACCCCCCTATTCAAGTTCA	0.348									Autosomal Dominant Polycystic Kidney Disease																																								1	Substitution - Missense(1)	kidney(1)											126.0	117.0	120.0					2																	173435508		2203	4300	6503	SO:0001583	missense	5163	Familial Cancer Database	ADPKD	L42450	CCDS2250.1, CCDS63059.1	2q31.1	2008-05-23	2005-11-16		ENSG00000152256	ENSG00000152256			8809	protein-coding gene	gene with protein product		602524	"""pyruvate dehydrogenase kinase, isoenzyme 1"""			7499431	Standard	NR_103731		Approved		uc002uhs.3	Q15118	OTTHUMG00000132285	ENST00000282077.3:c.901A>G	2.37:g.173435508A>G	ENSP00000282077:p.Ile301Val		B2R6T1|B7Z937|D3DPD8|E9PD65|Q308M4	Missense_Mutation	SNP	ENST00000282077.3	37	CCDS2250.1	.	.	.	.	.	.	.	.	.	.	A	6.881	0.531953	0.13127	.	.	ENSG00000152256	ENST00000543905;ENST00000544863;ENST00000282077;ENST00000392571;ENST00000410055;ENST00000416991	T;T;T;T;T;T	0.64991	0.26;0.26;0.26;0.26;0.26;-0.13	5.78	0.71	0.18157	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.365986	0.34603	N	0.003821	T	0.42944	0.1225	N	0.20401	0.57	0.42190	D	0.991725	B;B	0.21147	0.009;0.052	B;B	0.30495	0.048;0.116	T	0.09465	-1.0673	10	0.14656	T	0.56	-9.4016	9.4171	0.38528	0.6601:0.0:0.3399:0.0	.	301;321	Q15118;E9PD65	PDK1_HUMAN;.	V	225;146;301;321;301;219	ENSP00000438567:I225V;ENSP00000437502:I146V;ENSP00000282077:I301V;ENSP00000376352:I321V;ENSP00000386985:I301V;ENSP00000399160:I219V	ENSP00000282077:I301V	I	+	1	0	PDK1	173143754	0.960000	0.32886	0.505000	0.27651	0.297000	0.27493	1.096000	0.30976	-0.093000	0.12396	0.482000	0.46254	ATT		0.348	PDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255380.3		NM_002610	
JADE1	79960	broad.mit.edu;ucsc.edu	37	4	129782923	129782923	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr4:129782923T>G	ENST00000226319.6	+	9	1326	c.1046T>G	c.(1045-1047)aTg>aGg	p.M349R	PHF17_ENST00000413543.2_Missense_Mutation_p.M349R|PHF17_ENST00000511647.1_Missense_Mutation_p.M349R|PHF17_ENST00000512960.1_Missense_Mutation_p.M349R|PHF17_ENST00000452328.2_Missense_Mutation_p.M337R	NM_199320.2	NP_955352.1												p.M349R(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGCCTGGAGATGAAGACCATC	0.498																																																	1	Substitution - Missense(1)	kidney(1)											105.0	112.0	110.0					4																	129782923		2203	4300	6503	SO:0001583	missense	79960																														ENST00000226319.6:c.1046T>G	4.37:g.129782923T>G	ENSP00000226319:p.Met349Arg			Missense_Mutation	SNP	ENST00000226319.6	37	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.074529	0.76415	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.01	5.01	0.66863	Zinc finger, PHD-type (1);	0.037424	0.85682	D	0.000000	T	0.57666	0.2069	H	0.97415	4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.996	T	0.74450	-0.3661	9	.	.	.	.	14.8958	0.70644	0.0:0.0:0.0:1.0	.	337;349;349	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	R	349;349;337;349;349;349	ENSP00000226319:M349R;ENSP00000423737:M349R;ENSP00000388015:M337R;ENSP00000425730:M349R;ENSP00000404211:M349R	.	M	+	2	0	PHF17	130002373	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.236000	0.78154	2.109000	0.64355	0.533000	0.62120	ATG		0.498	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			
PIP5K1A	8394	hgsc.bcm.edu;ucsc.edu	37	1	151209067	151209068	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr1:151209067_151209068delCT	ENST00000368888.4	+	9	1395_1396	c.973_974delCT	c.(973-975)ctcfs	p.L326fs	PIP5K1A_ENST00000464105.1_3'UTR|PIP5K1A_ENST00000409426.1_Frame_Shift_Del_p.L314fs|PIP5K1A_ENST00000368890.4_Frame_Shift_Del_p.L313fs|PIP5K1A_ENST00000441902.2_Frame_Shift_Del_p.L314fs|PIP5K1A_ENST00000414290.2_Frame_Shift_Del_p.L27fs	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	326	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGATTACAGCCTCTTGATGTCA	0.411																																					Pancreas(80;36 1443 2325 16095 21302)												0																																										SO:0001589	frameshift_variant	8394			U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.973_974delCT	1.37:g.151209069_151209070delCT	ENSP00000357883:p.Leu326fs		A8K4Q0|B4DIN0|Q99754|Q99756	Frame_Shift_Del	DEL	ENST00000368888.4	37	CCDS44219.1																																																																																				0.411	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2		NM_003557	
PLD5	200150	broad.mit.edu;hgsc.bcm.edu	37	1	242428747	242428747	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr1:242428747G>T	ENST00000536534.2	-	4	740	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K	PLD5_ENST00000442594.2_Missense_Mutation_p.Q75K|PLD5_ENST00000474177.1_5'Flank|PLD5_ENST00000427495.1_Missense_Mutation_p.Q105K			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	167						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.Q75K(1)|p.Q167K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AAAAGACGTTGACCCTGGAAA	0.323																																																	2	Substitution - Missense(2)	kidney(2)											40.0	38.0	39.0					1																	242428747		2201	4300	6501	SO:0001583	missense	200150			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.499C>A	1.37:g.242428747G>T	ENSP00000440896:p.Gln167Lys		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868527	0.51588	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864	T;T;T;T	0.42513	2.6;2.6;2.6;0.97	5.55	5.55	0.83447	.	0.196319	0.46145	D	0.000306	T	0.32194	0.0821	L	0.29908	0.895	0.44754	D	0.997754	B;B;B	0.16802	0.019;0.011;0.004	B;B;B	0.14578	0.011;0.005;0.004	T	0.08027	-1.0742	10	0.15952	T	0.53	-8.5334	16.5937	0.84789	0.0:0.0:1.0:0.0	.	75;167;105	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	K	105;75;167;105	ENSP00000401285:Q105K;ENSP00000414188:Q75K;ENSP00000440896:Q167K;ENSP00000438191:Q105K	ENSP00000401285:Q105K	Q	-	1	0	PLD5	240495370	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.292000	0.59031	2.768000	0.95171	0.655000	0.94253	CAA		0.323	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2		NM_152666	
PRRC2A	7916	hgsc.bcm.edu	37	6	31593814	31593815	+	Frame_Shift_Ins	INS	-	-	G	rs376264291|rs147717718		TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr6:31593814_31593815insG	ENST00000376033.2	+	9	1091_1092	c.857_858insG	c.(856-861)gcgggcfs	p.AG286fs	PRRC2A_ENST00000469577.1_3'UTR|SNORA38_ENST00000363946.1_RNA|PRRC2A_ENST00000376007.4_Frame_Shift_Ins_p.AG286fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	286	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCCGTGTGGCGGGCCCCCGAG	0.495																																																	0																																										SO:0001589	frameshift_variant	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.860dupG	6.37:g.31593817_31593817dupG	ENSP00000365201:p.Ala286fs		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Frame_Shift_Ins	INS	ENST00000376033.2	37	CCDS4708.1																																																																																				0.495	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1		NM_080686	
RAD51AP2	729475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	17698328	17698328	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr2:17698328A>G	ENST00000399080.2	-	1	1378	c.1355T>C	c.(1354-1356)aTc>aCc	p.I452T		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	452								p.I452T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATATGCATTGATGACTTTTGC	0.308																																																	1	Substitution - Missense(1)	kidney(1)											61.0	55.0	57.0					2																	17698328		1825	4077	5902	SO:0001583	missense	729475			AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.1355T>C	2.37:g.17698328A>G	ENSP00000382030:p.Ile452Thr			Missense_Mutation	SNP	ENST00000399080.2	37	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	A	8.983	0.975730	0.18736	.	.	ENSG00000214842	ENST00000399080	T	0.25749	1.78	4.74	0.887	0.19200	.	.	.	.	.	T	0.11750	0.0286	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25433	-1.0132	9	0.48119	T	0.1	0.0014	5.3296	0.15924	0.5314:0.1463:0.3222:0.0	.	452	Q09MP3	R51A2_HUMAN	T	452	ENSP00000382030:I452T	ENSP00000382030:I452T	I	-	2	0	RAD51AP2	17561809	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.300000	0.08243	0.048000	0.15891	0.460000	0.39030	ATC		0.308	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3		NM_001099218	
RPS6KC1	26750	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	213302912	213302912	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr1:213302912T>C	ENST00000366960.3	+	6	665	c.515T>C	c.(514-516)gTg>gCg	p.V172A	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.V160A|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000543470.1_5'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	172					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.V172A(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACTGTTGATGTGGATTCTCTT	0.378																																																	1	Substitution - Missense(1)	kidney(1)											129.0	131.0	130.0					1																	213302912		2203	4300	6503	SO:0001583	missense	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.515T>C	1.37:g.213302912T>C	ENSP00000355927:p.Val172Ala		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	T	2.077	-0.411555	0.04799	.	.	ENSG00000136643	ENST00000366960;ENST00000366959	T;T	0.30981	1.51;1.51	5.53	2.87	0.33458	.	0.351759	0.30302	N	0.009926	T	0.12178	0.0296	N	0.08118	0	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.003	T	0.10268	-1.0637	10	0.17369	T	0.5	-42.3377	4.6905	0.12778	0.0:0.2016:0.1558:0.6426	.	172;160	Q96S38;B1APS8	KS6C1_HUMAN;.	A	172;160	ENSP00000355927:V172A;ENSP00000355926:V160A	ENSP00000355926:V160A	V	+	2	0	RPS6KC1	211369535	0.994000	0.37717	1.000000	0.80357	0.996000	0.88848	0.252000	0.18278	0.735000	0.32537	0.477000	0.44152	GTG		0.378	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3		NM_012424	
RTN3	10313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	63487838	63487838	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr11:63487838G>A	ENST00000377819.5	+	3	2018	c.1864G>A	c.(1864-1866)Gag>Aag	p.E622K	RTN3_ENST00000339997.4_Missense_Mutation_p.E603K|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.E510K|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	622					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.E603K(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGTTTTTAATGAGACAGAATT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											71.0	77.0	75.0					11																	63487838		2201	4298	6499	SO:0001583	missense	10313			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1864G>A	11.37:g.63487838G>A	ENSP00000367050:p.Glu622Lys		B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396028	0.42512	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.25912	1.77;1.77;1.79	5.42	2.54	0.30619	.	0.552403	0.13939	N	0.352313	T	0.17109	0.0411	L	0.29908	0.895	0.09310	N	0.999996	P;P;P	0.42296	0.775;0.666;0.775	B;B;B	0.39660	0.306;0.162;0.306	T	0.10019	-1.0648	10	0.27785	T	0.31	0.4031	7.5293	0.27674	0.2698:0.0:0.7302:0.0	.	510;622;603	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	K	622;603;510	ENSP00000367050:E622K;ENSP00000344106:E603K;ENSP00000442733:E510K	ENSP00000344106:E603K	E	+	1	0	RTN3	63244414	0.810000	0.29049	0.012000	0.15200	0.666000	0.39218	1.913000	0.39956	0.360000	0.24265	0.561000	0.74099	GAG		0.383	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1		NM_006054	
SAMHD1	25939	hgsc.bcm.edu;ucsc.edu	37	20	35563478	35563478	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr20:35563478delA	ENST00000262878.4	-	4	662	c.463delT	c.(463-465)tatfs	p.Y155fs	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	155					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GGAAAAACATAGTAACCACCT	0.448																																																	0													129.0	119.0	123.0					20																	35563478		2203	4300	6503	SO:0001589	frameshift_variant	25939			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.463delT	20.37:g.35563478delA	ENSP00000262878:p.Tyr155fs		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Frame_Shift_Del	DEL	ENST00000262878.4	37	CCDS13288.1																																																																																				0.448	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2		NM_015474	
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47143014	47143014	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr3:47143014A>G	ENST00000409792.3	-	8	4991	c.4949T>C	c.(4948-4950)tTt>tCt	p.F1650S		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1650	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.F1147S(1)|p.F1650S(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GGTGGTAAAAAACCCAACCCT	0.398			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Missense(2)	kidney(2)											154.0	153.0	154.0					3																	47143014		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4949T>C	3.37:g.47143014A>G	ENSP00000386759:p.Phe1650Ser		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	29.3	4.998578	0.93227	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	D	0.83755	-1.76	5.94	5.94	0.96194	SET domain (3);	0.000000	0.56097	D	0.000038	D	0.94745	0.8304	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96621	0.9459	10	0.87932	D	0	.	16.4075	0.83691	1.0:0.0:0.0:0.0	.	1650;1650	F2Z317;Q9BYW2	.;SETD2_HUMAN	S	1650	ENSP00000386759:F1650S	ENSP00000386759:F1650S	F	-	2	0	SETD2	47118018	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.238000	0.95380	2.275000	0.75901	0.528000	0.53228	TTT		0.398	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SI	6476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	164767593	164767593	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr3:164767593G>A	ENST00000264382.3	-	14	1645	c.1583C>T	c.(1582-1584)cCa>cTa	p.P528L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	528	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.P528L(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGTAAACGGTGGATAATTCAA	0.279										HNSCC(35;0.089)																																							1	Substitution - Missense(1)	kidney(1)											91.0	101.0	97.0					3																	164767593		2203	4289	6492	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1583C>T	3.37:g.164767593G>A	ENSP00000264382:p.Pro528Leu		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806826	0.70682	.	.	ENSG00000090402	ENST00000264382	D	0.91996	-2.95	5.58	5.58	0.84498	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97458	0.9168	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98387	1.0561	10	0.87932	D	0	.	18.5615	0.91101	0.0:0.0:1.0:0.0	.	528	P14410	SUIS_HUMAN	L	528	ENSP00000264382:P528L	ENSP00000264382:P528L	P	-	2	0	SI	166250287	1.000000	0.71417	1.000000	0.80357	0.406000	0.30931	9.114000	0.94329	2.622000	0.88805	0.585000	0.79938	CCA		0.279	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1		NM_001041	
SLITRK6	84189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	86368512	86368512	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr13:86368512C>T	ENST00000400286.2	-	2	2730	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	711					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.G711E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGCATCACTTCCTTCTTTCTC	0.413																																																	1	Substitution - Missense(1)	kidney(1)											279.0	271.0	274.0					13																	86368512		1900	4115	6015	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2132G>A	13.37:g.86368512C>T	ENSP00000383143:p.Gly711Glu		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	C	5.786	0.329427	0.10956	.	.	ENSG00000184564	ENST00000400286	T	0.55760	0.5	5.84	5.0	0.66597	.	0.640752	0.14004	U	0.347883	T	0.27027	0.0662	N	0.08118	0	0.34482	D	0.703955	B	0.09022	0.002	B	0.06405	0.002	T	0.28202	-1.0051	10	0.08179	T	0.78	-11.6167	6.5901	0.22642	0.0:0.6958:0.1484:0.1558	.	711	Q9H5Y7	SLIK6_HUMAN	E	711	ENSP00000383143:G711E	ENSP00000383143:G711E	G	-	2	0	SLITRK6	85266513	0.000000	0.05858	0.948000	0.38648	0.655000	0.38815	0.333000	0.19768	1.475000	0.48197	0.655000	0.94253	GGA		0.413	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2		NM_032229	
SMARCB1	6598	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24175874	24175874	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr22:24175874C>T	ENST00000263121.7	+	8	1298	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	SMARCB1_ENST00000407422.3_Nonsense_Mutation_p.Q359*|SMARCB1_ENST00000344921.6_Nonsense_Mutation_p.Q377*|SMARCB1_ENST00000407082.3_Nonsense_Mutation_p.Q322*|DERL3_ENST00000464023.1_5'Flank	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	368					ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(2)|p.Q368*(2)|p.Q377*(1)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GATCCGCGACCAGGACAGGAA	0.622			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid																																	yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""		M	6	Substitution - Nonsense(3)|Unknown(2)|Deletion - In frame(1)	central_nervous_system(3)|kidney(2)|haematopoietic_and_lymphoid_tissue(1)											122.0	105.0	111.0					22																	24175874		2203	4300	6503	SO:0001587	stop_gained	6598			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.1102C>T	22.37:g.24175874C>T	ENSP00000263121:p.Gln368*		O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Nonsense_Mutation	SNP	ENST00000263121.7	37	CCDS13817.1	.	.	.	.	.	.	.	.	.	.	C	38	6.783836	0.97837	.	.	ENSG00000099956	ENST00000344921;ENST00000263121;ENST00000407422;ENST00000407082	.	.	.	4.76	4.76	0.60689	.	0.108664	0.64402	D	0.000004	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-31.4772	17.2148	0.86940	0.0:1.0:0.0:0.0	.	.	.	.	X	377;368;359;322	.	ENSP00000263121:Q368X	Q	+	1	0	SMARCB1	22505874	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.569000	0.82380	2.387000	0.81309	0.543000	0.68304	CAG		0.622	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1		NM_003073	
SPATS2L	26010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	201304031	201304031	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr2:201304031A>G	ENST00000358677.5	+	7	879	c.632A>G	c.(631-633)gAt>gGt	p.D211G	SPATS2L_ENST00000409140.3_Missense_Mutation_p.D211G|SPATS2L_ENST00000409718.1_Missense_Mutation_p.D211G|SPATS2L_ENST00000451764.2_Missense_Mutation_p.D211G|SPATS2L_ENST00000409151.1_Missense_Mutation_p.D219G|SPATS2L_ENST00000409755.3_Missense_Mutation_p.D241G|SPATS2L_ENST00000409988.3_Missense_Mutation_p.D211G|SPATS2L_ENST00000360760.5_Intron|SPATS2L_ENST00000409385.1_Missense_Mutation_p.D151G	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	211						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)	p.D211G(1)|p.D241G(1)		endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						ATAAAGCCAGATGAGTTGGCA	0.413																																																	2	Substitution - Missense(2)	kidney(2)											77.0	72.0	74.0					2																	201304031		1867	4105	5972	SO:0001583	missense	26010			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.632A>G	2.37:g.201304031A>G	ENSP00000351503:p.Asp211Gly		A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	37	CCDS46483.1	.	.	.	.	.	.	.	.	.	.	A	18.04	3.534489	0.64972	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000409140;ENST00000409755;ENST00000409151	.	.	.	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000007	T	0.66228	0.2768	L	0.40543	1.245	0.47994	D	0.999567	D;D	0.76494	0.999;0.989	D;P	0.85130	0.997;0.87	T	0.61549	-0.7040	9	0.23302	T	0.38	-23.9527	14.0429	0.64687	1.0:0.0:0.0:0.0	.	241;211	B4DT67;Q9NUQ6	.;SPS2L_HUMAN	G	211;211;211;151;211;211;241;219	.	ENSP00000351503:D211G	D	+	2	0	SPATS2L	201012276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.412000	0.66392	2.244000	0.73946	0.528000	0.53228	GAT		0.413	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3		NM_015535	
SNED1	25992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	241989270	241989270	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr2:241989270A>G	ENST00000310397.8	+	12	1655	c.1655A>G	c.(1654-1656)aAc>aGc	p.N552S	SNED1_ENST00000401884.1_Missense_Mutation_p.N552S|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Missense_Mutation_p.N552S|SNED1_ENST00000405547.3_Missense_Mutation_p.N552S|SNED1_ENST00000469006.1_3'UTR	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	552	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.N552S(1)		NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCCTGCTTCAACGGAGGCTCC	0.687																																																	1	Substitution - Missense(1)	kidney(1)											59.0	66.0	64.0					2																	241989270		2152	4237	6389	SO:0001583	missense	25992			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1655A>G	2.37:g.241989270A>G	ENSP00000308893:p.Asn552Ser		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.5|27.5	4.837220|4.837220	0.91117|0.91117	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631|ENST00000431690	D;D;D;D|.	0.94828|.	-3.53;-3.53;-3.53;-3.53|.	5.2|5.2	5.2|5.2	0.72013|0.72013	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.64402|.	D|.	0.000017|.	D|D	0.84942|0.84942	0.5584|0.5584	M|M	0.92923|0.92923	3.36|3.36	0.53688|0.53688	D|D	0.999979|0.999979	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.88967|0.88967	0.3398|0.3398	10|5	0.66056|.	D|.	0.02|.	.|.	15.0808|15.0808	0.72113|0.72113	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	552|.	Q8TER0|.	SNED1_HUMAN|.	S|A	552|210	ENSP00000384871:N552S;ENSP00000386007:N552S;ENSP00000308893:N552S;ENSP00000342992:N552S|.	ENSP00000308893:N552S|.	N|T	+|+	2|1	0|0	SNED1|SNED1	241637943|241637943	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	7.985000|7.985000	0.88162|0.88162	1.959000|1.959000	0.56917|0.56917	0.533000|0.533000	0.62120|0.62120	AAC|ACG		0.687	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2		XM_059482	
TAAR5	9038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	132910010	132910010	+	Silent	SNP	C	C	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr6:132910010C>T	ENST00000258034.2	-	1	867	c.816G>A	c.(814-816)acG>acA	p.T272T		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	272			T -> M (in dbSNP:rs34746740).		G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.T272T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TGTCGACCATCGTGTCTATGG	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											93.0	96.0	95.0					6																	132910010		2203	4300	6503	SO:0001819	synonymous_variant	9038			AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.816G>A	6.37:g.132910010C>T			D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Silent	SNP	ENST00000258034.2	37	CCDS5156.1																																																																																				0.527	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1		NM_003967	
TBL1XR1	79718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	176767807	176767807	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr3:176767807T>C	ENST00000430069.1	-	7	939	c.680A>G	c.(679-681)gAt>gGt	p.D227G	TBL1XR1-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Missense_Mutation_p.D227G			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	227					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.D227G(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			AGATGTGACATCCTTGTTGCT	0.413																																																	1	Substitution - Missense(1)	kidney(1)											162.0	149.0	153.0					3																	176767807		1981	4144	6125	SO:0001583	missense	79718			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.680A>G	3.37:g.176767807T>C	ENSP00000405574:p.Asp227Gly		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.876757	0.91664	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.59083	0.29;0.29	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	N	0.04805	-0.155	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.63954	-0.6520	10	0.42905	T	0.14	-9.5326	14.6231	0.68599	0.0:0.0:0.0:1.0	.	227	Q9BZK7	TBL1R_HUMAN	G	227;227;89	ENSP00000405574:D227G;ENSP00000413251:D227G	ENSP00000405574:D227G	D	-	2	0	TBL1XR1	178250501	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	8.031000	0.88826	2.100000	0.63781	0.533000	0.62120	GAT		0.413	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3		NM_024665	
TEX14	56155	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56638955	56638955	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr17:56638955A>C	ENST00000240361.8	-	30	4306	c.4221T>G	c.(4219-4221)gaT>gaG	p.D1407E	TEX14_ENST00000349033.5_Missense_Mutation_p.D1361E|TEX14_ENST00000584699.1_5'UTR|TEX14_ENST00000389934.3_Missense_Mutation_p.D1401E			Q8IWB6	TEX14_HUMAN	testis expressed 14	1407					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.D1407E(1)|p.D1361E(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGGTCCTCATCCAGAGTAG	0.488																																																	2	Substitution - Missense(2)	kidney(2)											127.0	122.0	123.0					17																	56638955		2203	4300	6503	SO:0001583	missense	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4221T>G	17.37:g.56638955A>C	ENSP00000240361:p.Asp1407Glu		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.686215	0.68157	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.28666	1.6;1.6;1.6	5.09	2.89	0.33648	.	0.000000	0.64402	D	0.000015	T	0.46795	0.1411	M	0.63843	1.955	0.26451	N	0.975619	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.997;0.998	T	0.30090	-0.9990	10	0.87932	D	0	-12.3663	6.4301	0.21792	0.8092:0.0:0.1908:0.0	.	1407;1361;1401	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	E	1407;1401;1361	ENSP00000240361:D1407E;ENSP00000374584:D1401E;ENSP00000268910:D1361E	ENSP00000240361:D1407E	D	-	3	2	TEX14	53993954	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.978000	0.40598	0.428000	0.26173	0.533000	0.62120	GAT		0.488	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			
TGM7	116179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43571460	43571460	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr15:43571460A>C	ENST00000452443.2	-	11	1698	c.1694T>G	c.(1693-1695)cTc>cGc	p.L565R		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	565					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.L565R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GGGCAGGAGGAGCGGCCACTG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											67.0	59.0	61.0					15																	43571460		2202	4299	6501	SO:0001583	missense	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1694T>G	15.37:g.43571460A>C	ENSP00000389466:p.Leu565Arg			Missense_Mutation	SNP	ENST00000452443.2	37	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	A	18.54	3.646654	0.67358	.	.	ENSG00000159495	ENST00000452443	T	0.35789	1.29	5.42	5.42	0.78866	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.415847	0.24917	N	0.034580	T	0.46889	0.1416	L	0.60455	1.87	0.09310	N	1	D	0.61080	0.989	P	0.53450	0.726	T	0.45818	-0.9235	10	0.62326	D	0.03	-13.5813	11.888	0.52613	1.0:0.0:0.0:0.0	.	565	Q96PF1	TGM7_HUMAN	R	565	ENSP00000389466:L565R	ENSP00000389466:L565R	L	-	2	0	TGM7	41358752	0.949000	0.32298	0.887000	0.34795	0.911000	0.54048	5.387000	0.66243	2.058000	0.61347	0.533000	0.62120	CTC		0.517	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1		NM_052955	
TSLP	85480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	110407687	110407687	+	Silent	SNP	C	C	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr5:110407687C>T	ENST00000344895.3	+	1	298	c.99C>T	c.(97-99)aaC>aaT	p.N33N	TSLP_ENST00000379706.4_5'Flank|TSLP_ENST00000420978.2_Silent_p.N33N	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	33						extracellular space (GO:0005615)		p.N33N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACTTCACTAACTGTGACTTTG	0.353																																																	1	Substitution - coding silent(1)	kidney(1)											152.0	144.0	146.0					5																	110407687		2202	4300	6502	SO:0001819	synonymous_variant	85480			BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.99C>T	5.37:g.110407687C>T			Q8IW99	Silent	SNP	ENST00000344895.3	37	CCDS4101.1																																																																																				0.353	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250717.1		NM_033035	
UHRF1BP1	54887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	34826414	34826414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr6:34826414C>T	ENST00000192788.5	+	14	2452	c.2281C>T	c.(2281-2283)Cag>Tag	p.Q761*	UHRF1BP1_ENST00000452449.2_Nonsense_Mutation_p.Q761*	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	761							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.Q761*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AAGTCCTGTCCAGTCTGAGGC	0.537																																																	1	Substitution - Nonsense(1)	kidney(1)											69.0	67.0	67.0					6																	34826414		1917	4121	6038	SO:0001587	stop_gained	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2281C>T	6.37:g.34826414C>T	ENSP00000192788:p.Gln761*		Q9NXE0	Nonsense_Mutation	SNP	ENST00000192788.5	37	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	37	5.996531	0.97184	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	.	.	.	5.55	5.55	0.83447	.	0.845955	0.10748	N	0.638714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0287	9.3661	0.38226	0.2266:0.6378:0.1356:0.0	.	.	.	.	X	761	.	ENSP00000192788:Q761X	Q	+	1	0	UHRF1BP1	34934392	0.141000	0.22595	0.500000	0.27589	0.748000	0.42578	1.480000	0.35464	2.624000	0.88883	0.585000	0.79938	CAG		0.537	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1		NM_017754	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188204	10188204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr3:10188204delT	ENST00000256474.2	+	2	1187	c.347delT	c.(346-348)cttfs	p.L116fs	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	116	Involved in binding to CCT complex.		L -> V (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.?(2)|p.W117fs*14(2)|p.H115fs*15(1)|p.W117fs*42(1)|p.H115fs*41(1)|p.H115fs*42(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)		ATAGGTCACCTTTGGCTCTTC	0.527		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"""	8	Deletion - Frameshift(6)|Unknown(2)	kidney(8)											173.0	161.0	165.0					3																	10188204		2203	4300	6503	SO:0001589	frameshift_variant	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.347delT	3.37:g.10188204delT	ENSP00000256474:p.Leu116fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.527	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VPS39	23339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42479524	42479524	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr15:42479524G>A	ENST00000348544.4	-	8	511	c.512C>T	c.(511-513)gCg>gTg	p.A171V	VPS39_ENST00000318006.5_Missense_Mutation_p.A160V			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	171	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)	p.A160V(1)		breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTCACACCACGCCATGGACTT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											81.0	80.0	80.0					15																	42479524		2203	4299	6502	SO:0001583	missense	23339			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.512C>T	15.37:g.42479524G>A	ENSP00000335193:p.Ala171Val		O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	ENST00000348544.4	37	CCDS10083.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419551	0.83559	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.20738	2.05;2.05	5.95	5.95	0.96441	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.24547	0.0595	L	0.54323	1.7	0.80722	D	1	P;P	0.43024	0.798;0.76	B;B	0.37888	0.26;0.169	T	0.01312	-1.1388	10	0.28530	T	0.3	-12.3934	20.3931	0.98965	0.0:0.0:1.0:0.0	.	171;160	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	V	160;171	ENSP00000326534:A160V;ENSP00000335193:A171V	ENSP00000326534:A160V	A	-	2	0	VPS39	40266816	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.835000	0.99442	2.824000	0.97209	0.655000	0.94253	GCG		0.353	VPS39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000420472.1		NM_015289	
ZFHX4	79776	broad.mit.edu;hgsc.bcm.edu	37	8	77616514	77616514	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr8:77616514T>G	ENST00000521891.2	+	2	639	c.191T>G	c.(190-192)tTc>tGc	p.F64C	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.F64C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.F64C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.F64C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	64					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.F64C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGCTGGGTTTCAGCGTTGAG	0.493										HNSCC(33;0.089)																																							1	Substitution - Missense(1)	kidney(1)											95.0	102.0	100.0					8																	77616514		2081	4222	6303	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.191T>G	8.37:g.77616514T>G	ENSP00000430497:p.Phe64Cys		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	12.67	2.009081	0.35415	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.49432	0.78;0.84;0.8;1.51;0.92;1.51;0.93;0.8	5.53	5.53	0.82687	.	0.000000	0.47093	U	0.000260	T	0.43122	0.1233	N	0.14661	0.345	0.41000	D	0.984929	P;D;D;P	0.54964	0.947;0.969;0.969;0.924	P;P;P;P	0.50970	0.453;0.655;0.655;0.562	T	0.49072	-0.8977	10	0.54805	T	0.06	.	15.827	0.78718	0.0:0.0:0.0:1.0	.	64;64;64;64	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	C	64	ENSP00000430497:F64C;ENSP00000399605:F64C;ENSP00000050961:F64C;ENSP00000428525:F64C;ENSP00000429495:F64C;ENSP00000427775:F64C;ENSP00000427739:F64C;ENSP00000430848:F64C	ENSP00000050961:F64C	F	+	2	0	ZFHX4	77779069	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.101000	0.71479	2.324000	0.78689	0.533000	0.62120	TTC		0.493	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721	
ZFP37	7539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	115806234	115806234	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr9:115806234C>G	ENST00000374227.3	-	4	691	c.664G>C	c.(664-666)Ggc>Cgc	p.G222R	ZFP37_ENST00000553380.1_Missense_Mutation_p.G237R|ZFP37_ENST00000555206.1_Missense_Mutation_p.G223R	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G222R(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGCTTTTTGCCTTTCCTTGTA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											242.0	238.0	239.0					9																	115806234		2203	4299	6502	SO:0001583	missense	7539			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.664G>C	9.37:g.115806234C>G	ENSP00000363344:p.Gly222Arg		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	0.484	-0.878725	0.02550	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.05199	3.52;3.48;3.56	4.43	-2.53	0.06326	.	2.083720	0.02364	N	0.077210	T	0.02418	0.0074	N	0.01668	-0.77	0.09310	N	1	B;B;B	0.30973	0.302;0.302;0.201	B;B;B	0.24701	0.055;0.055;0.025	T	0.34279	-0.9835	10	0.44086	T	0.13	1.7353	5.4266	0.16429	0.0:0.3027:0.1564:0.5409	.	223;237;222	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	R	222;223;237	ENSP00000363344:G222R;ENSP00000451310:G223R;ENSP00000452552:G237R	ENSP00000363344:G222R	G	-	1	0	ZFP37	114846055	0.000000	0.05858	0.017000	0.16124	0.009000	0.06853	-1.763000	0.01802	-0.479000	0.06813	-0.345000	0.07892	GGC		0.353	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1		NM_003408	
ZFPM2	23414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	106801068	106801068	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr8:106801068T>G	ENST00000407775.2	+	6	905	c.655T>G	c.(655-657)Tac>Gac	p.Y219D	RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Y87D|ZFPM2_ENST00000378472.4_5'UTR|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.Y87D|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	219					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Y219D(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAAGGGATGTACCCTGCACG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											111.0	108.0	109.0					8																	106801068		2011	4196	6207	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.655T>G	8.37:g.106801068T>G	ENSP00000384179:p.Tyr219Asp		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196469	0.79015	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361	T;T;T	0.20881	2.04;2.53;2.53	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.38348	0.1037	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.12116	-1.0560	10	0.66056	D	0.02	.	16.3305	0.83010	0.0:0.0:0.0:1.0	.	219	Q8WW38	FOG2_HUMAN	D	219;87;87	ENSP00000384179:Y219D;ENSP00000430757:Y87D;ENSP00000428720:Y87D	ENSP00000384179:Y219D	Y	+	1	0	ZFPM2	106870244	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.655000	0.83696	2.317000	0.78254	0.459000	0.35465	TAC		0.498	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			
ZNF408	79797	hgsc.bcm.edu;ucsc.edu	37	11	46726914	46726914	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr11:46726914delT	ENST00000311764.2	+	5	1894	c.1664delT	c.(1663-1665)gtgfs	p.V555fs		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	555					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGTGCCCGGTGTGTGGCAAG	0.667																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)												0													30.0	26.0	27.0					11																	46726914		2200	4294	6494	SO:0001589	frameshift_variant	79797			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.1664delT	11.37:g.46726914delT	ENSP00000309606:p.Val555fs			Frame_Shift_Del	DEL	ENST00000311764.2	37	CCDS7923.1																																																																																				0.667	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390485.2		NM_024741	
ZNF646	9726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	31094339	31094339	+	3'UTR	SNP	C	C	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr16:31094339C>G	ENST00000394979.2	+	0	7117				ZNF646_ENST00000300850.5_Missense_Mutation_p.P1809A			O15015	ZN646_HUMAN	zinc finger protein 646						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P1809A(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCCATTGCCCCCTCCACCCAC	0.632																																																	1	Substitution - Missense(1)	kidney(1)											42.0	37.0	39.0					16																	31094339		2197	4300	6497	SO:0001624	3_prime_UTR_variant	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.*1204C>G	16.37:g.31094339C>G			Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	C	11.73	1.726414	0.30593	.	.	ENSG00000167395	ENST00000300850	T	0.09163	3.01	5.21	4.25	0.50352	.	.	.	.	.	T	0.10809	0.0264	.	.	.	0.80722	D	1	B	0.33612	0.419	B	0.38500	0.275	T	0.12243	-1.0555	8	0.34782	T	0.22	-1.3055	10.0719	0.42339	0.0:0.9042:0.0:0.0958	.	1809	O15015-2	.	A	1809	ENSP00000300850:P1809A	ENSP00000300850:P1809A	P	+	1	0	ZNF646	31001840	0.002000	0.14202	0.831000	0.32960	0.878000	0.50629	0.398000	0.20899	2.434000	0.82447	0.655000	0.94253	CCT		0.632	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2		NM_014699	
ZNF804B	219578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	88963296	88963296	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr7:88963296G>A	ENST00000333190.4	+	4	1609	c.1000G>A	c.(1000-1002)Gta>Ata	p.V334I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	334							metal ion binding (GO:0046872)	p.V334I(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCTTTCAGATGTAGATTTTAC	0.333										HNSCC(36;0.09)																																							1	Substitution - Missense(1)	kidney(1)											34.0	36.0	35.0					7																	88963296		2202	4295	6497	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1000G>A	7.37:g.88963296G>A	ENSP00000329638:p.Val334Ile		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	5.014	0.188194	0.09547	.	.	ENSG00000182348	ENST00000333190	T	0.04758	3.56	5.14	0.353	0.16058	.	0.753550	0.11932	N	0.515591	T	0.03739	0.0106	L	0.38531	1.155	0.09310	N	1	B	0.18013	0.025	B	0.15870	0.014	T	0.46275	-0.9203	10	0.20519	T	0.43	3.1224	5.0793	0.14647	0.4101:0.0:0.4227:0.1673	.	334	A4D1E1	Z804B_HUMAN	I	334	ENSP00000329638:V334I	ENSP00000329638:V334I	V	+	1	0	ZNF804B	88801232	0.991000	0.36638	0.070000	0.20053	0.994000	0.84299	0.475000	0.22164	0.167000	0.19631	0.655000	0.94253	GTA		0.333	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2		NM_181646	
ZNF805	390980	broad.mit.edu	37	19	57764639	57764639	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3455-01A-01D-0966-08	TCGA-AK-3455-10A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fbeeda4-a6c4-45a4-a963-dc6ca3f7e0ba	0294e2fd-2f19-4fea-9001-b3fc49f9022f	g.chr19:57764639C>G	ENST00000414468.2	+	4	452	c.452C>G	c.(451-453)cCt>cGt	p.P151R	ZNF805_ENST00000354309.4_Missense_Mutation_p.P18R|ZNF805_ENST00000535550.1_Missense_Mutation_p.P18R	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P151R(1)		breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						GAGAAGCTTCCTGGAAAAATG	0.488																																																	1	Substitution - Missense(1)	kidney(1)											160.0	142.0	147.0					19																	57764639		692	1591	2283	SO:0001583	missense	390980			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.452C>G	19.37:g.57764639C>G	ENSP00000412999:p.Pro151Arg		B4DNM5	Missense_Mutation	SNP	ENST00000414468.2	37	CCDS46207.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.525386	0.27299	.	.	ENSG00000204524	ENST00000535550;ENST00000414468;ENST00000354309	T;T;T	0.24350	1.86;1.86;1.86	4.06	0.658	0.17855	.	.	.	.	.	T	0.19287	0.0463	L	0.57536	1.79	0.09310	N	1	P	0.48230	0.907	B	0.36885	0.235	T	0.19257	-1.0311	9	0.66056	D	0.02	.	4.0754	0.09901	0.0:0.5871:0.1955:0.2174	.	151	Q5CZA5	ZN805_HUMAN	R	18;151;18	ENSP00000440067:P18R;ENSP00000412999:P151R;ENSP00000365414:P18R	ENSP00000365414:P18R	P	+	2	0	ZNF805	62456451	0.000000	0.05858	0.004000	0.12327	0.016000	0.09150	-0.086000	0.11233	0.246000	0.21394	0.591000	0.81541	CCT		0.488	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465722.1		NM_001023563	
