#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABT1	29777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	26598223	26598223	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr6:26598223G>T	ENST00000274849.1	+	2	354	c.323G>T	c.(322-324)gGa>gTa	p.G108V		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	108	RRM.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.G108V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						TACACCGAGGGATGGGTGGAG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											61.0	56.0	57.0					6																	26598223		2203	4300	6503	SO:0001583	missense	29777			AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.323G>T	6.37:g.26598223G>T	ENSP00000274849:p.Gly108Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000274849.1	37	CCDS4616.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224549	0.95139	.	.	ENSG00000146109	ENST00000274849	T	0.54479	0.57	5.23	5.23	0.72850	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.78349	0.4269	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84699	0.0727	10	0.87932	D	0	-1.7746	16.6701	0.85263	0.0:0.0:1.0:0.0	.	108	Q9ULW3	ABT1_HUMAN	V	108	ENSP00000274849:G108V	ENSP00000274849:G108V	G	+	2	0	ABT1	26706202	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.296000	0.89940	2.629000	0.89072	0.563000	0.77884	GGA		0.602	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043698.1			
ALK	238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	29455209	29455209	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr2:29455209A>G	ENST00000389048.3	-	15	3499	c.2593T>C	c.(2593-2595)Tcc>Ccc	p.S865P	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	865	Gly-rich.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S865P(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	AGAACCGAGGAGTTATTCTCC	0.627			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	1	Substitution - Missense(1)	kidney(1)											109.0	99.0	103.0					2																	29455209		2203	4300	6503	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.2593T>C	2.37:g.29455209A>G	ENSP00000373700:p.Ser865Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.060974	0.55432	.	.	ENSG00000171094	ENST00000389048	T	0.77750	-1.12	5.41	5.41	0.78517	.	0.000000	0.47852	D	0.000210	T	0.69187	0.3083	L	0.41236	1.265	0.80722	D	1	B	0.15719	0.014	B	0.25140	0.058	T	0.63479	-0.6628	9	.	.	.	.	11.2407	0.48968	0.8631:0.0:0.0:0.1369	.	865	Q9UM73	ALK_HUMAN	P	865	ENSP00000373700:S865P	.	S	-	1	0	ALK	29308713	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.359000	0.52292	2.050000	0.60909	0.454000	0.30748	TCC		0.627	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1		NM_004304	
ATN1	1822	hgsc.bcm.edu	37	12	7045918	7045918	+	Missense_Mutation	SNP	G	G	T	rs200695600		TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr12:7045918G>T	ENST00000356654.4	+	5	1725	c.1488G>T	c.(1486-1488)caG>caT	p.Q496H	ATN1_ENST00000396684.2_Missense_Mutation_p.Q496H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	496	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcagcagcagcagcagcagc	0.637																																																	0													40.0	51.0	48.0					12																	7045918		2191	4289	6480	SO:0001583	missense	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1488G>T	12.37:g.7045918G>T	ENSP00000349076:p.Gln496His	Somatic		WXS	Illumina HiSeq	Phase_I	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	37	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.771390	0.00645	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.58358	0.34;0.34;0.34	.	.	.	.	.	.	.	.	T	0.33323	0.0859	N	0.08118	0	0.09310	N	0.999995	P	0.43826	0.818	P	0.46629	0.522	T	0.18147	-1.0346	7	0.34782	T	0.22	.	.	.	.	.	496	P54259	ATN1_HUMAN	H	496;496;496;81	ENSP00000349076:Q496H;ENSP00000379915:Q496H;ENSP00000441744:Q496H	ENSP00000229279:Q81H	Q	+	3	2	ATN1	6916179	0.073000	0.21202	0.483000	0.27378	0.315000	0.28087	0.389000	0.20751	0.000000	0.14550	0.000000	0.15137	CAG		0.637	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2		NM_001940	
ATP1A1	476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	116939249	116939249	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:116939249C>G	ENST00000295598.5	+	14	2118	c.1866C>G	c.(1864-1866)atC>atG	p.I622M	ATP1A1_ENST00000537345.1_Missense_Mutation_p.I622M|ATP1A1_ENST00000369496.4_Missense_Mutation_p.I591M	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	622					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.I622M(1)		NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	ACCATCCAATCACAGCTAAAG	0.463																																																	1	Substitution - Missense(1)	kidney(1)											146.0	126.0	133.0					1																	116939249		2203	4300	6503	SO:0001583	missense	476			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1866C>G	1.37:g.116939249C>G	ENSP00000295598:p.Ile622Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	CCDS887.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933262	0.73442	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.95949	-3.86;-3.86;-3.86	5.14	4.2	0.49525	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.000000	0.85682	D	0.000000	D	0.96787	0.8951	M	0.78049	2.395	0.80722	D	1	P;P	0.45986	0.87;0.751	D;D	0.66979	0.944;0.948	D	0.97464	1.0036	10	0.87932	D	0	.	12.9269	0.58264	0.0:0.9188:0.0:0.0812	.	622;622	F5H3A1;P05023	.;AT1A1_HUMAN	M	622;622;621;591	ENSP00000295598:I622M;ENSP00000445306:I622M;ENSP00000358508:I591M	ENSP00000295598:I622M	I	+	3	3	ATP1A1	116740772	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	2.097000	0.41748	1.325000	0.45301	0.467000	0.42956	ATC		0.463	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5		NM_001160233	
BRWD1	54014	broad.mit.edu;hgsc.bcm.edu	37	21	40568620	40568620	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr21:40568620T>G	ENST00000333229.2	-	41	6702	c.6375A>C	c.(6373-6375)gaA>gaC	p.E2125D	BRWD1_ENST00000380800.3_Missense_Mutation_p.E2125D|BRWD1_ENST00000342449.3_Missense_Mutation_p.E2125D	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2125					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E2125D(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCCTTTTTACTTCCTTCTCTG	0.413																																					Melanoma(170;988 1986 4794 16843 39731)												2	Substitution - Missense(2)	kidney(2)											169.0	162.0	164.0					21																	40568620		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.6375A>C	21.37:g.40568620T>G	ENSP00000330753:p.Glu2125Asp	Somatic		WXS	Illumina HiSeq	Phase_I	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	3.957	-0.011111	0.07727	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.55588	0.51;0.52;0.57	5.53	2.0	0.26442	.	3.233610	0.00780	N	0.001268	T	0.52306	0.1726	M	0.62723	1.935	0.09310	N	1	P;P	0.38922	0.634;0.651	B;B	0.39258	0.295;0.154	T	0.29912	-0.9996	10	0.20046	T	0.44	-4.4605	7.8629	0.29520	0.0:0.3121:0.0:0.6879	.	2125;2125	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	D	2125	ENSP00000330753:E2125D;ENSP00000344333:E2125D;ENSP00000370178:E2125D	ENSP00000330753:E2125D	E	-	3	2	BRWD1	39490490	0.000000	0.05858	0.006000	0.13384	0.005000	0.04900	-0.138000	0.10374	0.413000	0.25759	0.533000	0.62120	GAA		0.413	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656	
CCDC186	55088	hgsc.bcm.edu;ucsc.edu	37	10	115917317	115917320	+	Frame_Shift_Del	DEL	TTAA	TTAA	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	TTAA	TTAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr10:115917317_115917320delTTAA	ENST00000369287.3	-	3	1018_1021	c.752_755delTTAA	c.(751-756)attaaafs	p.IK251fs		NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		251										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTTTACCTGTTTAATTGTGTTCAT	0.348																																																	0																																										SO:0001589	frameshift_variant	55088																														ENST00000369287.3:c.752_755delTTAA	10.37:g.115917317_115917320delTTAA	ENSP00000358293:p.Ile251fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Frame_Shift_Del	DEL	ENST00000369287.3	37	CCDS7587.1																																																																																				0.348	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			
HEATR9	256957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34182344	34182344	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr17:34182344A>T	ENST00000311880.2	-	15	1584	c.1436T>A	c.(1435-1437)cTc>cAc	p.L479H	C17orf66_ENST00000592980.1_Missense_Mutation_p.L439H	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		479					hematopoietic progenitor cell differentiation (GO:0002244)			p.L479H(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		ATATACAGAGAGAACCTTGTT	0.438																																																	1	Substitution - Missense(1)	kidney(1)											91.0	88.0	89.0					17																	34182344		2203	4300	6503	SO:0001583	missense	256957																														ENST00000311880.2:c.1436T>A	17.37:g.34182344A>T	ENSP00000309560:p.Leu479His	Somatic		WXS	Illumina HiSeq	Phase_I	B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.322225	0.41096	.	.	ENSG00000172653	ENST00000311880	T	0.55760	0.5	4.08	3.0	0.34707	.	0.960417	0.08546	N	0.929817	T	0.45418	0.1341	N	0.24115	0.695	0.09310	N	0.999998	D;D	0.61697	0.99;0.983	P;B	0.50192	0.634;0.431	T	0.26052	-1.0114	10	0.49607	T	0.09	.	6.2039	0.20591	0.8831:0.0:0.1169:0.0	.	439;479	A2RTY3-3;A2RTY3	.;CQ066_HUMAN	H	479	ENSP00000309560:L479H	ENSP00000309560:L479H	L	-	2	0	C17orf66	31206457	0.360000	0.24964	0.006000	0.13384	0.035000	0.12851	3.807000	0.55591	0.726000	0.32339	0.460000	0.39030	CTC		0.438	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			
CCDC136	64753	broad.mit.edu;ucsc.edu	37	7	128457873	128457873	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr7:128457873C>T	ENST00000297788.4	+	17	3792	c.3425C>T	c.(3424-3426)tCg>tTg	p.S1142L	CCDC136_ENST00000378685.4_Missense_Mutation_p.S422L|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Missense_Mutation_p.S434L|CCDC136_ENST00000487361.1_Missense_Mutation_p.S503L	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1142						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.S1258L(1)|p.S1142L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GTGGTCATCTCGGCTTTGCTC	0.557																																																	2	Substitution - Missense(2)	kidney(2)											274.0	274.0	274.0					7																	128457873		2129	4239	6368	SO:0001583	missense	64753				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3425C>T	7.37:g.128457873C>T	ENSP00000297788:p.Ser1142Leu	Somatic		WXS	Illumina GAIIx	Phase_I	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042343	0.55003	.	.	ENSG00000128596	ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788	T;T;T;T	0.44083	0.94;0.93;0.99;1.56	4.9	4.0	0.46444	.	0.362459	0.26126	N	0.026191	T	0.31544	0.0800	L	0.50333	1.59	0.29026	N	0.88598	B;P;B	0.49961	0.194;0.93;0.045	B;B;B	0.35899	0.02;0.213;0.006	T	0.46148	-0.9212	10	0.72032	D	0.01	.	9.6842	0.40089	0.0:0.8973:0.0:0.1027	.	503;1142;422	C9JE17;Q96JN2;Q96JN2-3	.;CC136_HUMAN;.	L	422;434;503;1142	ENSP00000367956:S422L;ENSP00000419515:S434L;ENSP00000420509:S503L;ENSP00000297788:S1142L	ENSP00000297788:S1142L	S	+	2	0	CCDC136	128245109	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.631000	0.37092	2.419000	0.82065	0.561000	0.74099	TCG		0.557	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1		NM_022742	
CEP95	90799	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	62506316	62506316	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr17:62506316A>C	ENST00000556440.2	+	3	684	c.174A>C	c.(172-174)caA>caC	p.Q58H	CEP95_ENST00000553412.1_5'UTR|CEP95_ENST00000581056.1_Missense_Mutation_p.Q58H	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	58						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)		p.Q58H(2)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						CTAGGAGTCAAGAAGATGATG	0.413																																																	2	Substitution - Missense(2)	kidney(2)											105.0	95.0	98.0					17																	62506316		1907	4161	6068	SO:0001583	missense	0			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.174A>C	17.37:g.62506316A>C	ENSP00000450461:p.Gln58His	Somatic		WXS	Illumina HiSeq	Phase_I	B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.271646	0.40194	.	.	ENSG00000258890	ENST00000553956;ENST00000556440	T;D	0.95412	1.41;-3.7	5.77	3.53	0.40419	.	0.240857	0.44097	D	0.000481	D	0.96256	0.8779	M	0.72118	2.19	0.80722	D	1	D	0.64830	0.994	P	0.60473	0.875	D	0.94796	0.7966	10	0.59425	D	0.04	-2.8574	8.8867	0.35406	0.839:0.0:0.161:0.0	.	58	Q96GE4	CEP95_HUMAN	H	58	ENSP00000452317:Q58H;ENSP00000450461:Q58H	ENSP00000438458:Q58H	Q	+	3	2	CEP95	59936778	1.000000	0.71417	0.999000	0.59377	0.004000	0.04260	2.377000	0.44300	0.484000	0.27630	0.459000	0.35465	CAA		0.413	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2		NM_138363	
CD163L1	283316	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7520737	7520737	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr12:7520737T>G	ENST00000313599.3	-	17	4186	c.4129A>C	c.(4129-4131)Att>Ctt	p.I1377L	CD163L1_ENST00000396630.1_Missense_Mutation_p.I1377L|CD163L1_ENST00000416109.2_Missense_Mutation_p.I1387L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1377						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.I1377L(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAAATAGAATAAACAGAACC	0.393																																																	1	Substitution - Missense(1)	kidney(1)											110.0	108.0	108.0					12																	7520737		2203	4300	6503	SO:0001583	missense	283316			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.4129A>C	12.37:g.7520737T>G	ENSP00000315945:p.Ile1377Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	CCDS8577.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.288|6.288	0.421198|0.421198	0.11928|0.11928	.|.	.|.	ENSG00000177675|ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630|ENST00000539726	T;T;T|.	0.01516|.	4.89;4.88;4.81|.	1.52|1.52	-1.21|-1.21	0.09524|0.09524	.|.	.|.	.|.	.|.	.|.	T|T	0.13628|0.13628	0.0330|0.0330	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P;P|.	0.35272|.	0.493;0.493|.	B;B|.	0.32928|.	0.107;0.155|.	T|T	0.23154|0.23154	-1.0196|-1.0196	9|5	0.07990|.	T|.	0.79|.	.|.	2.3193|2.3193	0.04207|0.04207	0.0:0.2065:0.3083:0.4851|0.0:0.2065:0.3083:0.4851	.|.	1387;1377|.	E7EVK4;Q9NR16|.	.;C163B_HUMAN|.	L|S	1377;1387;1377|32	ENSP00000315945:I1377L;ENSP00000393474:I1387L;ENSP00000379871:I1377L|.	ENSP00000315945:I1377L|.	I|Y	-|-	1|2	0|0	CD163L1|CD163L1	7412004|7412004	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.182000|0.182000	0.23217|0.23217	-0.443000|-0.443000	0.06862|0.06862	-0.350000|-0.350000	0.08262|0.08262	-0.376000|-0.376000	0.06991|0.06991	ATT|TAT		0.393	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1		NM_174941	
CDC14A	8556	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	100964518	100964518	+	Silent	SNP	A	A	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:100964518A>G	ENST00000336454.3	+	15	1810	c.1455A>G	c.(1453-1455)ctA>ctG	p.L485L	CDC14A_ENST00000542213.1_Silent_p.L427L|CDC14A_ENST00000361544.6_Silent_p.L485L|CDC14A_ENST00000544534.1_Silent_p.L485L|CDC14A_ENST00000370125.2_3'UTR	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	485					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L485L(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CCAGTTCTCTAGGGAACTTGA	0.463																																																	1	Substitution - coding silent(1)	kidney(1)											54.0	55.0	54.0					1																	100964518		2203	4300	6503	SO:0001819	synonymous_variant	8556			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1455A>G	1.37:g.100964518A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Silent	SNP	ENST00000336454.3	37	CCDS769.1																																																																																				0.463	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1		NM_033312	
CEACAM20	125931	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45026873	45026873	+	RNA	SNP	C	C	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:45026873C>T	ENST00000454753.1	-	0	819							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)		p.E181K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTGGAGCCCTCCATCACCTCA	0.498																																																	1	Substitution - Missense(1)	kidney(1)											95.0	104.0	101.0					19																	45026873		2128	4238	6366			125931			AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45026873C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000454753.1	37																																																																																					0.498	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1		NM_198444	
CPXM1	56265	broad.mit.edu;ucsc.edu	37	20	2777900	2777900	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr20:2777900T>G	ENST00000380605.2	-	6	834	c.770A>C	c.(769-771)cAg>cCg	p.Q257P		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	257	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Q257P(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GAGCCAGGTCTGGGGCAGCAG	0.662																																																	1	Substitution - Missense(1)	kidney(1)											23.0	27.0	25.0					20																	2777900		2198	4288	6486	SO:0001583	missense	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.770A>C	20.37:g.2777900T>G	ENSP00000369979:p.Gln257Pro	Somatic		WXS	Illumina GAIIx	Phase_I	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.086842	0.76642	.	.	ENSG00000088882	ENST00000380605	D	0.98958	-5.27	4.66	3.52	0.40303	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.062114	0.64402	D	0.000003	D	0.99205	0.9724	H	0.95780	3.72	0.48288	D	0.999621	D;D	0.69078	0.997;0.983	D;P	0.71656	0.974;0.8	D	0.99035	1.0822	10	0.62326	D	0.03	-22.1388	8.6487	0.34022	0.171:0.0:0.0:0.829	.	257;257	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	P	257	ENSP00000369979:Q257P	ENSP00000369979:Q257P	Q	-	2	0	CPXM1	2725900	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.752000	0.55172	0.768000	0.33290	0.459000	0.35465	CAG		0.662	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2		NM_019609	
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																																	0																																												0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G		Somatic		WXS	Illumina GAIIx	Phase_I	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																					0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1		NR_026752.1	
DENND3	22898	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	142186848	142186848	+	Silent	SNP	C	C	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr8:142186848C>A	ENST00000262585.2	+	15	2732	c.2454C>A	c.(2452-2454)gcC>gcA	p.A818A	DENND3_ENST00000519811.1_Silent_p.A898A|DENND3_ENST00000424248.1_Silent_p.A766A	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	818					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A818A(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAAGCTGGCCGATGACCACA	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											115.0	94.0	101.0					8																	142186848		2203	4300	6503	SO:0001819	synonymous_variant	22898			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.2454C>A	8.37:g.142186848C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	CCDS34947.1																																																																																				0.602	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_014957	
DHRS7C	201140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	9674867	9674867	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr17:9674867A>G	ENST00000330255.5	-	6	889	c.877T>C	c.(877-879)Ttc>Ctc	p.F293L	DHRS7C_ENST00000571134.1_Missense_Mutation_p.F292L	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	293					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)	p.F293L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						GCGAAAAAGAACTCCGGGAAG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											50.0	56.0	54.0					17																	9674867		2033	4171	6204	SO:0001583	missense	201140				CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.877T>C	17.37:g.9674867A>G	ENSP00000327975:p.Phe293Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.358276	0.41801	.	.	ENSG00000184544	ENST00000330255	D	0.85411	-1.98	5.5	2.12	0.27331	.	0.314716	0.39687	N	0.001292	T	0.54498	0.1862	N	0.01493	-0.835	0.32711	N	0.511622	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.53947	-0.8366	10	0.02654	T	1	.	4.9533	0.14025	0.6261:0.1472:0.2267:0.0	.	293;289	A6NNS2;B9EJH3	DRS7C_HUMAN;.	L	293	ENSP00000327975:F293L	ENSP00000327975:F293L	F	-	1	0	DHRS7C	9615592	0.116000	0.22171	0.997000	0.53966	0.993000	0.82548	0.532000	0.23067	0.171000	0.19730	0.528000	0.53228	TTC		0.597	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1		XM_113912	
DNAH1	25981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52402795	52402795	+	Missense_Mutation	SNP	C	C	A	rs370590676		TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr3:52402795C>A	ENST00000420323.2	+	37	6065	c.5804C>A	c.(5803-5805)gCc>gAc	p.A1935D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1935	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A1935D(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGGCGGGGGCCATCACCTCC	0.582																																																	2	Substitution - Missense(2)	kidney(2)						C	ASP/ALA	0,4120		0,0,2060	134.0	140.0	138.0		5804	4.9	0.5	3		138	1,8389		0,1,4194	no	missense	DNAH1	NM_015512.4	126	0,1,6254	AA,AC,CC		0.0119,0.0,0.0080	probably-damaging	1935/4266	52402795	1,12509	2060	4195	6255	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5804C>A	3.37:g.52402795C>A	ENSP00000401514:p.Ala1935Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132421	0.56828	0.0	1.19E-4	ENSG00000114841	ENST00000420323	T	0.38560	1.13	4.93	4.93	0.64822	.	0.156225	0.29473	N	0.012047	T	0.72581	0.3478	M	0.93808	3.46	0.58432	D	0.999999	D	0.53151	0.958	D	0.63283	0.913	T	0.80712	-0.1260	10	0.72032	D	0.01	.	18.3341	0.90282	0.0:1.0:0.0:0.0	.	1935	C9JXH6	.	D	1935	ENSP00000401514:A1935D	ENSP00000401514:A1935D	A	+	2	0	DNAH1	52377835	0.998000	0.40836	0.497000	0.27552	0.027000	0.11550	3.842000	0.55858	2.567000	0.86603	0.563000	0.77884	GCC		0.582	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1		NM_015512	
DNMT1	1786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10250366	10250366	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:10250366A>G	ENST00000340748.4	-	33	4121	c.3886T>C	c.(3886-3888)Ttc>Ctc	p.F1296L	DNMT1_ENST00000540357.1_Missense_Mutation_p.F1296L|DNMT1_ENST00000359526.4_Missense_Mutation_p.F1312L|DNMT1_ENST00000589538.1_5'Flank			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1296	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.F1296L(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	AGCACGCCGAAGGTGCACTGA	0.637																																																	1	Substitution - Missense(1)	kidney(1)											48.0	44.0	45.0					19																	10250366		2202	4300	6502	SO:0001583	missense	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3886T>C	19.37:g.10250366A>G	ENSP00000345739:p.Phe1296Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.972325	0.92919	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.83419	-1.72;-1.72;-1.72	5.2	5.2	0.72013	.	0.050006	0.85682	N	0.000000	D	0.85544	0.5721	L	0.58810	1.83	0.80722	D	1	P;B;P	0.45011	0.705;0.282;0.848	P;B;P	0.50825	0.519;0.278;0.651	D	0.87239	0.2265	10	0.87932	D	0	.	14.083	0.64937	1.0:0.0:0.0:0.0	.	1296;1312;1296	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	L	1312;1296;1296;1164	ENSP00000352516:F1312L;ENSP00000440457:F1296L;ENSP00000345739:F1296L	ENSP00000345739:F1296L	F	-	1	0	DNMT1	10111366	1.000000	0.71417	0.989000	0.46669	0.928000	0.56348	6.939000	0.75911	1.974000	0.57490	0.456000	0.33151	TTC		0.637	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1		NM_001379	
EPB41L5	57669	hgsc.bcm.edu;ucsc.edu	37	2	120847955	120847966	+	In_Frame_Del	DEL	ACTGGATCATCC	ACTGGATCATCC	-	rs553715778		TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	ACTGGATCATCC	ACTGGATCATCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr2:120847955_120847966delACTGGATCATCC	ENST00000263713.5	+	12	1120_1131	c.906_917delACTGGATCATCC	c.(904-918)agactggatcatcca>aga	p.LDHP303del	EPB41L5_ENST00000443124.1_In_Frame_Del_p.LDHP303del|EPB41L5_ENST00000443902.2_In_Frame_Del_p.LDHP303del|EPB41L5_ENST00000331393.4_In_Frame_Del_p.LDHP303del|EPB41L5_ENST00000452780.1_In_Frame_Del_p.LDHP303del	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	303	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TTGTCTTTAGACTGGATCATCCAAAAGCATGC	0.382																																																	0																																										SO:0001651	inframe_deletion	57669			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.906_917delACTGGATCATCC	2.37:g.120847955_120847966delACTGGATCATCC	ENSP00000263713:p.Leu303_Pro306del	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z5S1|Q8IZ12|Q9H975	In_Frame_Del	DEL	ENST00000263713.5	37	CCDS2130.1																																																																																				0.382	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2		NM_020909	
DNPEP	23549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu|broad.mit.edu;ucsc.edu	37	2	220239735	220239736	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr2:220239735_220239736CC>AA	ENST00000273075.4	-	14	1468_1469	c.1248_1249GG>TT	c.(1246-1251)atGGtc>atTTtc	p.416_417MV>IF	DNPEP_ENST00000373972.1_Missense_Mutation_p.341_342MV>IF|DNPEP_ENST00000523282.1_Missense_Mutation_p.424_425MV>IF|DNPEP_ENST00000490371.1_5'UTR	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	406					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V417F(1)|p.M416I(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATTCCGGACCATGAGATCCT	0.579																																																	2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	23549				CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.1248_1249delinsAA	2.37:g.220239735_220239736delinsAA	ENSP00000273075:p.M416_V417delinsIF	Somatic		WXS	Illumina HiSeq|Illumina GAIIx	Phase_I	Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	CCDS42823.1																																																																																				0.579	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1		NM_012100	
CLCNKA	1187	broad.mit.edu	37	1	16361925	16361925	+	IGR	SNP	G	G	A	rs146790110		TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:16361925G>A	ENST00000331433.4	+	0	2475							P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka						excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CGCTGGGAAGGCTGTCCTGAA	0.647																																																	0																																										SO:0001628	intergenic_variant	348487				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529		1.37:g.16361925G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	ENST00000331433.4	37	CCDS167.1																																																																																				0.647	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			
FAM186A	121006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	50745374	50745374	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr12:50745374delA	ENST00000327337.5	-	4	5240	c.5241delT	c.(5239-5241)gctfs	p.A1747fs	FAM186A_ENST00000543096.1_5'Flank|FAM186A_ENST00000543111.1_Frame_Shift_Del_p.A1747fs	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1747																	AGGACTTCTCAGCAGTAGGAG	0.507																																					NSCLC(138;1796 1887 12511 19463 37884)												0													57.0	52.0	53.0					12																	50745374		692	1591	2283	SO:0001589	frameshift_variant	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.5241delT	12.37:g.50745374delA	ENSP00000329995:p.Ala1747fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000327337.5	37	CCDS44878.1																																																																																				0.507	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396838.1		XM_001718353	
FAM3A	60343	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	153735234	153735234	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chrX:153735234C>T	ENST00000447601.2	-	9	1067	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	FAM3A_ENST00000492763.1_5'Flank|FAM3A_ENST00000393572.1_Missense_Mutation_p.V163M|FAM3A_ENST00000434658.2_Missense_Mutation_p.V184M|FAM3A_ENST00000359889.5_Missense_Mutation_p.V201M|FAM3A_ENST00000369643.1_Missense_Mutation_p.V201M|FAM3A_ENST00000369641.3_Missense_Mutation_p.V208M	NM_021806.2	NP_068578.2	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	201						extracellular region (GO:0005576)		p.V201M(1)		kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGTTCTTCACGTGCTGTGGG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											153.0	89.0	111.0					X																	153735234		2203	4300	6503	SO:0001583	missense	60343			X74610	CCDS35453.1, CCDS55542.1, CCDS55543.1, CCDS76060.1	Xq28	2008-07-29			ENSG00000071889	ENSG00000071889			13749	protein-coding gene	gene with protein product		300492				8733135, 8281148	Standard	NM_021806		Approved	DXS560S, 2-19, XAP-7	uc004fls.2	P98173	OTTHUMG00000013418	ENST00000447601.2:c.601G>A	X.37:g.153735234C>T	ENSP00000416146:p.Val201Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6QRH6|B2RBI7|B4DFI8|D3DWX4|Q5HY76|Q96H51	Missense_Mutation	SNP	ENST00000447601.2	37	CCDS35453.1	.	.	.	.	.	.	.	.	.	.	C	8.640	0.895836	0.17686	.	.	ENSG00000071889	ENST00000434658;ENST00000359889;ENST00000369643;ENST00000447601;ENST00000369641;ENST00000393572	T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97	5.38	3.19	0.36642	.	0.265266	0.41500	N	0.000862	T	0.06826	0.0174	N	0.02315	-0.6	0.30094	N	0.808064	B;B;B;B	0.31655	0.005;0.006;0.334;0.011	B;B;B;B	0.22152	0.006;0.005;0.038;0.016	T	0.17561	-1.0365	10	0.33141	T	0.24	-14.957	7.4454	0.27209	0.0:0.6719:0.0:0.3281	.	184;208;215;201	B4DFI8;Q5HY75;D3DWX8;P98173	.;.;.;FAM3A_HUMAN	M	184;201;201;201;208;163	ENSP00000396243:V184M;ENSP00000352955:V201M;ENSP00000358657:V201M;ENSP00000416146:V201M;ENSP00000358655:V208M;ENSP00000377202:V163M	ENSP00000352955:V201M	V	-	1	0	FAM3A	153388428	0.403000	0.25319	0.630000	0.29268	0.378000	0.30076	0.521000	0.22893	0.274000	0.22072	0.529000	0.55759	GTG		0.602	FAM3A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037362.2			
FBN2	2201	hgsc.bcm.edu;ucsc.edu	37	5	127686561	127686561	+	Splice_Site	DEL	T	T	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr5:127686561delT	ENST00000508053.1	-	27	3785	c.2811delA	c.(2809-2811)cta>ct	p.L937fs	FBN2_ENST00000508989.1_Splice_Site_p.L904fs|FBN2_ENST00000262464.4_Splice_Site_p.L937fs			P35556	FBN2_HUMAN	fibrillin 2	937	TB 4.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCTCCTACCTAGTTCACACC	0.542																																																	0													42.0	42.0	42.0					5																	127686561		2203	4300	6503	SO:0001630	splice_region_variant	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2812+1A>-	5.37:g.127686561delT		Somatic		WXS	Illumina HiSeq	Phase_I	B4DU01|Q59ES6	Frame_Shift_Del	DEL	ENST00000508053.1	37	CCDS34222.1																																																																																				0.542	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2		NM_001999	Frame_Shift_Del
FMNL3	91010	broad.mit.edu;hgsc.bcm.edu	37	12	50045173	50045173	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr12:50045173C>T	ENST00000293590.5	-	15	1897	c.1664G>A	c.(1663-1665)gGc>gAc	p.G555D	FMNL3_ENST00000352151.5_Missense_Mutation_p.G504D|FMNL3_ENST00000550488.1_Missense_Mutation_p.G555D|FMNL3_ENST00000335154.5_Missense_Mutation_p.G555D			Q8IVF7	FMNL3_HUMAN	formin-like 3	555					actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)	p.G555D(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						ACCTGACAGGCCCACTGTCAA	0.607																																																	2	Substitution - Missense(2)	kidney(2)											32.0	35.0	34.0					12																	50045173		1959	4151	6110	SO:0001583	missense	91010			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1664G>A	12.37:g.50045173C>T	ENSP00000293590:p.Gly555Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37		.	.	.	.	.	.	.	.	.	.	C	26.2	4.718758	0.89205	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.82893	-1.54;-1.56;-1.66;-1.55	5.25	5.25	0.73442	Actin-binding FH2 (1);	0.000000	0.85682	D	0.000000	D	0.86117	0.5856	L	0.38175	1.15	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.974;0.999;0.998	T	0.81048	-0.1109	10	0.12103	T	0.63	.	17.9715	0.89115	0.0:1.0:0.0:0.0	.	504;555;555	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	D	555;555;504;555	ENSP00000335655:G555D;ENSP00000447479:G555D;ENSP00000344311:G504D;ENSP00000293590:G555D	ENSP00000293590:G555D	G	-	2	0	FMNL3	48331440	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.239000	0.58694	2.616000	0.88540	0.655000	0.94253	GGC		0.607	FMNL3-201	KNOWN	basic	protein_coding	protein_coding			NM_175736	
FSTL5	56884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	162307412	162307412	+	Silent	SNP	G	G	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr4:162307412G>A	ENST00000306100.5	-	16	2467	c.2031C>T	c.(2029-2031)gtC>gtT	p.V677V	RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Silent_p.V667V|FSTL5_ENST00000536695.1_Silent_p.V676V|FSTL5_ENST00000379164.4_Silent_p.V676V	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	677						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.V677V(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CGTCCACCATGACCTGTGGGG	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											114.0	104.0	107.0					4																	162307412		2203	4300	6503	SO:0001819	synonymous_variant	56884			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2031C>T	4.37:g.162307412G>A		Somatic		WXS	Illumina HiSeq	Phase_I	E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	CCDS3802.1																																																																																				0.493	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2		NM_020116	
GPR85	54329	broad.mit.edu	37	7	112724772	112724772	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr7:112724772G>A	ENST00000297146.3	-	3	608	c.5C>T	c.(4-6)gCg>gTg	p.A2V	GPR85_ENST00000424100.1_Missense_Mutation_p.A2V|GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000449591.1_Missense_Mutation_p.A2V|GPR85_ENST00000501255.2_Missense_Mutation_p.A2V	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	2					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A2V(1)|p.A2G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GCTATAGTTCGCCATAGATGG	0.398																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											27.0	27.0	27.0					7																	112724772		2203	4300	6503	SO:0001583	missense	54329			AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.5C>T	7.37:g.112724772G>A	ENSP00000297146:p.Ala2Val	Somatic		WXS	Illumina GAIIx	Phase_I	Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278594	0.59758	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591;ENST00000449735;ENST00000438062	T;T;T;T;T	0.60797	0.55;0.55;0.55;0.55;0.16	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.35770	0.0943	N	0.08118	0	0.80722	D	1	P	0.43633	0.813	B	0.27715	0.082	T	0.49399	-0.8944	10	0.72032	D	0.01	.	19.7321	0.96186	0.0:0.0:1.0:0.0	.	2	P60893	GPR85_HUMAN	V	2	ENSP00000445808:A2V;ENSP00000297146:A2V;ENSP00000396763:A2V;ENSP00000401178:A2V;ENSP00000415699:A2V	ENSP00000297146:A2V	A	-	2	0	GPR85	112512008	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.845000	0.99498	2.668000	0.90789	0.655000	0.94253	GCG		0.398	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			
GTF2F1	2962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	6381619	6381619	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:6381619G>C	ENST00000394456.5	-	8	1308	c.844C>G	c.(844-846)Caa>Gaa	p.Q282E	PSPN_ENST00000597721.1_5'Flank|GTF2F1_ENST00000429701.2_Missense_Mutation_p.Q197E	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	282					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	catalytic activity (GO:0003824)|DNA binding (GO:0003677)|phosphatase activator activity (GO:0019211)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Q282E(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GGCTCTTCTTGGGAGCTACTG	0.697																																																	1	Substitution - Missense(1)	kidney(1)											49.0	48.0	48.0					19																	6381619		2202	4299	6501	SO:0001583	missense	2962				CCDS12165.1	19p13.3	2010-03-23	2002-08-29		ENSG00000125651	ENSG00000125651		"""General transcription factors"""	4652	protein-coding gene	gene with protein product		189968	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			1734284	Standard	NM_002096		Approved	TFIIF, BTF4, RAP74, TF2F1	uc002meq.2	P35269	OTTHUMG00000168087	ENST00000394456.5:c.844C>G	19.37:g.6381619G>C	ENSP00000377969:p.Gln282Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCS0|Q9BWN0	Missense_Mutation	SNP	ENST00000394456.5	37	CCDS12165.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.053436	0.00394	.	.	ENSG00000125651	ENST00000394456;ENST00000429701;ENST00000542045	T;T	0.39592	1.07;1.07	5.23	-0.156	0.13391	.	0.822162	0.10734	N	0.640203	T	0.19446	0.0467	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.18840	-1.0324	10	0.02654	T	1	-15.233	14.41	0.67109	0.0:0.6513:0.2409:0.1078	.	197;180;282	E7EUG6;B4DDB5;P35269	.;.;T2FA_HUMAN	E	282;197;342	ENSP00000377969:Q282E;ENSP00000392107:Q197E	ENSP00000377969:Q282E	Q	-	1	0	GTF2F1	6332619	0.000000	0.05858	0.014000	0.15608	0.101000	0.19017	0.033000	0.13754	0.120000	0.18254	-0.152000	0.13540	CAA		0.697	GTF2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398033.1		NM_002096	
ARHGAP35	2909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	47491245	47491245	+	Splice_Site	SNP	G	G	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:47491245G>C	ENST00000404338.3	+	3	3826		c.e3-1			NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35						axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.?(2)									TTTCTCCTCAGGACTGAGCAC	0.557																																																	2	Unknown(2)	kidney(2)											57.0	61.0	60.0					19																	47491245		2166	4279	6445	SO:0001630	splice_region_variant	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.3827-1G>C	19.37:g.47491245G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A7E2A4|Q14452|Q9C0E1	Splice_Site	SNP	ENST00000404338.3	37	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172659	0.57584	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9825	0.89146	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGAP35	52183085	1.000000	0.71417	0.981000	0.43875	0.402000	0.30811	7.214000	0.77958	2.556000	0.86216	0.655000	0.94253	.		0.557	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491	Intron
HERC2	8924	broad.mit.edu;hgsc.bcm.edu	37	15	28499508	28499508	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr15:28499508G>C	ENST00000261609.7	-	20	3136	c.3028C>G	c.(3028-3030)Cag>Gag	p.Q1010E		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.Q1010E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGTATGAGCTGAACCAGAGGC	0.383																																																	1	Substitution - Missense(1)	kidney(1)											67.0	57.0	60.0					15																	28499508		2203	4300	6503	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.3028C>G	15.37:g.28499508G>C	ENSP00000261609:p.Gln1010Glu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905517	0.72868	.	.	ENSG00000128731	ENST00000261609	T	0.41065	1.01	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.59115	0.2170	M	0.68317	2.08	0.80722	D	1	P	0.40332	0.713	P	0.51806	0.68	T	0.60156	-0.7318	10	0.59425	D	0.04	.	19.083	0.93190	0.0:0.0:1.0:0.0	.	1010	O95714	HERC2_HUMAN	E	1010	ENSP00000261609:Q1010E	ENSP00000261609:Q1010E	Q	-	1	0	HERC2	26173103	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	9.867000	0.99620	2.513000	0.84729	0.460000	0.39030	CAG		0.383	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2		NM_004667	
HLA-DRB5	3127	hgsc.bcm.edu	37	6	32489792	32489792	+	Missense_Mutation	SNP	G	G	T	rs41562816	byFrequency	TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr6:32489792G>T	ENST00000374975.3	-	2	322	c.260C>A	c.(259-261)gCt>gAt	p.A87D		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						CCAGTACTCAGCGTCAGGCCG	0.612													G|||	386	0.0770767	0.1104	0.062	5008	,	,		4380	0.0427		0.0974	False		,,,				2504	0.0573																0								G	ASP/ALA	24,4310		1,22,2144	41.0	38.0	39.0		260	1.8	0.0	6	dbSNP_127	39	25,8437		0,25,4206	no	missense	HLA-DRB5	NM_002125.3	126	1,47,6350	TT,TG,GG		0.2954,0.5538,0.3829	possibly-damaging	87/267	32489792	49,12747	2167	4231	6398	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.260C>A	6.37:g.32489792G>T	ENSP00000364114:p.Ala87Asp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	19.01	3.743850	0.69418	0.005538	0.002954	ENSG00000198502	ENST00000374975	T	0.00420	7.47	4.72	1.79	0.24919	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	0.288263	0.31554	N	0.007451	T	0.00936	0.0031	H	0.99507	4.6	0.09310	N	0.999996	D;D	0.76494	0.977;0.999	D;D	0.77557	0.99;0.982	T	0.43605	-0.9381	10	0.87932	D	0	.	6.4918	0.22119	0.1765:0.1492:0.6743:0.0	rs41562816	14;87	Q29973;Q30154	.;DRB5_HUMAN	D	87	ENSP00000364114:A87D	ENSP00000364114:A87D	A	-	2	0	HLA-DRB5	32597770	0.019000	0.18553	0.000000	0.03702	0.427000	0.31564	1.458000	0.35223	0.051000	0.15978	0.430000	0.28490	GCT		0.612	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2		NM_002125	
HLA-DRB5	3127	hgsc.bcm.edu	37	6	32489794	32489794	+	Silent	SNP	G	G	A	rs1059350	byFrequency	TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr6:32489794G>A	ENST00000374975.3	-	2	320	c.258C>T	c.(256-258)gaC>gaT	p.D86D		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						AGTACTCAGCGTCAGGCCGCC	0.612													G|||	2187	0.436701	0.5348	0.5086	5008	,	,		4389	0.2887		0.4811	False		,,,				2504	0.3599																0								G		1932,2400		578,776,812	41.0	38.0	39.0		258	-4.2	0.0	6	dbSNP_86	39	3121,5341		705,1711,1815	no	coding-synonymous	HLA-DRB5	NM_002125.3		1283,2487,2627	AA,AG,GG		36.8825,44.5983,39.4951		86/267	32489794	5053,7741	2166	4231	6397	SO:0001819	synonymous_variant	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.258C>T	6.37:g.32489794G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000374975.3	37	CCDS4751.1																																																																																				0.612	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2		NM_002125	
HLA-E	3133	broad.mit.edu	37	6	30459116	30459116	+	Silent	SNP	T	T	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr6:30459116T>A	ENST00000376630.4	+	4	878	c.813T>A	c.(811-813)ccT>ccA	p.P271P		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	271	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)	p.P271P(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						TGGTGGTGCCTTCTGGAGAGG	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											97.0	84.0	88.0					6																	30459116		1511	2707	4218	SO:0001819	synonymous_variant	3133			M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.813T>A	6.37:g.30459116T>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q30169|Q9BT83|Q9GIY7|Q9GIY8	Silent	SNP	ENST00000376630.4	37	CCDS34379.1																																																																																				0.627	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2		NM_005516	
HLA-DRB5	3127	hgsc.bcm.edu	37	6	32489825	32489825	+	Missense_Mutation	SNP	T	T	A	rs148834340	byFrequency	TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr6:32489825T>A	ENST00000374975.3	-	2	289	c.227A>T	c.(226-228)tAc>tTc	p.Y76F		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						CACCGCCCGGTACTCCCCCAC	0.617													T|||	708	0.141374	0.1846	0.0778	5008	,	,		4676	0.1667		0.1312	False		,,,				2504	0.1125																0													37.0	34.0	35.0					6																	32489825		2158	4211	6369	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.227A>T	6.37:g.32489825T>A	ENSP00000364114:p.Tyr76Phe	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	135	0.061813186813186816	42	0.08536585365853659	28	0.07734806629834254	28	0.04895104895104895	37	0.048812664907651716	.	8.312	0.822355	0.16678	.	.	ENSG00000198502	ENST00000374975	T	0.00235	8.48	4.72	-9.43	0.00607	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	0.724315	0.13812	N	0.361053	T	0.00039	0.0001	N	0.12569	0.235	0.09310	N	1	B;B	0.21905	0.002;0.062	B;B	0.32393	0.014;0.145	T	0.34725	-0.9817	10	0.11182	T	0.66	.	9.9706	0.41752	0.6738:0.0:0.1796:0.1466	.	3;76	Q29973;Q30154	.;DRB5_HUMAN	F	76	ENSP00000364114:Y76F	ENSP00000364114:Y76F	Y	-	2	0	HLA-DRB5	32597803	0.000000	0.05858	0.000000	0.03702	0.920000	0.55202	-6.497000	0.00064	-2.805000	0.00350	0.352000	0.21897	TAC		0.617	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2		NM_002125	
KRTAP5-11	440051	hgsc.bcm.edu	37	11	71293803	71293805	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	GCC	GCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr11:71293803_71293805delGCC	ENST00000398530.1	-	1	116_118	c.79_81delGGC	c.(79-81)ggcdel	p.G27del	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	27						keratin filament (GO:0045095)		p.G27C(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCCCCCACAGCCAGAGCCACAG	0.64																																																	1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	440051			AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.79_81delGGC	11.37:g.71293803_71293805delGCC	ENSP00000381541:p.Gly27del	Somatic		WXS	Illumina HiSeq	Phase_I		In_Frame_Del	DEL	ENST00000398530.1	37	CCDS41685.1																																																																																				0.640	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1		NM_001005405	
Unknown	0	broad.mit.edu	37	15	21934898	21934899	+	IGR	INS	-	-	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr15:21934898_21934899insC								RP11-854K16.3 (599474 upstream) : RP11-32B5.7 (6247 downstream)																							AATTATTTTTTATTCATGATTT	0.361																																																	0																																										SO:0001628	intergenic_variant	646214																															15.37:g.21934898_21934899insC		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	INS		37																																																																																				0	0.361									
RP11-32B5.7	0	broad.mit.edu	37	15	21940266	21940267	+	lincRNA	INS	-	-	A	rs150817229	byFrequency	TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr15:21940266_21940267insA	ENST00000500487.1	-	0	4322																											ACAAAGAGTATAAAAAACAAAA	0.307													?|AAAAAA|AAAAAAA|unsure	621	0.124002	0.1868	0.0735	5008	,	,		46693	0.0327		0.1312	False		,,,				2504	0.1616																0																																												646214																															15.37:g.21940272_21940272dupA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	INS	ENST00000500487.1	37																																																																																					0.307	RP11-32B5.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000431557.1			
LRCH1	23143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	47279205	47279205	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr13:47279205T>C	ENST00000389798.3	+	12	1600	c.1403T>C	c.(1402-1404)tTa>tCa	p.L468S	LRCH1_ENST00000389797.3_Missense_Mutation_p.L468S|LRCH1_ENST00000311191.6_Missense_Mutation_p.L468S	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	468								p.L468S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CTCTTTAGATTAAGCACAGAT	0.274																																																	2	Substitution - Missense(2)	kidney(2)											77.0	83.0	81.0					13																	47279205		2203	4294	6497	SO:0001583	missense	23143			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1403T>C	13.37:g.47279205T>C	ENSP00000374448:p.Leu468Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.946719	0.34377	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.56103	0.52;0.57;0.48	5.95	5.95	0.96441	.	0.236808	0.36740	N	0.002440	T	0.62780	0.2456	M	0.64997	1.995	0.40640	D	0.981936	D;P;D;B	0.63880	0.987;0.911;0.993;0.168	P;P;P;B	0.61397	0.776;0.549;0.888;0.03	T	0.60490	-0.7253	10	0.07990	T	0.79	-3.9433	13.7969	0.63177	0.0:0.0:0.0:1.0	.	468;468;468;468	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	S	468	ENSP00000308493:L468S;ENSP00000374448:L468S;ENSP00000374447:L468S	ENSP00000308493:L468S	L	+	2	0	LRCH1	46177206	1.000000	0.71417	0.912000	0.35992	0.332000	0.28634	4.796000	0.62496	2.279000	0.76181	0.533000	0.62120	TTA		0.274	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2		NM_015116	
LRRK2	120892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	40745464	40745465	+	Missense_Mutation	DNP	CT	CT	GA			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr12:40745464_40745465CT>GA	ENST00000298910.7	+	44	6563_6564	c.6505_6506CT>GA	c.(6505-6507)CTg>GAg	p.L2169E		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2169					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.L2176V(1)|p.L2169Q(1)|p.L2169V(1)|p.L2176Q(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAGCATTTGGCTGGGCTGTGGG	0.406																																																	4	Substitution - Missense(4)	kidney(4)																																								SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	Exception_encountered	12.37:g.40745464_40745465delinsGA	ENSP00000298910:p.Leu2169Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1																																																																																				0.406	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1		XM_058513	
LRP1	4035	broad.mit.edu;hgsc.bcm.edu	37	12	57588207	57588207	+	Silent	SNP	C	C	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr12:57588207C>A	ENST00000243077.3	+	49	8455	c.7989C>A	c.(7987-7989)acC>acA	p.T2663T	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2663	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.T2663T(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCGAGCGGACCTCACTCTGCT	0.662																																																	1	Substitution - coding silent(1)	kidney(1)											88.0	85.0	86.0					12																	57588207		2203	4300	6503	SO:0001819	synonymous_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7989C>A	12.37:g.57588207C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	CCDS8932.1																																																																																				0.662	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332	
LYPD5	284348	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44301842	44301842	+	Silent	SNP	G	G	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:44301842G>T	ENST00000377950.3	-	5	737	c.657C>A	c.(655-657)acC>acA	p.T219T	AC115522.3_ENST00000595680.1_lincRNA|LYPD5_ENST00000594013.1_Silent_p.T176T|LYPD5_ENST00000414615.2_Silent_p.T176T	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	219						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T219T(1)|p.T176T(1)		breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				TGAAGGGCTGGGTCATGGATT	0.652																																																	2	Substitution - coding silent(2)	kidney(2)											131.0	117.0	122.0					19																	44301842		2203	4300	6503	SO:0001819	synonymous_variant	284348			AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.657C>A	19.37:g.44301842G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6PEX9|Q96DR2	Silent	SNP	ENST00000377950.3	37	CCDS46096.1																																																																																				0.652	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463611.1		NM_182573	
MAP3K1	4214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	56152549	56152549	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr5:56152549T>A	ENST00000399503.3	+	2	605	c.605T>A	c.(604-606)tTg>tAg	p.L202*	AC008937.2_ENST00000415589.1_RNA|snoU13_ENST00000459264.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	202					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.L39*(1)|p.L202*(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CACGAATGGTTGGAAAGGAGA	0.458																																																	2	Substitution - Nonsense(2)	kidney(2)											124.0	127.0	126.0					5																	56152549		1908	4114	6022	SO:0001587	stop_gained	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.605T>A	5.37:g.56152549T>A	ENSP00000382423:p.Leu202*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000399503.3	37	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	T	36	5.748917	0.96882	.	.	ENSG00000095015	ENST00000399503	.	.	.	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.1146	0.81295	0.0:0.0:0.0:1.0	.	.	.	.	X	202	.	ENSP00000382423:L202X	L	+	2	0	MAP3K1	56188306	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.817000	0.75252	2.260000	0.74910	0.528000	0.53228	TTG		0.458	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2		XM_042066	
MBD3L3	653657	hgsc.bcm.edu	37	19	7056593	7056593	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:7056593delC	ENST00000333843.4	-	2	401	c.367delG	c.(367-369)gccfs	p.A123fs		NM_001164425.1	NP_001157897.1	A6NE82	MB3L3_HUMAN	methyl-CpG binding domain protein 3-like 3	123					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					central_nervous_system(1)|lung(5)|stomach(1)	7						GATTCACCGGCCGTCCCCGGT	0.647																																																	0													33.0	43.0	40.0					19																	7056593		692	1591	2283	SO:0001589	frameshift_variant	653657				CCDS45944.1	19p13.2	2014-04-01			ENSG00000182315	ENSG00000182315			37205	protein-coding gene	gene with protein product							Standard	NM_001164425		Approved		uc021uns.1	A6NE82	OTTHUMG00000181976	ENST00000333843.4:c.367delG	19.37:g.7056593delC	ENSP00000333183:p.Ala123fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000333843.4	37	CCDS45944.1																																																																																				0.647	MBD3L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458500.1		NM_001164425	
MCCC1	56922	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	182740269	182740269	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr3:182740269A>G	ENST00000265594.4	-	16	1951	c.1805T>C	c.(1804-1806)gTt>gCt	p.V602A	MCCC1_ENST00000492597.1_Missense_Mutation_p.V493A|MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_3'UTR	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	602					biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.V602A(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	AACTCCATTAACAGAACATTT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											87.0	86.0	86.0					3																	182740269		2203	4300	6503	SO:0001583	missense	56922			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1805T>C	3.37:g.182740269A>G	ENSP00000265594:p.Val602Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	ENST00000265594.4	37	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.962551	0.53400	.	.	ENSG00000078070	ENST00000265594;ENST00000492597;ENST00000392616;ENST00000476176	D;D;D	0.95724	-3.79;-3.73;-3.66	5.58	5.58	0.84498	.	0.347485	0.32769	N	0.005670	D	0.93566	0.7946	L	0.59436	1.845	0.80722	D	1	B;B;B	0.28820	0.156;0.224;0.012	B;B;B	0.25614	0.043;0.062;0.031	D	0.91830	0.5474	10	0.38643	T	0.18	.	15.6978	0.77515	1.0:0.0:0.0:0.0	.	555;493;602	E9PG35;E9PHF7;Q96RQ3	.;.;MCCA_HUMAN	A	602;493;452;555	ENSP00000265594:V602A;ENSP00000419898:V493A;ENSP00000420433:V555A	ENSP00000265594:V602A	V	-	2	0	MCCC1	184222963	1.000000	0.71417	0.211000	0.23655	0.984000	0.73092	7.438000	0.80431	2.250000	0.74265	0.533000	0.62120	GTT		0.353	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1		NM_020166	
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9087338	9087338	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:9087338A>G	ENST00000397910.4	-	1	4680	c.4477T>C	c.(4477-4479)Tcc>Ccc	p.S1493P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1493	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.S1493P(2)		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						GAAGGTGTGGACATAGGTGGA	0.418																																																	2	Substitution - Missense(2)	kidney(2)											220.0	207.0	211.0					19																	9087338		1937	4138	6075	SO:0001583	missense	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.4477T>C	19.37:g.9087338A>G	ENSP00000381008:p.Ser1493Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	9.197	1.027415	0.19512	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	1.01	1.01	0.19927	.	.	.	.	.	T	0.03739	0.0106	N	0.08118	0	.	.	.	D	0.62365	0.991	D	0.65323	0.934	T	0.43491	-0.9388	8	0.87932	D	0	.	4.2429	0.10658	1.0:0.0:0.0:0.0	.	1493	B5ME49	.	P	1493	ENSP00000381008:S1493P	ENSP00000381008:S1493P	S	-	1	0	MUC16	8948338	0.001000	0.12720	0.013000	0.15412	0.860000	0.49131	-0.066000	0.11598	0.708000	0.31955	0.260000	0.18958	TCC		0.418	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MUC4	4585	hgsc.bcm.edu	37	3	195511438	195511438	+	Missense_Mutation	SNP	G	G	T	rs201323238	byFrequency	TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr3:195511438G>T	ENST00000463781.3	-	2	7472	c.7013C>A	c.(7012-7014)cCt>cAt	p.P2338H	MUC4_ENST00000475231.1_Missense_Mutation_p.P2338H|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTAGTGACAGGAAGAGGCGT	0.587													.|||	39	0.00778754	0.0129	0.0	5008	,	,		19888	0.0		0.0149	False		,,,				2504	0.0072																0													5.0	6.0	6.0					3																	195511438		562	1469	2031	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7013C>A	3.37:g.195511438G>T	ENSP00000417498:p.Pro2338His	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	G	3.084	-0.188260	0.06299	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37235	1.21;1.32	.	.	.	.	.	.	.	.	T	0.28797	0.0714	N	0.19112	0.55	0.09310	N	1	D	0.54964	0.969	P	0.52481	0.7	T	0.15521	-1.0434	7	.	.	.	.	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	2338	E7ESK3	.	H	2338	ENSP00000417498:P2338H;ENSP00000420243:P2338H	.	P	-	2	0	MUC4	196995833	0.018000	0.18449	0.018000	0.16275	0.022000	0.10575	2.239000	0.43079	0.064000	0.16427	0.064000	0.15345	CCT		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MYO18B	84700	broad.mit.edu;ucsc.edu	37	22	26272193	26272193	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr22:26272193T>G	ENST00000407587.2	+	24	4290	c.4121T>G	c.(4120-4122)gTg>gGg	p.V1374G	MYO18B_ENST00000536101.1_Missense_Mutation_p.V1373G|MYO18B_ENST00000335473.7_Missense_Mutation_p.V1373G			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1373						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V1374G(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGAAGAATGTGGCTGTGTTC	0.567																																																	1	Substitution - Missense(1)	kidney(1)											42.0	46.0	45.0					22																	26272193		2086	4215	6301	SO:0001583	missense	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4121T>G	22.37:g.26272193T>G	ENSP00000386096:p.Val1374Gly	Somatic		WXS	Illumina GAIIx	Phase_I	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37		.	.	.	.	.	.	.	.	.	.	T	18.62	3.662577	0.67700	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.72835	-0.69;-0.69;-0.69	5.05	5.05	0.67936	.	0.520810	0.18276	N	0.146167	T	0.69223	0.3087	L	0.39633	1.23	0.32193	N	0.578844	P;P;P;P	0.50943	0.898;0.901;0.925;0.94	P;B;P;P	0.48921	0.595;0.391;0.491;0.595	T	0.77242	-0.2660	10	0.87932	D	0	.	13.0221	0.58794	0.0:0.0:0.0:1.0	.	886;1373;1374;1373	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	G	1373;1373;1374	ENSP00000441229:V1373G;ENSP00000334563:V1373G;ENSP00000386096:V1374G	ENSP00000334563:V1373G	V	+	2	0	MYO18B	24602193	0.843000	0.29541	0.656000	0.29637	0.975000	0.68041	6.231000	0.72307	2.022000	0.59522	0.528000	0.53228	GTG		0.567	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1		NM_032608	
MYO5B	4645	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	47500800	47500800	+	Silent	SNP	G	G	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr18:47500800G>T	ENST00000285039.7	-	10	1541	c.1242C>A	c.(1240-1242)ggC>ggA	p.G414G		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	414	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.G414G(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCACAATCCAGCCGAACAACT	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											138.0	149.0	145.0					18																	47500800		2177	4263	6440	SO:0001819	synonymous_variant	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1242C>A	18.37:g.47500800G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	CCDS42436.1																																																																																				0.592	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			
NBPF8	728841	broad.mit.edu	37	1	144220850	144220850	+	Missense_Mutation	SNP	T	T	G	rs370047452		TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:144220850T>G	ENST00000369373.5	+	2	117	c.117T>G	c.(115-117)tgT>tgG	p.C39W				Q3BBV2	NBPF8_HUMAN	neuroblastoma breakpoint family, member 8	679						cytoplasm (GO:0005737)											TGGATAGATGTTATTCGACTC	0.493																																																	0																																										SO:0001583	missense	400818			AY894572		1q21.1	2014-04-01	2013-04-24	2013-04-24	ENSG00000162825	ENSG00000162825		"""neuroblastoma breakpoint family"""	31990	protein-coding gene	gene with protein product		613998	"""neuroblastoma breakpoint family, member 8, pseudogene"""	NBPF8P		16079250	Standard	NM_001037501		Approved			Q3BBV2	OTTHUMG00000074805	ENST00000369373.5:c.117T>G	1.37:g.144220850T>G	ENSP00000358380:p.Cys39Trp	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000369373.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.618|8.618	0.890619|0.890619	0.17613|0.17613	.|.	.|.	ENSG00000162825|ENSG00000162825	ENST00000369373|ENST00000369365	T|.	0.09163|.	3.01|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39835|.	0.1093|.	.|.	.|.	.|.	.|.	.|.	.|.	P;B;B;B|.	0.50943|.	0.94;0.009;0.004;0.019|.	P;B;B;B|.	0.61658|.	0.892;0.013;0.029;0.029|.	T|.	0.29610|.	-1.0006|.	4|.	0.52906|.	T|.	0.07|.	.|.	.|.	.|.	.|.	.|.	445;41;612;387|.	Q5VTG8;A8K9F1;B4DG53;Q8IX72|.	.;.;.;.|.	W|G	39|3590	ENSP00000358380:C39W|.	ENSP00000358380:C39W|.	C|V	+|+	3|2	2|0	RP3-377D14.1|RP3-377D14.1	142932207|142932207	0.752000|0.752000	0.28338|0.28338	.|.	.|.	.|.	.|.	-0.289000|-0.289000	0.08365|0.08365	.|.	.|.	.|.	.|.	TGT|GTT		0.493	NBPF8-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding				
NFATC3	4775	broad.mit.edu;ucsc.edu	37	16	68224816	68224816	+	Silent	SNP	T	T	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr16:68224816T>A	ENST00000346183.3	+	9	2268	c.2244T>A	c.(2242-2244)atT>atA	p.I748I	NFATC3_ENST00000535127.2_3'UTR|SNORA48_ENST00000391143.1_RNA|NFATC3_ENST00000575270.1_Silent_p.I748I|NFATC3_ENST00000349223.5_Silent_p.I748I|NFATC3_ENST00000329524.4_Silent_p.I748I	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	748					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.I748I(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GAAGTTTGATTTGCTCCATCC	0.473																																																	2	Substitution - coding silent(2)	kidney(2)											124.0	102.0	109.0					16																	68224816		2198	4300	6498	SO:0001819	synonymous_variant	4775			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2244T>A	16.37:g.68224816T>A		Somatic		WXS	Illumina GAIIx	Phase_I	O75211|Q14516|Q99840|Q99841|Q99842	Silent	SNP	ENST00000346183.3	37	CCDS10860.1																																																																																				0.473	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2		NM_004555	
NFIX	4784	broad.mit.edu;hgsc.bcm.edu	37	19	13136046	13136046	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:13136046G>T	ENST00000592199.1	+	2	239	c.239G>T	c.(238-240)cGc>cTc	p.R80L	NFIX_ENST00000360105.4_Missense_Mutation_p.R83L|NFIX_ENST00000587760.1_Missense_Mutation_p.R72L|NFIX_ENST00000587260.1_Missense_Mutation_p.R79L|NFIX_ENST00000585575.1_Missense_Mutation_p.R72L|NFIX_ENST00000358552.3_Missense_Mutation_p.R79L|NFIX_ENST00000397661.2_Missense_Mutation_p.R80L|NFIX_ENST00000588228.1_Missense_Mutation_p.R33L			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	80					astrocyte differentiation (GO:0048708)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell layer development (GO:0021680)|DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R80L(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GCCAAGCTGCGCAAGGACATC	0.657																																																	2	Substitution - Missense(2)	kidney(2)											58.0	59.0	59.0					19																	13136046		2203	4300	6503	SO:0001583	missense	4784			U18761	CCDS45996.1, CCDS59359.1	19p13.3	2008-02-05				ENSG00000008441			7788	protein-coding gene	gene with protein product		164005				8340106, 7590749	Standard	NM_001271043		Approved	NF1A	uc010xmx.2	Q14938		ENST00000592199.1:c.239G>T	19.37:g.13136046G>T	ENSP00000467512:p.Arg80Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DM25|O60413|Q0VG09|Q12859|Q13050|Q13052|Q5U094|Q9UPH1|Q9Y6R8	Missense_Mutation	SNP	ENST00000592199.1	37		.	.	.	.	.	.	.	.	.	.	G	18.54	3.646983	0.67358	.	.	ENSG00000008441	ENST00000397661;ENST00000360105;ENST00000264825;ENST00000438869;ENST00000358552	T;T	0.77750	-1.12;-1.12	5.26	4.23	0.50019	MAD homology 1, Dwarfin-type (2);CTF transcription factor/nuclear factor 1, DNA-binding domain (1);	0.065251	0.64402	D	0.000007	D	0.85852	0.5793	M	0.68317	2.08	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.998;0.997;0.999;0.998	D;D;D;D;D	0.87578	0.994;0.99;0.986;0.998;0.991	D	0.86991	0.2110	10	0.87932	D	0	.	12.8001	0.57580	0.0813:0.0:0.9187:0.0	.	88;79;83;80;80	B4DHW2;Q14938-5;F8W8H9;Q14938;Q14938-3	.;.;.;NFIX_HUMAN;.	L	80;80;83;33;79	ENSP00000380781:R80L;ENSP00000351354:R79L	ENSP00000264825:R83L	R	+	2	0	NFIX	12997046	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.808000	0.99193	1.219000	0.43474	0.655000	0.94253	CGC		0.657	NFIX-013	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000452763.1		NM_002501	
NOS1AP	9722	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	162324998	162324999	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:162324998_162324999insGG	ENST00000361897.5	+	7	1019_1020	c.617_618insGG	c.(616-621)gagaggfs	p.R207fs	NOS1AP_ENST00000530878.1_Frame_Shift_Ins_p.R202fs	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	207					regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			ACTGGAGCCGAGAGGGCCTCCA	0.554																																																	0																																										SO:0001589	frameshift_variant	9722			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	Exception_encountered	1.37:g.162324998_162324999insGG	ENSP00000355133:p.Arg207fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLF5|O43564|Q3T551|Q5VU95	Frame_Shift_Ins	INS	ENST00000361897.5	37	CCDS1237.1																																																																																				0.554	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2		NM_014697	
NOTCH3	4854	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15276831	15276831	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:15276831delC	ENST00000263388.2	-	30	5509	c.5434delG	c.(5434-5436)gagfs	p.E1812fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1812					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCATCTGCCTCATCCTCTTCA	0.587																																																	0													76.0	67.0	70.0					19																	15276831		2203	4300	6503	SO:0001589	frameshift_variant	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5434delG	19.37:g.15276831delC	ENSP00000263388:p.Glu1812fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Del	DEL	ENST00000263388.2	37	CCDS12326.1																																																																																				0.587	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1		NM_000435	
NUDT21	11051	hgsc.bcm.edu	37	16	56485075	56485076	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr16:56485075_56485076insC	ENST00000300291.5	-	1	211_212	c.39_40insG	c.(37-42)tggcccfs	p.P14fs	OGFOD1_ENST00000566157.1_5'Flank|OGFOD1_ENST00000568397.1_5'Flank	NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	14	Necessary for RNA-binding.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						ACCCCCCGGGGCCAGCCGGTCT	0.658																																																	0																																										SO:0001589	frameshift_variant	11051			AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"""Nudix motif containing"""	13870	protein-coding gene	gene with protein product	"""cleavage factor Im complex 25 kDa subunit"""	604978	"""cleavage and polyadenylation specific factor 5, 25 kDa"", ""cleavage and polyadenylation specific factor 5, 25 kD subunit"""	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.40dupG	16.37:g.56485077_56485077dupC	ENSP00000300291:p.Pro14fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IB85|Q6NE84	Frame_Shift_Ins	INS	ENST00000300291.5	37	CCDS10760.1																																																																																				0.658	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256980.3		NM_007006	
NXF4	55999	broad.mit.edu	37	X	101821152	101821152	+	RNA	DEL	A	A	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chrX:101821152delA	ENST00000360035.2	+	0	1352					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						CTGAGATAATAAAACCTTGTA	0.418																																																	0																																												55999			AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101821152delA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000360035.2	37																																																																																					0.418	NXF4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000095720.1			
OR5F1	338674	broad.mit.edu;hgsc.bcm.edu	37	11	55761854	55761854	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr11:55761854G>C	ENST00000278409.1	-	1	247	c.248C>G	c.(247-249)gCa>gGa	p.A83G		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	83					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A83G(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TAATAAATCTGCCAGCATCTT	0.458																																																	1	Substitution - Missense(1)	kidney(1)											62.0	61.0	61.0					11																	55761854		2201	4296	6497	SO:0001583	missense	338674			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.248C>G	11.37:g.55761854G>C	ENSP00000278409:p.Ala83Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	4.348	0.064029	0.08388	.	.	ENSG00000149133	ENST00000278409	T	0.00392	7.58	3.03	-3.98	0.04082	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00241	0.0007	L	0.42008	1.315	0.09310	N	1	P	0.34800	0.469	B	0.35550	0.205	T	0.23655	-1.0182	9	0.37606	T	0.19	.	6.7987	0.23738	0.1808:0.2911:0.5281:0.0	.	83	O95221	OR5F1_HUMAN	G	83	ENSP00000278409:A83G	ENSP00000278409:A83G	A	-	2	0	OR5F1	55518430	0.000000	0.05858	0.257000	0.24404	0.137000	0.21094	-4.247000	0.00266	-0.266000	0.09339	0.297000	0.19635	GCA		0.458	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1		NM_003697	
PANK3	79646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	167993043	167993044	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr5:167993043_167993044delTG	ENST00000239231.6	-	3	925_926	c.609_610delCA	c.(607-612)gacaacfs	p.DN203fs	PANK3_ENST00000520504.1_5'UTR	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	203					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		CGTTTATAGTTGTCTTTGGAAT	0.391																																																	0																																										SO:0001589	frameshift_variant	79646			AK022961	CCDS4368.1	5q35.1	2008-02-05			ENSG00000120137	ENSG00000120137			19365	protein-coding gene	gene with protein product		606161				11479594	Standard	NM_024594		Approved	FLJ12899	uc003lzz.2	Q9H999	OTTHUMG00000130410	ENST00000239231.6:c.609_610delCA	5.37:g.167993043_167993044delTG	ENSP00000239231:p.Asp203fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DQL1|Q53FJ9|Q7RTX4	Frame_Shift_Del	DEL	ENST00000239231.6	37	CCDS4368.1																																																																																				0.391	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2		NM_024594	
PBRM1	55193	broad.mit.edu;ucsc.edu	37	3	52598080	52598080	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr3:52598080T>G	ENST00000296302.7	-	23	3862	c.3861A>C	c.(3859-3861)gaA>gaC	p.E1287D	PBRM1_ENST00000337303.4_Missense_Mutation_p.E1287D|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000356770.4_Missense_Mutation_p.E1255D|PBRM1_ENST00000409114.3_Missense_Mutation_p.E1302D|PBRM1_ENST00000409767.1_Missense_Mutation_p.E1302D|PBRM1_ENST00000409057.1_Missense_Mutation_p.E1287D|PBRM1_ENST00000394830.3_Missense_Mutation_p.E1262D|PBRM1_ENST00000410007.1_Missense_Mutation_p.E1262D			Q86U86	PB1_HUMAN	polybromo 1	1287			E -> Q (found in a breast cancer cell line). {ECO:0000269|PubMed:21248752}.		chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E1287D(2)|p.E1255_I1256>V(1)|p.E1287_I1288>V(1)|p.E1255D(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGTAGTAAATTTCATCATCTA	0.353			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	5	Substitution - Missense(3)|Complex - deletion inframe(2)	kidney(5)											92.0	91.0	91.0					3																	52598080		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3861A>C	3.37:g.52598080T>G	ENSP00000296302:p.Glu1287Asp	Somatic		WXS	Illumina GAIIx	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	T	15.71	2.913645	0.52439	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	T;T;T;T;T;T;T;T;T	0.59083	0.3;0.86;0.29;0.31;0.3;0.83;0.75;0.33;0.32	5.32	1.71	0.24356	.	0.000000	0.85682	D	0.000000	T	0.68933	0.3055	M	0.69358	2.11	0.45502	D	0.998468	D;D;D;D;D;D;D;D	0.76494	0.996;0.99;0.994;0.99;0.999;0.999;0.996;0.99	D;D;D;D;D;D;D;D	0.79784	0.987;0.961;0.979;0.98;0.993;0.991;0.987;0.98	T	0.66630	-0.5875	10	0.87932	D	0	-15.2979	8.0676	0.30669	0.0:0.3004:0.0:0.6996	.	1262;1262;1287;1302;1302;1287;1255;1287	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	D	1255;1262;1287;1287;1287;1262;1302;1302;1286	ENSP00000349213:E1255D;ENSP00000378307:E1262D;ENSP00000296302:E1287D;ENSP00000338302:E1287D;ENSP00000386593:E1287D;ENSP00000386529:E1262D;ENSP00000386643:E1302D;ENSP00000386601:E1302D;ENSP00000387775:E1286D	ENSP00000296302:E1287D	E	-	3	2	PBRM1	52573120	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.794000	0.26958	0.063000	0.16370	0.533000	0.62120	GAA		0.353	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PDE10A	10846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	165844947	165844947	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr6:165844947T>C	ENST00000366882.1	-	9	831	c.677A>G	c.(676-678)aAt>aGt	p.N226S	PDE10A_ENST00000354448.4_Missense_Mutation_p.N226S|PDE10A_ENST00000539869.2_Missense_Mutation_p.N236S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	226	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.N226S(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CCAGGCAAGATTTGCTGTTGC	0.353																																					Esophageal Squamous(22;308 615 5753 12038 40624)												1	Substitution - Missense(1)	kidney(1)											108.0	111.0	110.0					6																	165844947		2203	4300	6503	SO:0001583	missense	10846			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.677A>G	6.37:g.165844947T>C	ENSP00000355847:p.Asn226Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37		.	.	.	.	.	.	.	.	.	.	T	11.96	1.795193	0.31777	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.66460	-0.21;-0.21	5.5	5.5	0.81552	GAF (2);	0.977239	0.08478	N	0.939988	T	0.65668	0.2713	L	0.44542	1.39	0.46131	D	0.99888	D;B	0.58620	0.983;0.068	P;B	0.54270	0.747;0.069	T	0.63422	-0.6641	10	0.59425	D	0.04	.	15.6089	0.76699	0.0:0.0:0.0:1.0	.	236;226	Q9ULW9;Q9Y233	.;PDE10_HUMAN	S	226;254;236;226;225	ENSP00000355847:N226S;ENSP00000346435:N226S	ENSP00000341187:N236S	N	-	2	0	PDE10A	165764937	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	5.843000	0.69424	2.082000	0.62665	0.528000	0.53228	AAT		0.353	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			
GAL3ST1	9514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30973095	30973095	+	5'Flank	SNP	G	G	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr22:30973095G>A	ENST00000406361.1	-	0	0				GAL3ST1_ENST00000402369.1_5'Flank|PES1_ENST00000402284.3_Missense_Mutation_p.R552W|PES1_ENST00000335214.6_Missense_Mutation_p.R564W|PES1_ENST00000405677.1_Missense_Mutation_p.R430W|PES1_ENST00000354694.7_Missense_Mutation_p.R569W|PES1_ENST00000402281.1_Missense_Mutation_p.R430W			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1						galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.R569W(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TGGGCTTTCCGCTTCTCCGCC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											61.0	51.0	54.0					22																	30973095		2203	4300	6503	SO:0001631	upstream_gene_variant	23481			D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200		22.37:g.30973095G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	Q96C63	Missense_Mutation	SNP	ENST00000406361.1	37	CCDS13879.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.31|19.31	3.802834|3.802834	0.70682|0.70682	.|.	.|.	ENSG00000100029|ENSG00000100029	ENST00000441668|ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	.|T;T;T;T;T	.|0.35973	.|1.33;1.28;1.28;1.28;1.31	5.31|5.31	3.07|3.07	0.35406|0.35406	.|.	.|0.056140	.|0.64402	.|D	.|0.000001	T|T	0.63757|0.63757	0.2538|0.2538	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.993;0.993;0.999;0.993	T|T	0.71777|0.71777	-0.4490|-0.4490	5|10	.|0.87932	.|D	.|0	-24.7536|-24.7536	12.6194|12.6194	0.56595|0.56595	0.0:0.0:0.5388:0.4612|0.0:0.0:0.5388:0.4612	.|.	.|569;552;564;569	.|B2RDF2;B5MCF9;O00541-2;O00541	.|.;.;.;PESC_HUMAN	V|W	174|569;430;430;552;564	.|ENSP00000346725:R569W;ENSP00000384366:R430W;ENSP00000385654:R430W;ENSP00000384252:R552W;ENSP00000334612:R564W	.|ENSP00000334612:R564W	A|R	-|-	2|1	0|2	PES1|PES1	29303095|29303095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.801000|0.801000	0.45260|0.45260	3.333000|3.333000	0.52090|0.52090	1.188000|1.188000	0.43014|0.43014	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.617	GAL3ST1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321744.1		NM_004861	
PM20D2	135293	broad.mit.edu;ucsc.edu	37	6	89871594	89871594	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr6:89871594T>A	ENST00000275072.4	+	6	1236	c.1141T>A	c.(1141-1143)Tac>Aac	p.Y381N		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	381						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Y381N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TACTGAACAGTACACTGAAGC	0.398																																																	1	Substitution - Missense(1)	kidney(1)											187.0	166.0	173.0					6																	89871594		2203	4300	6503	SO:0001583	missense	135293			BC035036	CCDS34499.1	6q15	2014-07-14	2007-11-14	2007-11-14	ENSG00000146281	ENSG00000146281			21408	protein-coding gene	gene with protein product	"""&#946;-alanyl-lysine dipeptidase"""	615913	"""aminoacylase 1-like 2"""	ACY1L2		24891507	Standard	NM_001010853		Approved	bA63L7.3	uc003pmz.4	Q8IYS1	OTTHUMG00000015193	ENST00000275072.4:c.1141T>A	6.37:g.89871594T>A	ENSP00000275072:p.Tyr381Asn	Somatic		WXS	Illumina GAIIx	Phase_I	B4DYJ2|Q5T7J9|Q6MZV2|Q86XD9	Missense_Mutation	SNP	ENST00000275072.4	37	CCDS34499.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.872767	0.72180	.	.	ENSG00000146281	ENST00000275072	T	0.45668	0.89	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	L	0.45228	1.405	0.58432	D	0.99999	D	0.76494	0.999	D	0.77557	0.99	T	0.52034	-0.8629	10	0.62326	D	0.03	-9.7894	14.9828	0.71324	0.0:0.0:0.0:1.0	.	381	Q8IYS1	P20D2_HUMAN	N	381	ENSP00000275072:Y381N	ENSP00000275072:Y381N	Y	+	1	0	PM20D2	89928313	1.000000	0.71417	0.375000	0.26029	0.726000	0.41606	7.274000	0.78538	2.139000	0.66308	0.454000	0.30748	TAC		0.398	PM20D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041477.1		NM_001010853	
PTCHD2	57540	broad.mit.edu;hgsc.bcm.edu	37	1	11579864	11579864	+	Silent	SNP	C	C	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:11579864C>T	ENST00000294484.6	+	9	2265	c.2127C>T	c.(2125-2127)ctC>ctT	p.L709L	PTCHD2_ENST00000389575.3_Silent_p.L709L	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	709					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.L926L(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCGGCCATCTCATCGTGCAGC	0.677																																																	1	Substitution - coding silent(1)	kidney(1)											53.0	65.0	61.0					1																	11579864		2098	4214	6312	SO:0001819	synonymous_variant	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2127C>T	1.37:g.11579864C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	CCDS41247.1																																																																																				0.677	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2		XM_052561	
RFPL2	10739	broad.mit.edu;hgsc.bcm.edu	37	22	32587136	32587136	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr22:32587136C>G	ENST00000400237.1	-	5	1695	c.760G>C	c.(760-762)Gac>Cac	p.D254H	RFPL2_ENST00000248980.4_Missense_Mutation_p.D193H|RFPL2_ENST00000248983.4_Missense_Mutation_p.D164H|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400236.3_Missense_Mutation_p.D164H			O75678	RFPL2_HUMAN	ret finger protein-like 2	254	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.D164H(1)|p.D254H(1)|p.D193H(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						ACTCCCAGGTCCCATTCTGTG	0.582																																																	3	Substitution - Missense(3)	kidney(3)											104.0	104.0	104.0					22																	32587136		2203	4300	6503	SO:0001583	missense	10739			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.760G>C	22.37:g.32587136C>G	ENSP00000383096:p.Asp254His	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000400237.1	37	CCDS43009.2	.	.	.	.	.	.	.	.	.	.	C	14.71	2.618144	0.46736	.	.	ENSG00000128253	ENST00000248980;ENST00000248983;ENST00000400236;ENST00000400237	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	0.311	0.311	0.15831	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.77538	0.4145	M	0.78344	2.41	0.28883	N	0.894274	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.973	T	0.66964	-0.5790	9	0.66056	D	0.02	.	6.4489	0.21892	0.0:0.9998:0.0:2.0E-4	.	254;193	O75678;O75678-3	RFPL2_HUMAN;.	H	193;164;164;254	ENSP00000248980:D193H;ENSP00000248983:D164H;ENSP00000383095:D164H;ENSP00000383096:D254H	ENSP00000248980:D193H	D	-	1	0	RFPL2	30917136	0.203000	0.23435	0.171000	0.22900	0.170000	0.22686	0.477000	0.22196	0.392000	0.25172	0.398000	0.26397	GAC		0.582	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2		NM_006605	
RGS3	5998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	116246492	116246492	+	Silent	SNP	T	T	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr9:116246492T>C	ENST00000374140.2	+	7	809	c.600T>C	c.(598-600)gcT>gcC	p.A200A	RGS3_ENST00000350696.5_Silent_p.A200A|RGS3_ENST00000317613.6_Silent_p.A88A	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	200	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.A96A(1)|p.A88A(1)|p.A200A(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGACCCGGCTTTCCACGAGC	0.478																																																	3	Substitution - coding silent(3)	kidney(3)											74.0	73.0	73.0					9																	116246492		2203	4300	6503	SO:0001819	synonymous_variant	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.600T>C	9.37:g.116246492T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Silent	SNP	ENST00000374140.2	37	CCDS43869.1																																																																																				0.478	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3		NM_017790	
RNASE12	493901	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21058840	21058840	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr14:21058840delC	ENST00000556526.1	-	1	142	c.43delG	c.(43-45)gaafs	p.E15fs	RNASE11_ENST00000398009.2_5'Flank|RNASE11_ENST00000432835.2_5'Flank|RNASE11_ENST00000553849.1_5'Flank|RNASE11_ENST00000555283.1_Frame_Shift_Del_p.E15fs|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000554993.1_RNA|RP11-14J7.6_ENST00000554006.1_RNA|RNASE11_ENST00000555841.1_5'Flank|RNASE11_ENST00000610205.1_5'Flank|RNASE11_ENST00000398008.2_5'Flank|RP11-14J7.6_ENST00000556487.1_RNA|RP11-14J7.6_ENST00000554529.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	15						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		ACCTCATTTTCCCAGAACAGA	0.428																																																	0													144.0	133.0	137.0					14																	21058840		2203	4300	6503	SO:0001589	frameshift_variant	493901				CCDS32037.1	14q11.1	2012-10-05			ENSG00000258436	ENSG00000258436		"""Ribonucleases, RNase A"""	24211	protein-coding gene	gene with protein product							Standard	NM_001024822		Approved		uc001vxt.3	Q5GAN4	OTTHUMG00000170991	ENST00000556526.1:c.43delG	14.37:g.21058840delC	ENSP00000450580:p.Glu15fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000556526.1	37	CCDS32037.1																																																																																				0.428	RNASE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411107.1			
ROPN1B	152015	hgsc.bcm.edu;ucsc.edu	37	3	125690967	125690967	+	Missense_Mutation	SNP	G	G	T	rs368481108		TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr3:125690967G>T	ENST00000514116.1	+	3	385	c.70G>T	c.(70-72)Gcc>Tcc	p.A24S	ROPN1B_ENST00000504401.1_Missense_Mutation_p.A24S|ROPN1B_ENST00000251776.4_Missense_Mutation_p.A24S|ROPN1B_ENST00000511862.1_3'UTR			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	24	RIIa.				acrosome reaction (GO:0007340)|cytokinesis (GO:0000910)|fusion of sperm to egg plasma membrane (GO:0007342)|Rho protein signal transduction (GO:0007266)|single organismal cell-cell adhesion (GO:0016337)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		GTTTGCCAAAGCCGCCATTCG	0.572																																																	0													43.0	49.0	47.0					3																	125690967		2203	4300	6503	SO:0001583	missense	152015			AF231410	CCDS33841.1	3q21.2	2011-01-20	2011-01-20		ENSG00000114547	ENSG00000114547			31927	protein-coding gene	gene with protein product			"""ropporin, rhophilin associated protein 1B"""				Standard	XM_005247137		Approved		uc003eih.3	Q9BZX4	OTTHUMG00000162651	ENST00000514116.1:c.70G>T	3.37:g.125690967G>T	ENSP00000426271:p.Ala24Ser	Somatic		WXS	Illumina HiSeq	Phase_I	D3DNA6|Q96BM7	Missense_Mutation	SNP	ENST00000514116.1	37	CCDS33841.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791125	0.31685	.	.	ENSG00000114547	ENST00000514116;ENST00000251776;ENST00000504401;ENST00000513830;ENST00000508088;ENST00000509879	T;T;T;T	0.77877	1.78;1.78;-1.13;-1.13	3.37	3.37	0.38596	cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (1);	0.389665	0.23063	N	0.052358	T	0.76111	0.3942	M	0.79926	2.475	0.80722	D	1	B;P	0.37330	0.426;0.59	B;B	0.35278	0.187;0.199	T	0.78856	-0.2039	10	0.56958	D	0.05	-9.53	10.5983	0.45352	0.0:0.0:1.0:0.0	.	24;24	B7Z7H1;Q9BZX4	.;ROP1B_HUMAN	S	24	ENSP00000426271:A24S;ENSP00000251776:A24S;ENSP00000425548:A24S;ENSP00000423058:A24S	ENSP00000251776:A24S	A	+	1	0	ROPN1B	127173657	1.000000	0.71417	1.000000	0.80357	0.114000	0.19823	3.987000	0.56944	1.578000	0.49821	0.305000	0.20034	GCC		0.572	ROPN1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369931.1		NM_001012337	
RPF2	84154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	111346663	111346663	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr6:111346663C>T	ENST00000441448.2	+	10	891	c.799C>T	c.(799-801)Cat>Tat	p.H267Y		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	267						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.H267Y(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TGGAAGGATTCATATGCAGAA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											84.0	88.0	87.0					6																	111346663		2203	4300	6503	SO:0001583	missense	84154			AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.799C>T	6.37:g.111346663C>T	ENSP00000402338:p.His267Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VXN1|Q8N4A1	Missense_Mutation	SNP	ENST00000441448.2	37	CCDS5088.1	.	.	.	.	.	.	.	.	.	.	c	29.3	4.997024	0.93167	.	.	ENSG00000197498	ENST00000441448	T	0.73469	-0.75	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.82848	0.5126	M	0.67569	2.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78521	-0.2172	10	0.32370	T	0.25	-22.562	20.0693	0.97712	0.0:1.0:0.0:0.0	.	267;267	A8K800;Q9H7B2	.;RPF2_HUMAN	Y	267	ENSP00000402338:H267Y	ENSP00000402338:H267Y	H	+	1	0	RPF2	111453356	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.256000	0.78350	2.758000	0.94735	0.563000	0.77884	CAT		0.363	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2		NM_032194	
RYR2	6262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	237664189	237664189	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:237664189C>G	ENST00000366574.2	+	21	2699	c.2382C>G	c.(2380-2382)ttC>ttG	p.F794L	RYR2_ENST00000360064.6_Missense_Mutation_p.F792L|RYR2_ENST00000542537.1_Missense_Mutation_p.F778L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	794	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.F792L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCGTTAGTTTCTCTGCAGGAA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											211.0	190.0	196.0					1																	237664189		1891	4106	5997	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2382C>G	1.37:g.237664189C>G	ENSP00000355533:p.Phe794Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776649	0.49786	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.61859	0.07;0.07;0.07	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000002	T	0.61615	0.2361	L	0.28115	0.83	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.53940	-0.8367	10	0.16896	T	0.51	.	13.6254	0.62161	0.0:0.9297:0.0:0.0702	.	794	Q92736	RYR2_HUMAN	L	794;792;778	ENSP00000355533:F794L;ENSP00000353174:F792L;ENSP00000443798:F778L	ENSP00000353174:F792L	F	+	3	2	RYR2	235730812	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.675000	0.46875	2.835000	0.97688	0.650000	0.86243	TTC		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035	
SDK1	221935	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	4152925	4152925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr7:4152925C>T	ENST00000404826.2	+	24	3578	c.3439C>T	c.(3439-3441)Cga>Tga	p.R1147*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.R1147*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1147	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.R1147*(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTTTAGATTTCGAATGAAGCA	0.537																																																	1	Substitution - Nonsense(1)	kidney(1)											209.0	221.0	217.0					7																	4152925		2203	4300	6503	SO:0001587	stop_gained	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3439C>T	7.37:g.4152925C>T	ENSP00000385899:p.Arg1147*	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TEN9|Q8TEP5|Q96N44	Nonsense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	43	10.362544	0.99391	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	.	.	.	5.22	4.25	0.50352	.	0.000000	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.703	0.77555	0.2066:0.7934:0.0:0.0	.	.	.	.	X	1147	.	ENSP00000374182:R1147X	R	+	1	2	SDK1	4119451	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	3.566000	0.53805	2.437000	0.82529	0.655000	0.94253	CGA		0.537	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1		NM_152744	
SETD2	29072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	47098903	47098903	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr3:47098903A>T	ENST00000409792.3	-	15	6413	c.6371T>A	c.(6370-6372)tTg>tAg	p.L2124*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2124					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.L1621*(1)|p.L2124*(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)		TTGCTCAAACAACTTCCGGCG	0.428			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	2	Substitution - Nonsense(2)	kidney(2)											98.0	96.0	97.0					3																	47098903		2203	4300	6503	SO:0001587	stop_gained	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.6371T>A	3.37:g.47098903A>T	ENSP00000386759:p.Leu2124*	Somatic		WXS	Illumina HiSeq	Phase_I	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	46	12.877541	0.99703	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	4.98	4.98	0.66077	.	0.000000	0.46145	D	0.000304	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.118	0.72419	1.0:0.0:0.0:0.0	.	.	.	.	X	2124	.	ENSP00000386759:L2124X	L	-	2	0	SETD2	47073907	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.675000	0.91195	2.224000	0.72417	0.533000	0.62120	TTG		0.428	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SHC3	53358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	91680466	91680466	+	Silent	SNP	A	A	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr9:91680466A>C	ENST00000375835.4	-	6	1119	c.813T>G	c.(811-813)gcT>gcG	p.A271A	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	271	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.			A -> T (in Ref. 4; AAH26314). {ECO:0000305}.	central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)	p.T271T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CAGGGTCCTTAGCCACATATG	0.453																																																	1	Substitution - coding silent(1)	kidney(1)											249.0	244.0	245.0					9																	91680466		2203	4300	6503	SO:0001819	synonymous_variant	53358			D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.813T>G	9.37:g.91680466A>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T7I7|Q8TAP2|Q9UCX5	Silent	SNP	ENST00000375835.4	37	CCDS6681.1																																																																																				0.453	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1		NM_016848	
SLFN12L	100506736	broad.mit.edu;hgsc.bcm.edu	37	17	33802320	33802320	+	Silent	SNP	A	A	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr17:33802320A>G	ENST00000260908.7	-	4	1506	c.1389T>C	c.(1387-1389)gcT>gcC	p.A463A	SLFN12L_ENST00000449046.1_Silent_p.A494A|SLFN12L_ENST00000361112.4_Silent_p.A492A|RP11-686D22.9_ENST00000587076.1_RNA	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	463						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)	p.A494A(2)|p.A492A(1)		breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						AAATCAGAAGAGCATCACAGA	0.458																																																	3	Substitution - coding silent(3)	kidney(3)											107.0	87.0	93.0					17																	33802320		692	1591	2283	SO:0001819	synonymous_variant	100506736			AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.1389T>C	17.37:g.33802320A>G		Somatic		WXS	Illumina HiSeq	Phase_I	F5H6G3	Silent	SNP	ENST00000260908.7	37	CCDS56026.1																																																																																				0.458	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395748.2		XM_496206	
SNRPN	6638	broad.mit.edu;hgsc.bcm.edu	37	15	25222145	25222145	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr15:25222145C>G	ENST00000400100.1	+	10	1279	c.389C>G	c.(388-390)cCt>cGt	p.P130R	SNRPN_ENST00000390687.4_Missense_Mutation_p.P130R|SNHG14_ENST00000551631.2_RNA|SNRPN_ENST00000400098.1_Missense_Mutation_p.P130R|SNRPN_ENST00000444203.2_Missense_Mutation_p.P134R|SNRPN_ENST00000400097.1_Missense_Mutation_p.P130R|SNRPN_ENST00000554227.2_Missense_Mutation_p.P134R|SNRPN_ENST00000346403.6_Missense_Mutation_p.P130R|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000577565.1_Missense_Mutation_p.P130R|SNURF_ENST00000551312.2_Intron	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	130					response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)	p.P130R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TTGGCAGGCCCTGTCCGAGGA	0.582									Prader-Willi syndrome																																								1	Substitution - Missense(1)	kidney(1)											41.0	44.0	43.0					15																	25222145		1852	4093	5945	SO:0001583	missense	6638	Familial Cancer Database	Prader-Labhart-Willi syndrome	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.389C>G	15.37:g.25222145C>G	ENSP00000382972:p.Pro130Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018398	0.75275	.	.	ENSG00000128739	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	3.78	3.78	0.43462	.	0.118990	0.64402	D	0.000018	T	0.67011	0.2848	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.981	T	0.74337	-0.3698	10	0.87932	D	0	-4.5506	13.9245	0.63955	0.0:1.0:0.0:0.0	.	134;130	B3KVR1;P63162	.;RSMN_HUMAN	R	130;130;130;134;130;134	ENSP00000382972:P130R;ENSP00000382970:P130R;ENSP00000382969:P130R;ENSP00000452342:P134R;ENSP00000375105:P130R;ENSP00000408767:P134R	ENSP00000375105:P130R	P	+	2	0	SNRPN	22773238	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	6.271000	0.72569	2.401000	0.81631	0.655000	0.94253	CCT		0.582	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10		NM_003097	
ST14	6768	hgsc.bcm.edu;ucsc.edu	37	11	130069949	130069949	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr11:130069949delG	ENST00000278742.5	+	16	2329	c.1911delG	c.(1909-1911)cagfs	p.Q637fs		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	637	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CTCTGGGCCAGGGCCACATCT	0.627																																																	0													74.0	63.0	67.0					11																	130069949		2201	4297	6498	SO:0001589	frameshift_variant	6768			AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.1911delG	11.37:g.130069949delG	ENSP00000278742:p.Gln637fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Frame_Shift_Del	DEL	ENST00000278742.5	37	CCDS8487.1																																																																																				0.627	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1			
SUV39H2	79723	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	14941580	14941580	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr10:14941580G>A	ENST00000354919.6	+	4	892	c.892G>A	c.(892-894)Gac>Aac	p.D298N	DCLRE1C_ENST00000378289.4_Intron|SUV39H2_ENST00000313519.5_Missense_Mutation_p.D238N|SUV39H2_ENST00000378325.3_Missense_Mutation_p.D118N	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	298	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.D298N(1)|p.D238N(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						ACAGTTCTATGACAACAAGGG	0.398																																																	2	Substitution - Missense(2)	kidney(2)											190.0	160.0	170.0					10																	14941580		2203	4300	6503	SO:0001583	missense	79723			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.892G>A	10.37:g.14941580G>A	ENSP00000346997:p.Asp298Asn	Somatic		WXS	Illumina HiSeq	Phase_I	D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	CCDS53494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.438803|5.438803	0.96168|0.96168	.|.	.|.	ENSG00000152455|ENSG00000152455	ENST00000433779;ENST00000378325;ENST00000354919;ENST00000313519|ENST00000358298	D;T;D;D|.	0.90261|.	-2.64;-1.47;-2.64;-2.64|.	5.62|5.62	5.62|5.62	0.85841|0.85841	SET domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75095|0.75095	0.3803|0.3803	M|M	0.67517|0.67517	2.055|2.055	0.80722|0.80722	D|D	1|1	P;B|.	0.36974|.	0.576;0.098|.	B;B|.	0.43301|.	0.415;0.074|.	T|T	0.72391|0.72391	-0.4308|-0.4308	10|5	0.56958|.	D|.	0.05|.	.|.	19.0078|19.0078	0.92859|0.92859	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	298;118|.	Q9H5I1;Q9H5I1-3|.	SUV92_HUMAN;.|.	N|I	58;118;298;238|63	ENSP00000388968:D58N;ENSP00000367576:D118N;ENSP00000346997:D298N;ENSP00000319208:D238N|.	ENSP00000319208:D238N|.	D|M	+|+	1|3	0|0	SUV39H2|SUV39H2	14981586|14981586	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	9.813000|9.813000	0.99286|0.99286	2.809000|2.809000	0.96659|0.96659	0.557000|0.557000	0.71058|0.71058	GAC|ATG		0.398	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2		NM_024670	
SUV39H2	79723	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	14941582	14941582	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr10:14941582C>A	ENST00000354919.6	+	4	894	c.894C>A	c.(892-894)gaC>gaA	p.D298E	DCLRE1C_ENST00000378289.4_Intron|SUV39H2_ENST00000313519.5_Missense_Mutation_p.D238E|SUV39H2_ENST00000378325.3_Missense_Mutation_p.D118E	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	298	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.D238E(1)|p.D298E(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AGTTCTATGACAACAAGGGAA	0.398																																																	2	Substitution - Missense(2)	kidney(2)											190.0	160.0	170.0					10																	14941582		2203	4300	6503	SO:0001583	missense	79723			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.894C>A	10.37:g.14941582C>A	ENSP00000346997:p.Asp298Glu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	CCDS53494.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.320726|4.320726	0.81469|0.81469	.|.	.|.	ENSG00000152455|ENSG00000152455	ENST00000433779;ENST00000378325;ENST00000354919;ENST00000313519|ENST00000358298	D;T;D;D|.	0.90197|.	-2.63;-1.45;-2.63;-2.63|.	5.62|5.62	3.74|3.74	0.42951|0.42951	SET domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58935|0.58935	0.2157|0.2157	L|L	0.46614|0.46614	1.455|1.455	0.80722|0.80722	D|D	1|1	B;B|.	0.29716|.	0.255;0.027|.	B;B|.	0.39068|.	0.289;0.026|.	T|T	0.56372|0.56372	-0.7990|-0.7990	10|5	0.52906|.	T|.	0.07|.	.|.	12.309|12.309	0.54918|0.54918	0.0:0.8548:0.0:0.1452|0.0:0.8548:0.0:0.1452	.|.	298;118|.	Q9H5I1;Q9H5I1-3|.	SUV92_HUMAN;.|.	E|K	58;118;298;238|64	ENSP00000388968:D58E;ENSP00000367576:D118E;ENSP00000346997:D298E;ENSP00000319208:D238E|.	ENSP00000319208:D238E|.	D|T	+|+	3|2	2|0	SUV39H2|SUV39H2	14981588|14981588	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	1.219000|1.219000	0.32479|0.32479	1.514000|1.514000	0.48869|0.48869	0.557000|0.557000	0.71058|0.71058	GAC|ACA		0.398	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2		NM_024670	
TCERG1	10915	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	145843272	145843272	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr5:145843272C>T	ENST00000296702.5	+	5	1089	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S	TCERG1_ENST00000394421.2_Missense_Mutation_p.P351S	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	351	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.P351S(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTACCTCAGCCAACAACAGC	0.512																																																	1	Substitution - Missense(1)	kidney(1)											280.0	232.0	248.0					5																	145843272		2203	4300	6503	SO:0001583	missense	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1051C>T	5.37:g.145843272C>T	ENSP00000296702:p.Pro351Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q2NKN2|Q59EA1	Missense_Mutation	SNP	ENST00000296702.5	37	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542617	0.85917	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.26660	1.86;1.72	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	L	0.43923	1.385	0.58432	D	0.999997	D;D;D	0.67145	0.993;0.996;0.993	D;D;D	0.75484	0.968;0.986;0.968	T	0.21415	-1.0246	10	0.44086	T	0.13	-11.7197	19.1351	0.93424	0.0:1.0:0.0:0.0	.	351;351;351	B7Z921;O14776-2;O14776	.;.;TCRG1_HUMAN	S	351	ENSP00000296702:P351S;ENSP00000377943:P351S	ENSP00000296702:P351S	P	+	1	0	TCERG1	145823465	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.876000	0.63079	2.506000	0.84524	0.563000	0.77884	CCA		0.512	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1		NM_001040006	
TCF12	6938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	57565458	57565458	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr15:57565458G>T	ENST00000267811.5	+	18	2208	c.1904G>T	c.(1903-1905)aGa>aTa	p.R635I	TCF12_ENST00000559710.1_Missense_Mutation_p.R269I|TCF12_ENST00000537840.1_Missense_Mutation_p.R399I|TCF12_ENST00000333725.5_Missense_Mutation_p.R659I|TCF12_ENST00000559703.1_Missense_Mutation_p.R292I|TCF12_ENST00000343827.3_Missense_Mutation_p.R465I|TCF12_ENST00000543579.1_Missense_Mutation_p.R489I|TCF12_ENST00000438423.2_Missense_Mutation_p.R659I|TCF12_ENST00000452095.2_Missense_Mutation_p.R655I|TCF12_ENST00000557843.1_Missense_Mutation_p.R635I	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	635	Class A specific domain.				immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.R659I(2)|p.R655I(1)|p.R465I(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CAGCAAGTCAGAGGTAAGTAG	0.423			T	TEC	extraskeletal myxoid chondrosarcoma																																			Dom	yes		15	15q21	6938	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""		M	4	Substitution - Missense(4)	kidney(4)											77.0	70.0	73.0					15																	57565458		2192	4292	6484	SO:0001583	missense	6938			BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1904G>T	15.37:g.57565458G>T	ENSP00000267811:p.Arg635Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	G	32	5.190281	0.94923	.	.	ENSG00000140262	ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	D;D;D;D;D;D;D	0.97731	-4.51;-4.51;-4.51;-4.51;-4.51;-4.51;-4.51	4.82	4.82	0.62117	Helix-loop-helix DNA-binding (3);	0.000000	0.85682	D	0.000000	D	0.98573	0.9523	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.99;0.998;1.0;0.997;0.999;0.997;0.995;0.997	D;D;D;D;D;D;D;D	0.91635	0.962;0.993;0.999;0.981;0.997;0.994;0.979;0.991	D	0.99859	1.1081	10	0.87932	D	0	-5.5378	18.2463	0.89986	0.0:0.0:1.0:0.0	.	269;489;399;655;489;465;635;659	B4DZP2;B4DH96;B4E1W1;E9PGY0;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;HTF4_HUMAN;.	I	635;659;655;659;489;399;465;247	ENSP00000267811:R635I;ENSP00000388940:R659I;ENSP00000396881:R655I;ENSP00000331057:R659I;ENSP00000440017:R489I;ENSP00000444696:R399I;ENSP00000342459:R465I	ENSP00000267811:R635I	R	+	2	0	TCF12	55352750	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.683000	0.98657	2.386000	0.81285	0.655000	0.94253	AGA		0.423	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3		NM_003205	
TDRD10	126668	hgsc.bcm.edu	37	1	154514536	154514537	+	Frame_Shift_Ins	INS	-	-	C	rs141077016		TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:154514536_154514537insC	ENST00000368480.3	+	7	491_492	c.406_407insC	c.(406-408)accfs	p.T136fs	TDRD10_ENST00000368482.4_Frame_Shift_Ins_p.T136fs|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	136							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATTTGGCAAAACCGCCGGTGAG	0.505																																																	0																																										SO:0001589	frameshift_variant	126668			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.408dupC	1.37:g.154514538_154514538dupC	ENSP00000357465:p.Thr136fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Frame_Shift_Ins	INS	ENST00000368480.3	37	CCDS41406.1																																																																																				0.505	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2		NM_182499	
TECPR1	25851	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	97851019	97851019	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr7:97851019C>G	ENST00000447648.2	-	23	3410	c.3111G>C	c.(3109-3111)aaG>aaC	p.K1037N	TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000379795.3_Missense_Mutation_p.K1039N			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1037					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.K1038N(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGGACACCTGCTTCAGCCTCT	0.567																																																	1	Substitution - Missense(1)	kidney(1)											46.0	52.0	50.0					7																	97851019		2125	4263	6388	SO:0001583	missense	25851				CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.3111G>C	7.37:g.97851019C>G	ENSP00000404923:p.Lys1037Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	c	10.08	1.253419	0.22965	.	.	ENSG00000205356	ENST00000447648;ENST00000379795	D;D	0.81908	-1.55;-1.55	4.54	-0.814	0.10846	.	0.299613	0.35436	N	0.003209	T	0.78278	0.4258	M	0.86864	2.845	0.80722	D	1	P	0.44946	0.846	B	0.36289	0.221	T	0.69881	-0.5025	10	0.33940	T	0.23	-5.819	6.22	0.20675	0.0:0.4941:0.121:0.3849	.	1037	Q7Z6L1	TCPR1_HUMAN	N	1037;1039	ENSP00000404923:K1037N;ENSP00000369121:K1039N	ENSP00000369121:K1039N	K	-	3	2	TECPR1	97688955	0.603000	0.26924	0.020000	0.16555	0.215000	0.24574	-0.078000	0.11375	-0.568000	0.06038	-0.265000	0.10407	AAG		0.567	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1		NM_015395	
TESK1	7016	broad.mit.edu;hgsc.bcm.edu	37	9	35608911	35608911	+	Silent	SNP	G	G	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr9:35608911G>C	ENST00000336395.5	+	10	1303	c.1053G>C	c.(1051-1053)cgG>cgC	p.R351R	MIR4667_ENST00000578933.1_RNA|CD72_ENST00000490239.1_5'Flank|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	351					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R351R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGATCCCCGGCTTTCCCGAA	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											64.0	73.0	70.0					9																	35608911		2203	4300	6503	SO:0001819	synonymous_variant	7016			D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1053G>C	9.37:g.35608911G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IXZ8	Silent	SNP	ENST00000336395.5	37	CCDS6580.1																																																																																				0.582	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1		NM_006285	
THEM5	284486	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151824751	151824751	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:151824751C>A	ENST00000368817.5	-	2	439	c.308G>T	c.(307-309)gGa>gTa	p.G103V	AL450992.2_ENST00000434182.1_RNA	NM_182578.3	NP_872384	Q8N1Q8	ACO15_HUMAN	thioesterase superfamily member 5	103					cardiolipin acyl-chain remodeling (GO:0035965)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)	mitochondrial matrix (GO:0005759)	palmitoyl-CoA hydrolase activity (GO:0016290)	p.G103V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AACTGCCAGTCCAGATGGGAG	0.532																																																	1	Substitution - Missense(1)	kidney(1)											123.0	105.0	112.0					1																	151824751		2203	4300	6503	SO:0001583	missense	284486			AK095283	CCDS1005.1	1q21.3	2008-02-05			ENSG00000196407	ENSG00000196407			26755	protein-coding gene	gene with protein product		615653					Standard	NM_182578		Approved	FLJ37964	uc021oyw.1	Q8N1Q8	OTTHUMG00000013070	ENST00000368817.5:c.308G>T	1.37:g.151824751C>A	ENSP00000357807:p.Gly103Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T1C3	Missense_Mutation	SNP	ENST00000368817.5	37	CCDS1005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.10|11.10	1.538231|1.538231	0.27475|0.27475	.|.	.|.	ENSG00000196407|ENSG00000196407	ENST00000453881|ENST00000368817	.|T	.|0.21734	.|1.99	4.75|4.75	-1.99|-1.99	0.07457|0.07457	.|.	.|0.868802	.|0.09818	.|N	.|0.751854	T|T	0.05593|0.05593	0.0147|0.0147	L|L	0.57536|0.57536	1.79|1.79	0.19945|0.19945	N|N	0.999941|0.999941	.|B	.|0.25772	.|0.134	.|B	.|0.20577	.|0.03	T|T	0.38134|0.38134	-0.9675|-0.9675	5|10	.|0.44086	.|T	.|0.13	-0.1297|-0.1297	1.1941|1.1941	0.01871|0.01871	0.1399:0.3317:0.2734:0.255|0.1399:0.3317:0.2734:0.255	.|.	.|103	.|Q8N1Q8	.|THEM5_HUMAN	Y|V	50|103	.|ENSP00000357807:G103V	.|ENSP00000357807:G103V	D|G	-|-	1|2	0|0	THEM5|THEM5	150091375|150091375	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.380000|-0.380000	0.07427|0.07427	-0.270000|-0.270000	0.09285|0.09285	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.532	THEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036678.2		NM_182578	
TREX1	11277	broad.mit.edu;hgsc.bcm.edu	37	3	48508682	48508682	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr3:48508682T>C	ENST00000422277.2	+	1	1454	c.793T>C	c.(793-795)Tgg>Cgg	p.W265R	TREX1_ENST00000433541.1_Missense_Mutation_p.W71R|TREX1_ENST00000296443.9_Missense_Mutation_p.W210R|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000436480.2_Missense_Mutation_p.W210R|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000444177.1_Missense_Mutation_p.W200R|TREX1_ENST00000456089.1_Missense_Mutation_p.W71R	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	265					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)	p.W265R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CATCTGTCAGTGGAGACCACA	0.627																																																	1	Substitution - Missense(1)	kidney(1)	GRCh37	CI075706	TREX1	I	rs78948846						72.0	61.0	64.0					3																	48508682		2203	4300	6503	SO:0001583	missense	11277			AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.793T>C	3.37:g.48508682T>C	ENSP00000390478:p.Trp265Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Missense_Mutation	SNP	ENST00000422277.2	37	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.894224	0.52121	.	.	ENSG00000213689	ENST00000296443;ENST00000433541;ENST00000436480;ENST00000422277;ENST00000444177;ENST00000456089	D;D;D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51;-3.51;-3.51	5.24	4.03	0.46877	Ribonuclease H-like (1);	0.728399	0.11696	U	0.538389	D	0.96112	0.8733	M	0.65975	2.015	0.29868	N	0.827082	D	0.76494	0.999	D	0.72625	0.978	D	0.91325	0.5085	10	0.25106	T	0.35	.	11.4474	0.50131	0.0:0.0:0.1608:0.8392	.	265	Q9NSU2	TREX1_HUMAN	R	210;71;210;265;200;71	ENSP00000296443:W210R;ENSP00000412404:W71R;ENSP00000392569:W210R;ENSP00000390478:W265R;ENSP00000415972:W200R;ENSP00000411331:W71R	ENSP00000296443:W210R	W	+	1	0	TREX1	48483686	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	0.699000	0.25586	1.967000	0.57214	0.459000	0.35465	TGG		0.627	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_016381	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179631234	179631234	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr2:179631234G>A	ENST00000591111.1	-	41	9801	c.9577C>T	c.(9577-9579)Cga>Tga	p.R3193*	TTN_ENST00000589042.1_Nonsense_Mutation_p.R3193*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R3147*|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R3147*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R3147*|TTN_ENST00000360870.5_Nonsense_Mutation_p.R3193*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R3193*|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13523					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R3147*(6)|p.R3193*(5)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTGTGTCGTTCTTGAACT	0.423																																																	11	Substitution - Nonsense(11)	kidney(6)|large_intestine(5)											158.0	144.0	149.0					2																	179631234		2203	4300	6503	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9577C>T	2.37:g.179631234G>A	ENSP00000465570:p.Arg3193*	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	50	17.231516	0.99882	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.7	0.593	0.17478	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6254	0.91336	0.0:0.0:0.226:0.774	.	.	.	.	X	3193;3147;3147;3147;3147;3193	.	ENSP00000340554:R3147X	R	-	1	2	TTN	179339479	0.965000	0.33210	0.977000	0.42913	0.514000	0.34195	0.588000	0.23924	-0.172000	0.10779	-2.591000	0.00164	CGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UBE2H	7328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	129479130	129479130	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr7:129479130T>A	ENST00000355621.3	-	6	737	c.344A>T	c.(343-345)tAt>tTt	p.Y115F	UBE2H_ENST00000473814.2_Missense_Mutation_p.Y84F	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	115					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.Y115F(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					GGGGTTAGGATAGGCCAATAA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											145.0	130.0	135.0					7																	129479130		2203	4300	6503	SO:0001583	missense	7328			BC006277	CCDS5814.1, CCDS47710.1	7q32	2012-07-20	2011-05-19		ENSG00000186591	ENSG00000186591	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12484	protein-coding gene	gene with protein product	"""GID complex subunit 3, UBC8 homolog (S. cerevisiae)"""	601082	"""ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8)"", ""ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)"""			8132613	Standard	NM_003344		Approved	UBCH, UBC8, GID3	uc003vpf.2	P62256	OTTHUMG00000157650	ENST00000355621.3:c.344A>T	7.37:g.129479130T>A	ENSP00000347836:p.Tyr115Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1L6|C9JY93|P37286|Q7Z6F4	Missense_Mutation	SNP	ENST00000355621.3	37	CCDS5814.1	.	.	.	.	.	.	.	.	.	.	T	29.4	5.000208	0.93227	.	.	ENSG00000186591	ENST00000355621;ENST00000473814;ENST00000496698	T;T;T	0.74209	1.2;-0.82;1.2	5.38	5.38	0.77491	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.87180	0.6113	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.997	D	0.89201	0.3557	10	0.72032	D	0.01	-20.7221	14.5743	0.68235	0.0:0.0:0.0:1.0	.	84;115	A4D1L6;P62256	.;UBE2H_HUMAN	F	115;84;82	ENSP00000347836:Y115F;ENSP00000419097:Y84F;ENSP00000417681:Y82F	ENSP00000347836:Y115F	Y	-	2	0	UBE2H	129266366	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.662000	0.83803	2.052000	0.61016	0.334000	0.21626	TAT		0.423	UBE2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349327.2		NM_003344	
UNC13D	201294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	73832900	73832900	+	Silent	SNP	A	A	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr17:73832900A>T	ENST00000207549.4	-	13	1534	c.1155T>A	c.(1153-1155)ggT>ggA	p.G385G	UNC13D_ENST00000412096.2_Silent_p.G385G	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	385	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)		p.G385G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTTGAGCCGACCCTGGATCC	0.652									Familial Hemophagocytic Lymphohistiocytosis																																								1	Substitution - coding silent(1)	kidney(1)											171.0	169.0	170.0					17																	73832900		2203	4300	6503	SO:0001819	synonymous_variant	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1155T>A	17.37:g.73832900A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DWG9|Q9H7K5	Silent	SNP	ENST00000207549.4	37	CCDS11730.1																																																																																				0.652	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2		XM_113950	
NUP210P1	255330	broad.mit.edu	37	3	126386192	126386192	+	RNA	SNP	G	G	A			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr3:126386192G>A	ENST00000357061.3	+	0	643					NR_034158.1				nucleoporin 210kDa pseudogene 1									p.?(1)									GCATCACAAGGTAGGTAACCA	0.622																																																	1	Unknown(1)	kidney(1)																																										0			BC042038		3q21.2	2011-08-16	2011-08-16	2011-08-16	ENSG00000198284	ENSG00000198284			27399	pseudogene	pseudogene			"""chromosome 3 open reading frame 46"""	C3orf46			Standard	NR_034158		Approved		uc003eje.1		OTTHUMG00000159577		3.37:g.126386192G>A		Somatic		WXS	Illumina GAIIx	Phase_I		Splice_Site	SNP	ENST00000357061.3	37																																																																																					0.622	NUP210P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356320.1		NR_034158	
YTHDC1	91746	broad.mit.edu;ucsc.edu	37	4	69203460	69203460	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr4:69203460T>G	ENST00000344157.4	-	3	624	c.289A>C	c.(289-291)Aat>Cat	p.N97H	YTHDC1_ENST00000355665.3_Missense_Mutation_p.N97H|YTHDC1_ENST00000579690.1_Missense_Mutation_p.N97H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	97					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N97H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TATTCCTCATTTTTATACTCT	0.378																																																	1	Substitution - Missense(1)	kidney(1)											168.0	162.0	164.0					4																	69203460		2203	4300	6503	SO:0001583	missense	91746			AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.289A>C	4.37:g.69203460T>G	ENSP00000339245:p.Asn97His	Somatic		WXS	Illumina GAIIx	Phase_I	Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.414063	0.42817	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.29917	1.96;1.55	5.57	4.4	0.53042	.	0.434879	0.26485	N	0.024118	T	0.33265	0.0857	N	0.19112	0.55	0.30741	N	0.74615	D;P	0.59767	0.986;0.679	D;B	0.67900	0.954;0.188	T	0.20538	-1.0272	10	0.52906	T	0.07	.	6.2371	0.20768	0.1425:0.0747:0.0:0.7828	.	97;97	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	H	97	ENSP00000339245:N97H;ENSP00000347888:N97H	ENSP00000339245:N97H	N	-	1	0	YTHDC1	68886055	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.121000	0.50438	2.099000	0.63709	0.477000	0.44152	AAT		0.378	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1		NM_133370	
ZBTB40	9923	broad.mit.edu;ucsc.edu	37	1	22843894	22843894	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr1:22843894A>G	ENST00000375647.4	+	13	2977	c.2770A>G	c.(2770-2772)Aga>Gga	p.R924G	ZBTB40_ENST00000404138.1_Missense_Mutation_p.R924G|ZBTB40_ENST00000374651.4_Missense_Mutation_p.R812G|ZBTB40-IT1_ENST00000438551.1_RNA	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	924					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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.R924G(1)		endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CTATGTCTGCAGAGACTGTGG	0.547																																																	1	Substitution - Missense(1)	kidney(1)											98.0	86.0	90.0					1																	22843894		2203	4300	6503	SO:0001583	missense	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2770A>G	1.37:g.22843894A>G	ENSP00000364798:p.Arg924Gly	Somatic		WXS	Illumina GAIIx	Phase_I	O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	CCDS224.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.886524	0.33348	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.14766	2.48;2.48;2.48	5.79	3.5	0.40072	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000028	T	0.18045	0.0433	N	0.11870	0.19	0.51767	D	0.999938	D;D	0.76494	0.997;0.999	P;D	0.68943	0.844;0.961	T	0.06215	-1.0839	10	0.66056	D	0.02	-21.8358	11.6584	0.51332	0.4709:0.5291:0.0:0.0	.	812;924	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	G	924;924;812	ENSP00000384527:R924G;ENSP00000364798:R924G;ENSP00000363782:R812G	ENSP00000363782:R812G	R	+	1	2	ZBTB40	22716481	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	1.102000	0.31050	0.998000	0.38996	0.533000	0.62120	AGA		0.547	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1		NM_014870	
ZDHHC13	54503	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	19187855	19187855	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr11:19187855G>T	ENST00000446113.2	+	14	1518	c.1397G>T	c.(1396-1398)gGc>gTc	p.G466V	ZDHHC13_ENST00000399351.3_Missense_Mutation_p.G336V	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	466					metabolic process (GO:0008152)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.G336V(1)|p.G466V(1)		NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TGAGGTTTTGGCAACCATCAC	0.308																																																	2	Substitution - Missense(2)	kidney(2)											160.0	143.0	148.0					11																	19187855		1812	4063	5875	SO:0001583	missense	54503			AB024495	CCDS44550.1, CCDS44551.1	11p15.1	2013-01-10			ENSG00000177054	ENSG00000177054		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18413	protein-coding gene	gene with protein product		612815				18794299	Standard	NM_001001483		Approved	FLJ10852, FLJ10941, HIP14L	uc001mpi.3	Q8IUH4	OTTHUMG00000166099	ENST00000446113.2:c.1397G>T	11.37:g.19187855G>T	ENSP00000400113:p.Gly466Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z2D3|Q86VK2|Q9NV30|Q9NV99	Missense_Mutation	SNP	ENST00000446113.2	37	CCDS44550.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.467697	0.63625	.	.	ENSG00000177054	ENST00000446113;ENST00000399351	T;T	0.26067	1.76;1.76	5.67	5.67	0.87782	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.321313	0.39274	N	0.001416	T	0.55800	0.1943	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.58983	-0.7539	10	0.72032	D	0.01	0.1826	17.0562	0.86534	0.0:0.0:1.0:0.0	.	466	Q8IUH4	ZDH13_HUMAN	V	466;336	ENSP00000400113:G466V;ENSP00000382288:G336V	ENSP00000382288:G336V	G	+	2	0	ZDHHC13	19144431	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	6.601000	0.74136	2.836000	0.97738	0.655000	0.94253	GGC		0.308	ZDHHC13-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387821.1		NM_019028	
ZNF469	84627	broad.mit.edu	37	16	88494070	88494070	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr16:88494070delG	ENST00000437464.1	+	1	192	c.192delG	c.(190-192)cagfs	p.Q64fs	ZNF469_ENST00000565624.1_Frame_Shift_Del_p.Q64fs	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	64	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						CCGAGGCCCAGCCAAGGCAGG	0.731																																																	0													5.0	10.0	8.0					16																	88494070		660	1532	2192	SO:0001589	frameshift_variant	84627			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.192delG	16.37:g.88494070delG	ENSP00000402343:p.Gln64fs	Somatic		WXS	Illumina GAIIx	Phase_I		Frame_Shift_Del	DEL	ENST00000437464.1	37	CCDS45544.1																																																																																				0.731	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NG_012236	
ZNF616	90317	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52619876	52619876	+	Silent	SNP	T	T	G			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr19:52619876T>G	ENST00000600228.1	-	4	802	c.541A>C	c.(541-543)Agg>Cgg	p.R181R	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R181R(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTTTTTTCCCTAATGTGTGGA	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											164.0	154.0	158.0					19																	52619876		2203	4300	6503	SO:0001819	synonymous_variant	90317			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.541A>C	19.37:g.52619876T>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	CCDS33090.1																																																																																				0.373	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1		XM_030892	
STK31	56164	broad.mit.edu	37	7	23827688	23827688	+	Silent	SNP	T	T	C			TCGA-CJ-5682-01A-11D-1534-10	TCGA-CJ-5682-11A-01D-1535-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	deceb0ba-600f-491a-a207-2e0205ff89d2	377fbab4-2520-4501-98bf-b1193022b81f	g.chr7:23827688T>C	ENST00000355870.3	+	21	2696	c.2577T>C	c.(2575-2577)aaT>aaC	p.N859N	STK31_ENST00000354639.3_Silent_p.N836N|STK31_ENST00000428484.1_Silent_p.N836N|STK31_ENST00000433467.2_Silent_p.N859N|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	859	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.N859N(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATCAGAACAATGTATTTGCTT	0.358																																						.											1	Substitution - coding silent(1)	kidney(1)											135.0	126.0	129.0					7																	23827688		2203	4300	6503	SO:0001819	synonymous_variant	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2577T>C	7.37:g.23827688T>C		Somatic		WXS	Illumina GAIIx	Phase_I	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	CCDS5386.1																																																																																				0.358	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2		NM_031414	
