#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AFF2	2334	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	148035250	148035250	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chrX:148035250C>A	ENST00000370460.2	+	10	2017	c.1538C>A	c.(1537-1539)cCt>cAt	p.P513H	AFF2_ENST00000342251.3_Missense_Mutation_p.P480H|AFF2_ENST00000286437.5_Missense_Mutation_p.P154H|AFF2_ENST00000370457.5_Missense_Mutation_p.P480H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	513					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.P513H(2)|p.P154H(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AATGAGGCACCTCGTGTGGCA	0.577																																																	3	Substitution - Missense(3)	kidney(3)											110.0	101.0	104.0					X																	148035250		2203	4300	6503	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1538C>A	X.37:g.148035250C>A	ENSP00000359489:p.Pro513His		A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955502	0.73902	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.12	5.12	0.69794	.	0.130432	0.52532	D	0.000062	T	0.76011	0.3928	M	0.64170	1.965	0.30407	N	0.779482	D;D;D;D;D;D	0.67145	0.996;0.995;0.995;0.995;0.995;0.996	D;P;P;P;P;D	0.64042	0.921;0.871;0.871;0.871;0.871;0.921	T	0.76814	-0.2820	10	0.72032	D	0.01	.	17.9497	0.89048	0.0:1.0:0.0:0.0	.	154;478;480;474;503;513	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	H	513;480;480;154	ENSP00000359489:P513H;ENSP00000359486:P480H;ENSP00000345459:P480H;ENSP00000286437:P154H	ENSP00000286437:P154H	P	+	2	0	AFF2	147842950	0.984000	0.35163	0.962000	0.40283	0.927000	0.56198	5.209000	0.65208	2.260000	0.74910	0.600000	0.82982	CCT		0.577	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2		NM_002025	
ALAD	210	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	116154422	116154422	+	Silent	SNP	G	G	T	rs116243288	byFrequency	TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr9:116154422G>T	ENST00000409155.3	-	3	337	c.141C>A	c.(139-141)atC>atA	p.I47I	ALAD_ENST00000482001.1_5'UTR|ALAD_ENST00000277315.5_Intron	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	47					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)	p.I76I(1)|p.I47I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GGAGGCTGGTGATAGGCTGTA	0.622																																																	2	Substitution - coding silent(2)	kidney(2)											57.0	54.0	55.0					9																	116154422		2203	4300	6503	SO:0001819	synonymous_variant	210			M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"""porphobilinogen synthase"""	125270	"""aminolevulinate, delta-, dehydratase"""			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.141C>A	9.37:g.116154422G>T			A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Silent	SNP	ENST00000409155.3	37	CCDS6794.2																																																																																				0.622	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3		NM_001003945	
ALAS2	212	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	55039931	55039931	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chrX:55039931C>A	ENST00000330807.5	-	10	1725	c.1588G>T	c.(1588-1590)Gaa>Taa	p.E530*	ALAS2_ENST00000335854.4_Nonsense_Mutation_p.E493*|ALAS2_ENST00000498636.1_Intron|ALAS2_ENST00000396198.3_Nonsense_Mutation_p.E517*	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	530					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)	p.E517*(1)|p.E530*(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ACAAAATCTTCCATCATCTGA	0.577																																																	2	Substitution - Nonsense(2)	kidney(2)											62.0	49.0	54.0					X																	55039931		2203	4300	6503	SO:0001587	stop_gained	212				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.1588G>T	X.37:g.55039931C>A	ENSP00000332369:p.Glu530*		A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Nonsense_Mutation	SNP	ENST00000330807.5	37	CCDS14366.1	.	.	.	.	.	.	.	.	.	.	C	38	6.999099	0.97990	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	.	.	.	5.39	5.39	0.77823	.	0.256670	0.44688	D	0.000428	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-14.0501	10.8484	0.46757	0.0:0.9091:0.0:0.0909	.	.	.	.	X	530;517;493	.	ENSP00000332369:E530X	E	-	1	0	ALAS2	55056656	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.043000	0.30316	2.411000	0.81874	0.538000	0.68166	GAA		0.577	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3		NM_000032	
ALMS1	7840	broad.mit.edu;hgsc.bcm.edu	37	2	73677725	73677725	+	Silent	SNP	T	T	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr2:73677725T>A	ENST00000264448.6	+	8	4179	c.4068T>A	c.(4066-4068)gcT>gcA	p.A1356A	ALMS1_ENST00000409009.1_Silent_p.A1314A|ALMS1_ENST00000377715.1_Silent_p.A1356A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1356	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.A1356A(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGAAGAGGCTCTGAAAATTT	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											88.0	90.0	89.0					2																	73677725		1848	4091	5939	SO:0001819	synonymous_variant	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.4068T>A	2.37:g.73677725T>A			Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	ENST00000264448.6	37	CCDS42697.1																																																																																				0.438	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1		NM_015120	
ASTL	431705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	96789864	96789864	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr2:96789864C>A	ENST00000342380.2	-	9	1020	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.E341*(1)|p.E341K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TGTGGGCTCTCCCCAGGCCCT	0.652																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	kidney(1)|skin(1)											42.0	47.0	45.0					2																	96789864		2203	4299	6502	SO:0001587	stop_gained	431705			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.1021G>T	2.37:g.96789864C>A	ENSP00000343674:p.Glu341*			Nonsense_Mutation	SNP	ENST00000342380.2	37	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673527	0.29693	.	.	ENSG00000188886	ENST00000342380	.	.	.	4.77	1.83	0.25207	.	1.101640	0.07105	N	0.841237	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-8.975	5.8929	0.18923	0.0:0.6492:0.1613:0.1895	.	.	.	.	X	341	.	ENSP00000343674:E341X	E	-	1	0	ASTL	96153591	0.020000	0.18652	0.102000	0.21198	0.028000	0.11728	0.559000	0.23485	0.515000	0.28320	-0.314000	0.08810	GAG		0.652	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108202714	108202714	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr11:108202714A>T	ENST00000452508.2	+	53	7927	c.7738A>T	c.(7738-7740)Aga>Tga	p.R2580*	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Nonsense_Mutation_p.R2580*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2580					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R2580*(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGTAGCCAGAAGAAGCAGAAT	0.363			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	2	Substitution - Nonsense(2)	kidney(2)											88.0	87.0	87.0					11																	108202714		2201	4298	6499	SO:0001587	stop_gained	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7738A>T	11.37:g.108202714A>T	ENSP00000388058:p.Arg2580*		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	48	14.434443	0.99795	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.44	5.44	0.79542	.	0.186382	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5069	0.50472	0.8502:0.1498:0.0:0.0	.	.	.	.	X	2580	.	ENSP00000278616:R2580X	R	+	1	2	ATM	107707924	1.000000	0.71417	0.996000	0.52242	0.344000	0.29017	4.799000	0.62517	2.066000	0.61787	0.443000	0.29094	AGA		0.363	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051	
ATP6AP1L	92270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	81614047	81614047	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr5:81614047G>T	ENST00000380167.4	+	10	1928	c.603G>T	c.(601-603)aaG>aaT	p.K201N	ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.K201N|ATP6AP1L_ENST00000508366.1_Intron			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	201					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.K201N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CCGAAGAGAAGGAGCTGCTGA	0.527																																																	1	Substitution - Missense(1)	kidney(1)											55.0	62.0	60.0					5																	81614047		2203	4300	6503	SO:0001583	missense	92270			AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.603G>T	5.37:g.81614047G>T	ENSP00000369513:p.Lys201Asn			Missense_Mutation	SNP	ENST00000380167.4	37	CCDS34196.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333413	0.41297	.	.	ENSG00000205464	ENST00000380167;ENST00000439350	.	.	.	5.54	4.66	0.58398	.	0.059731	0.64402	D	0.000004	T	0.72137	0.3423	M	0.75447	2.3	0.38070	D	0.936333	D	0.76494	0.999	D	0.72075	0.976	T	0.74861	-0.3520	9	0.46703	T	0.11	.	10.7257	0.46066	0.172:0.0:0.828:0.0	.	201	Q52LC2	VAS1L_HUMAN	N	201	.	ENSP00000369513:K201N	K	+	3	2	ATP6AP1L	81649803	1.000000	0.71417	1.000000	0.80357	0.316000	0.28119	2.967000	0.49216	2.601000	0.87937	0.563000	0.77884	AAG		0.527	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3		NM_001017971	
BAP1	8314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52441262	52441262	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr3:52441262A>C	ENST00000460680.1	-	7	979	c.508T>G	c.(508-510)Ttt>Gtt	p.F170V	BAP1_ENST00000296288.5_Missense_Mutation_p.F170V	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.F170V(2)|p.E166fs*13(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TAGCTGACAAAGTGGAACGCC	0.577			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)			Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	3	Substitution - Missense(2)|Deletion - Frameshift(1)	prostate(1)|eye(1)|kidney(1)											83.0	81.0	82.0					3																	52441262		2203	4300	6503	SO:0001583	missense	8314			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.508T>G	3.37:g.52441262A>C	ENSP00000417132:p.Phe170Val		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.040462	0.93630	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000470173	T;T;T	0.75260	-0.92;-0.92;-0.92	5.95	5.95	0.96441	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	D	0.90174	0.6929	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92742	0.6209	10	0.87932	D	0	-8.6289	16.4216	0.83760	1.0:0.0:0.0:0.0	.	170	Q92560	BAP1_HUMAN	V	170;170;91	ENSP00000417132:F170V;ENSP00000296288:F170V;ENSP00000417776:F91V	ENSP00000296288:F170V	F	-	1	0	BAP1	52416302	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.297000	0.96120	2.285000	0.76669	0.533000	0.62120	TTT		0.577	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			
C11orf84	144097	broad.mit.edu	37	11	63586459	63586459	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr11:63586459G>A	ENST00000294244.4	+	5	1218	c.919G>A	c.(919-921)Gag>Aag	p.E307K		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	307								p.E307K(1)		endometrium(3)|kidney(1)|lung(3)|skin(1)	8						TCCCCGGGCGGAGAGCCCCTC	0.647																																																	1	Substitution - Missense(1)	kidney(1)											26.0	30.0	29.0					11																	63586459		2199	4298	6497	SO:0001583	missense	144097			BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.919G>A	11.37:g.63586459G>A	ENSP00000294244:p.Glu307Lys		Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	ENST00000294244.4	37	CCDS31594.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.56|12.56	1.973666|1.973666	0.34848|0.34848	.|.	.|.	ENSG00000168005|ENSG00000168005	ENST00000294244;ENST00000540893|ENST00000535820	T|.	0.47177|.	0.85|.	4.67|4.67	-0.339|-0.339	0.12647|0.12647	.|.	0.828985|.	0.10877|.	N|.	0.624204|.	T|T	0.38241|0.38241	0.1033|0.1033	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B|.	0.19200|.	0.034|.	B|.	0.25291|.	0.059|.	T|T	0.35325|0.35325	-0.9793|-0.9793	10|5	0.87932|.	D|.	0|.	-4.9371|-4.9371	8.4049|8.4049	0.32608|0.32608	0.1026:0.5823:0.3151:0.0|0.1026:0.5823:0.3151:0.0	.|.	307|.	Q9BUA3|.	CK084_HUMAN|.	K|E	307;82|14	ENSP00000294244:E307K|.	ENSP00000294244:E307K|.	E|G	+|+	1|2	0|0	C11orf84|C11orf84	63343035|63343035	0.044000|0.044000	0.20184|0.20184	0.009000|0.009000	0.14445|0.14445	0.084000|0.084000	0.17831|0.17831	0.089000|0.089000	0.15002|0.15002	0.116000|0.116000	0.18110|0.18110	0.561000|0.561000	0.74099|0.74099	GAG|GGA		0.647	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396084.1		NM_138471	
CD180	4064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	66479940	66479940	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr5:66479940T>G	ENST00000256447.4	-	3	888	c.731A>C	c.(730-732)aAc>aCc	p.N244T		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	244					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N244T(1)		cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AGTAGTAGAGTTCTGCAGACC	0.413																																																	1	Substitution - Missense(1)	kidney(1)											83.0	90.0	88.0					5																	66479940		2203	4300	6503	SO:0001583	missense	4064			D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.731A>C	5.37:g.66479940T>G	ENSP00000256447:p.Asn244Thr		B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.099872	0.37048	.	.	ENSG00000134061	ENST00000256447	T	0.37915	1.17	5.4	4.23	0.50019	.	0.225550	0.39909	N	0.001232	T	0.36963	0.0986	M	0.78223	2.4	0.40232	D	0.977867	P	0.42993	0.797	B	0.39152	0.292	T	0.26744	-1.0094	10	0.22706	T	0.39	.	10.5779	0.45238	0.1436:0.0:0.0:0.8564	.	244	Q99467	CD180_HUMAN	T	244	ENSP00000256447:N244T	ENSP00000256447:N244T	N	-	2	0	CD180	66515696	0.400000	0.25295	0.760000	0.31359	0.954000	0.61252	1.645000	0.37238	1.054000	0.40438	0.533000	0.62120	AAC		0.413	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2		NM_005582	
C19orf44	84167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	16630029	16630029	+	Intron	SNP	G	G	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr19:16630029G>A	ENST00000221671.3	+	9	2170				CHERP_ENST00000546361.2_Missense_Mutation_p.R898C|CTD-3222D19.2_ENST00000409035.1_3'UTR|CHERP_ENST00000198939.6_Missense_Mutation_p.R909C|CHERP_ENST00000544299.1_5'UTR	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44									p.R898C(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TTGTTCCTGCGGTAGTTCTCA	0.642																																																	1	Substitution - Missense(1)	kidney(1)											55.0	59.0	58.0					19																	16630029		2029	4182	6211	SO:0001627	intron_variant	10523			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.1972-876G>A	19.37:g.16630029G>A			Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.005554	0.54254	.	.	ENSG00000085872	ENST00000546361;ENST00000198939	T;T	0.50001	0.76;0.78	5.21	3.01	0.34805	.	.	.	.	.	T	0.63628	0.2527	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.62709	-0.6797	9	0.66056	D	0.02	-23.0805	7.9324	0.29909	0.0781:0.0:0.6243:0.2976	.	898	Q8IWX8	CHERP_HUMAN	C	898;909	ENSP00000439856:R898C;ENSP00000198939:R909C	ENSP00000198939:R909C	R	-	1	0	CHERP	16491029	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.271000	0.43364	0.551000	0.29008	-0.234000	0.12200	CGC		0.642	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1		NM_032207	
CLOCK	9575	broad.mit.edu;ucsc.edu	37	4	56314944	56314945	+	Splice_Site	DNP	AC	AC	GA			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr4:56314944_56314945AC>GA	ENST00000309964.4	-	17	1790		c.e17+1		CLOCK_ENST00000381322.1_Splice_Site|CLOCK_ENST00000513440.1_Splice_Site	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator						cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.?(3)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ACCAAAAAGTACCTGGGACATG	0.366																																																	3	Unknown(3)	kidney(3)																																								SO:0001630	splice_region_variant	9575			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.1540_1540delinsGA	4.37:g.56314944_56314945delinsGA			A0AV01|A2I2N9|O14516|Q9UIT8	Splice_Site	SNP	ENST00000309964.4	37	CCDS3500.1																																																																																				0.366	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2		NM_004898	Intron
COG6	57511	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	40268842	40268842	+	Silent	SNP	A	A	G			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr13:40268842A>G	ENST00000455146.3	+	12	1196	c.1146A>G	c.(1144-1146)aaA>aaG	p.K382K	COG6_ENST00000416691.1_Silent_p.K382K	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	382					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.K382K(1)		NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATCTCCTCAAATTTTATCACC	0.308																																																	1	Substitution - coding silent(1)	kidney(1)											41.0	49.0	47.0					13																	40268842		2199	4267	6466	SO:0001819	synonymous_variant	57511			AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.1146A>G	13.37:g.40268842A>G			Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Silent	SNP	ENST00000455146.3	37	CCDS9370.1																																																																																				0.308	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			
CSPP1	79848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	68084731	68084731	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr8:68084731A>T	ENST00000262210.5	+	23	2925	c.2894A>T	c.(2893-2895)aAg>aTg	p.K965M	CSPP1_ENST00000412460.1_Missense_Mutation_p.K620M|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1000					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.K965M(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CAGTCCCCTAAGGGCTTAGAC	0.398																																																	1	Substitution - Missense(1)	kidney(1)											76.0	77.0	77.0					8																	68084731		1848	4097	5945	SO:0001583	missense	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2894A>T	8.37:g.68084731A>T	ENSP00000262210:p.Lys965Met		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314450	0.81358	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.39406	1.08;1.12;1.12	5.62	5.62	0.85841	.	0.364252	0.28403	N	0.015465	T	0.62708	0.2450	M	0.64997	1.995	0.40361	D	0.979241	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.996;0.999;0.999	T	0.66677	-0.5863	10	0.72032	D	0.01	-25.7584	15.5002	0.75691	1.0:0.0:0.0:0.0	.	123;620;965;1000	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	M	965;1000;620;620	ENSP00000262210:K965M;ENSP00000415782:K620M;ENSP00000430092:K620M	ENSP00000262210:K965M	K	+	2	0	CSPP1	68247285	1.000000	0.71417	0.932000	0.37286	0.925000	0.55904	2.925000	0.48884	2.129000	0.65627	0.533000	0.62120	AAG		0.398	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1		NM_024790	
CYP11B2	1585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	143994011	143994011	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr8:143994011A>T	ENST00000323110.2	-	8	1335	c.1333T>A	c.(1333-1335)Ttt>Att	p.F445I		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	445					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.F445I(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CGCATGCCAAAGCCAAAGGGC	0.677									Familial Hyperaldosteronism type I																																								1	Substitution - Missense(1)	kidney(1)											68.0	77.0	74.0					8																	143994011		2203	4300	6503	SO:0001583	missense	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1333T>A	8.37:g.143994011A>T	ENSP00000325822:p.Phe445Ile		B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	18.30	3.593349	0.66219	.	.	ENSG00000179142	ENST00000323110	T	0.68903	-0.36	3.52	3.52	0.40303	Cytochrome P450, conserved site (1);	0.000000	0.52532	D	0.000080	T	0.75184	0.3815	L	0.53671	1.685	0.45005	D	0.998029	D	0.89917	1.0	D	0.87578	0.998	T	0.75596	-0.3263	10	0.52906	T	0.07	.	10.3128	0.43718	1.0:0.0:0.0:0.0	.	445	P19099	C11B2_HUMAN	I	445	ENSP00000325822:F445I	ENSP00000325822:F445I	F	-	1	0	CYP11B2	143991013	1.000000	0.71417	0.999000	0.59377	0.354000	0.29330	5.464000	0.66719	1.578000	0.49821	0.460000	0.39030	TTT		0.677	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			
DCAF4L1	285429	broad.mit.edu;ucsc.edu	37	4	41983927	41983927	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr4:41983927A>C	ENST00000333141.5	+	1	215	c.118A>C	c.(118-120)Acc>Ccc	p.T40P		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	40								p.T40P(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CCTCAACGTCACCAGTTACTC	0.532																																																	1	Substitution - Missense(1)	kidney(1)											142.0	124.0	130.0					4																	41983927		2203	4300	6503	SO:0001583	missense	285429			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.118A>C	4.37:g.41983927A>C	ENSP00000327796:p.Thr40Pro		B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	A	8.736	0.917914	0.17982	.	.	ENSG00000182308	ENST00000333141	T	0.39229	1.09	0.688	0.688	0.18027	WD40 repeat-like-containing domain (1);	0.333095	0.34725	N	0.003737	T	0.29588	0.0738	L	0.53249	1.67	0.20638	N	0.999879	B	0.31655	0.334	B	0.18263	0.021	T	0.15838	-1.0423	9	0.45353	T	0.12	.	.	.	.	.	40	Q3SXM0	DC4L1_HUMAN	P	40	ENSP00000327796:T40P	ENSP00000327796:T40P	T	+	1	0	DCAF4L1	41678684	0.000000	0.05858	0.329000	0.25429	0.577000	0.36160	-0.615000	0.05597	0.530000	0.28619	0.260000	0.18958	ACC		0.532	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1		NM_001029955	
DNAH11	8701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	21913067	21913067	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr7:21913067C>A	ENST00000409508.3	+	74	12174	c.12143C>A	c.(12142-12144)cCc>cAc	p.P4048H	DNAH11_ENST00000328843.6_Missense_Mutation_p.P4055H	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4055	AAA 6. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P4055H(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTAATGAACCCCCAACAGGG	0.473									Kartagener syndrome																																								1	Substitution - Missense(1)	kidney(1)											71.0	68.0	69.0					7																	21913067		1918	4154	6072	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.12143C>A	7.37:g.21913067C>A	ENSP00000475939:p.Pro4048His		Q9UJ82	Silent	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	C	28.6	4.931477	0.92389	.	.	ENSG00000105877	ENST00000328843	T	0.15603	2.41	5.78	5.78	0.91487	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.47284	0.1437	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.43972	-0.9358	9	0.87932	D	0	.	20.0204	0.97499	0.0:1.0:0.0:0.0	.	4055	Q96DT5	DYH11_HUMAN	H	4055	ENSP00000330671:P4055H	ENSP00000330671:P4055H	P	+	2	0	DNAH11	21879592	1.000000	0.71417	0.993000	0.49108	0.918000	0.54935	7.720000	0.84759	2.729000	0.93468	0.650000	0.86243	CCC		0.473	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777	
DNAH7	56171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	196642652	196642652	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr2:196642652C>T	ENST00000312428.6	-	59	11036	c.10936G>A	c.(10936-10938)Gtg>Atg	p.V3646M	DNAH7_ENST00000409063.1_Missense_Mutation_p.V129M	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3646					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.V3646M(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCATCGGTCACTCTGCCTCCG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											83.0	85.0	84.0					2																	196642652		2183	4294	6477	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.10936G>A	2.37:g.196642652C>T	ENSP00000311273:p.Val3646Met		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598531	0.66332	.	.	ENSG00000118997	ENST00000312428;ENST00000409063	T;T	0.14022	2.54;2.54	4.98	4.98	0.66077	Dynein heavy chain (1);	0.000000	0.64402	D	0.000001	T	0.60907	0.2305	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80783	-0.1228	10	0.87932	D	0	.	18.0378	0.89309	0.0:1.0:0.0:0.0	.	3646	Q8WXX0	DYH7_HUMAN	M	3646;129	ENSP00000311273:V3646M;ENSP00000386912:V129M	ENSP00000311273:V3646M	V	-	1	0	DNAH7	196350897	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	7.207000	0.77899	2.583000	0.87209	0.655000	0.94253	GTG		0.473	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897	
DOCK10	55619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	225729384	225729384	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr2:225729384A>C	ENST00000258390.7	-	13	1555	c.1488T>G	c.(1486-1488)ttT>ttG	p.F496L	DOCK10_ENST00000409592.3_Missense_Mutation_p.F490L	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	496					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F496L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGCTTACAGAAAATACAGCCT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											72.0	67.0	68.0					2																	225729384		1815	4085	5900	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1488T>G	2.37:g.225729384A>C	ENSP00000258390:p.Phe496Leu		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	A	16.50	3.140863	0.56936	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.42900	0.96;0.96	5.77	0.874	0.19124	.	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	M	0.72118	2.19	0.36160	D	0.848039	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.80764	0.986;0.994;0.986	T	0.61520	-0.7046	10	0.44086	T	0.13	.	9.5029	0.39028	0.5322:0.0:0.4678:0.0	.	496;496;490	Q96BY6;Q96BY6-2;B3FL70	DOC10_HUMAN;.;.	L	490;496	ENSP00000386694:F490L;ENSP00000258390:F496L	ENSP00000258390:F496L	F	-	3	2	DOCK10	225437628	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	2.352000	0.44080	0.199000	0.20427	0.528000	0.53228	TTT		0.353	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			
EPHA3	2042	hgsc.bcm.edu;ucsc.edu	37	3	89468448	89468448	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr3:89468448delA	ENST00000336596.2	+	11	2207	c.1982delA	c.(1981-1983)gaafs	p.E661fs	EPHA3_ENST00000494014.1_Frame_Shift_Del_p.E661fs	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	661	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GGCTACACAGAAAAGCAGAGG	0.428										TSP Lung(6;0.00050)																																							0													104.0	98.0	100.0					3																	89468448		2203	4300	6503	SO:0001589	frameshift_variant	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1982delA	3.37:g.89468448delA	ENSP00000337451:p.Glu661fs		Q9H2V3|Q9H2V4	Frame_Shift_Del	DEL	ENST00000336596.2	37	CCDS2922.1																																																																																				0.428	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1		NM_005233	
EPS15L1	58513	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	16535940	16535940	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr19:16535940T>C	ENST00000248070.6	-	9	885	c.746A>G	c.(745-747)aAc>aGc	p.N249S	EPS15L1_ENST00000455140.2_Missense_Mutation_p.N249S|EPS15L1_ENST00000594975.1_Missense_Mutation_p.N249S|EPS15L1_ENST00000597937.1_Missense_Mutation_p.N249S|EPS15L1_ENST00000602009.1_Missense_Mutation_p.N95S|EPS15L1_ENST00000535753.2_Missense_Mutation_p.N249S	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	249	Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N249S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CCCTGTGCTGTTGAGGCTGCT	0.647																																																	1	Substitution - Missense(1)	kidney(1)											56.0	54.0	55.0					19																	16535940		2203	4300	6503	SO:0001583	missense	58513			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.746A>G	19.37:g.16535940T>C	ENSP00000248070:p.Asn249Ser		A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	T	9.878	1.200794	0.22121	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.30182	1.95;1.94;1.54	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.16171	0.0389	N	0.12182	0.205	0.46185	D	0.998915	B;B;B;B;B;B	0.31599	0.12;0.034;0.077;0.196;0.33;0.175	B;B;B;B;B;B	0.30943	0.032;0.013;0.047;0.047;0.085;0.122	T	0.06607	-1.0817	10	0.08179	T	0.78	.	13.6296	0.62188	0.0:0.0:0.0:1.0	.	249;249;248;249;249;249	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	S	249	ENSP00000393313:N249S;ENSP00000248070:N249S;ENSP00000440103:N249S	ENSP00000248070:N249S	N	-	2	0	EPS15L1	16396940	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.066000	0.41452	2.013000	0.59113	0.459000	0.35465	AAC		0.647	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1		NM_021235	
EYS	346007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	66205260	66205260	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr6:66205260T>A	ENST00000370621.3	-	4	570	c.44A>T	c.(43-45)cAc>cTc	p.H15L	EYS_ENST00000370618.3_Missense_Mutation_p.H15L|EYS_ENST00000342421.5_Missense_Mutation_p.H15L|EYS_ENST00000503581.1_Missense_Mutation_p.H15L|EYS_ENST00000370616.2_Missense_Mutation_p.H15L|EYS_ENST00000393380.2_Missense_Mutation_p.H15L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	15					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.H15L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GAAAGAGCTGTGAAAAACCAT	0.373																																																	2	Substitution - Missense(2)	kidney(2)											67.0	67.0	67.0					6																	66205260		2203	4300	6503	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.44A>T	6.37:g.66205260T>A	ENSP00000359655:p.His15Leu		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	T	14.11	2.438360	0.43326	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.89939	-1.7;-1.68;-1.68;-2.59;-2.55;-2.55	4.76	2.35	0.29111	.	.	.	.	.	T	0.65144	0.2663	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19331	0.021;0.021;0.035	B;B;B	0.13407	0.009;0.009;0.007	T	0.58081	-0.7699	9	0.54805	T	0.06	.	7.1396	0.25548	0.0:0.1845:0.0:0.8155	.	15;15;15	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	L	15	ENSP00000424243:H15L;ENSP00000359655:H15L;ENSP00000359650:H15L;ENSP00000377042:H15L;ENSP00000341818:H15L;ENSP00000359652:H15L	ENSP00000341818:H15L	H	-	2	0	EYS	66261981	0.031000	0.19500	0.001000	0.08648	0.002000	0.02628	1.565000	0.36386	0.271000	0.22005	-0.326000	0.08463	CAC		0.373	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3		XM_294050	
FBLN2	2199	broad.mit.edu;ucsc.edu	37	3	13670697	13670697	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr3:13670697G>T	ENST00000295760.7	+	12	2675	c.2606G>T	c.(2605-2607)tGc>tTc	p.C869F	FBLN2_ENST00000535798.1_Missense_Mutation_p.C895F|FBLN2_ENST00000404922.3_Missense_Mutation_p.C916F|FBLN2_ENST00000492059.1_Missense_Mutation_p.C916F	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	869	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.C916F(1)|p.C335F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GTGCACCGCTGCGGTGAGGGC	0.652																																																	2	Substitution - Missense(2)	kidney(2)											44.0	50.0	48.0					3																	13670697		2120	4233	6353	SO:0001583	missense	2199			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2606G>T	3.37:g.13670697G>T	ENSP00000295760:p.Cys869Phe		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378592	0.82682	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.99445	-5.14;-5.14;-5.91;-5.14	4.91	4.91	0.64330	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	H	0.96943	3.91	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.97112	0.9805	10	0.87932	D	0	.	18.095	0.89487	0.0:0.0:1.0:0.0	.	869;916;895	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	F	895;916;869;916	ENSP00000445705:C895F;ENSP00000384169:C916F;ENSP00000295760:C869F;ENSP00000420042:C916F	ENSP00000295760:C869F	C	+	2	0	FBLN2	13645698	1.000000	0.71417	0.738000	0.30950	0.941000	0.58515	9.593000	0.98250	2.258000	0.74832	0.655000	0.94253	TGC		0.652	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3		NM_001004019	
FLVCR2	55640	broad.mit.edu;hgsc.bcm.edu	37	14	76045408	76045408	+	Silent	SNP	C	C	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr14:76045408C>A	ENST00000238667.4	+	1	449	c.93C>A	c.(91-93)ccC>ccA	p.P31P	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	31	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].				heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)	p.P31P(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CGGTCCATCCCAGCGTCTCGG	0.642																																																	2	Substitution - coding silent(2)	lung(1)|kidney(1)											100.0	103.0	102.0					14																	76045408		2203	4300	6503	SO:0001819	synonymous_variant	55640			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.93C>A	14.37:g.76045408C>A			B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	CCDS9844.1																																																																																				0.642	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1		NM_017791	
GCLM	2730	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94370100	94370100	+	Silent	SNP	T	T	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr1:94370100T>C	ENST00000370238.3	-	2	417	c.171A>G	c.(169-171)caA>caG	p.Q57Q	GCLM_ENST00000467772.1_5'UTR	NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	57					apoptotic mitochondrial changes (GO:0008637)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)	p.Q57Q(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	CTGGGTTGATTTGGGAACTCC	0.338																																																	1	Substitution - coding silent(1)	kidney(1)											131.0	121.0	124.0					1																	94370100		2203	4300	6503	SO:0001819	synonymous_variant	2730			L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"""gamma-glutamylcysteine synthetase"""	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.171A>G	1.37:g.94370100T>C			A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Silent	SNP	ENST00000370238.3	37	CCDS746.1																																																																																				0.338	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029169.1		NM_002061	
GMCL1P1	64396	broad.mit.edu	37	5	177612983	177612983	+	IGR	SNP	G	G	A	rs13169133	byFrequency	TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr5:177612983G>A								NHP2 (32015 upstream) : HNRNPAB (18524 downstream)																							GACCCGCTGCGTGGCTGATTC	0.418													a|||	2429	0.485024	0.1664	0.5461	5008	,	,		21826	0.4871		0.7207	False		,,,				2504	0.6278																0																																										SO:0001628	intergenic_variant	0																															5.37:g.177612983G>A				Missense_Mutation	SNP		37																																																																																				0	0.418									
GZF1	64412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	23347703	23347703	+	Silent	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr20:23347703C>T	ENST00000338121.5	+	3	1505	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	GZF1_ENST00000377051.2_Silent_p.H476H|GZF1_ENST00000544236.1_5'UTR|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	476					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)	p.H476H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CTCAGAACCACATGCTGATTT	0.348																																																	1	Substitution - coding silent(1)	kidney(1)											137.0	121.0	126.0					20																	23347703		2203	4300	6503	SO:0001819	synonymous_variant	64412			AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.1428C>T	20.37:g.23347703C>T			A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Silent	SNP	ENST00000338121.5	37	CCDS13151.1																																																																																				0.348	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1		NM_022482	
HIP1	3092	broad.mit.edu	37	7	75182782	75182782	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr7:75182782G>T	ENST00000336926.6	-	22	2291	c.2265C>A	c.(2263-2265)aaC>aaA	p.N755K	HIP1_ENST00000434438.2_Missense_Mutation_p.N755K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	755					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.N757K(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCTCAGGCAGTTCCTCATGG	0.562			T	PDGFRB	CMML																																			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	1	Substitution - Missense(1)	kidney(1)											189.0	155.0	167.0					7																	75182782		2203	4300	6503	SO:0001583	missense	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2265C>A	7.37:g.75182782G>T	ENSP00000336747:p.Asn755Lys		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	g	6.013	0.370771	0.11409	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14266	2.74;2.52	5.04	3.12	0.35913	.	0.768186	0.13023	N	0.419922	T	0.08935	0.0221	L	0.33485	1.01	0.25163	N	0.990337	B;B	0.11235	0.004;0.002	B;B	0.14023	0.01;0.001	T	0.38887	-0.9640	10	0.06891	T	0.86	-7.4657	8.099	0.30846	0.0878:0.1589:0.7533:0.0	.	755;755	E7ES17;O00291	.;HIP1_HUMAN	K	755	ENSP00000336747:N755K;ENSP00000410300:N755K	ENSP00000336747:N755K	N	-	3	2	HIP1	75020718	0.995000	0.38212	0.829000	0.32907	0.987000	0.75469	1.627000	0.37050	1.297000	0.44761	0.650000	0.86243	AAC		0.562	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2		NM_005338	
KIF4B	285643	broad.mit.edu;hgsc.bcm.edu	37	5	154396598	154396598	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr5:154396598G>T	ENST00000435029.4	+	1	3339	c.3179G>T	c.(3178-3180)gGt>gTt	p.G1060V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1060	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.G1060V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			gatggtgatggtgatggcgac	0.458																																																	2	Substitution - Missense(2)	kidney(2)											117.0	109.0	112.0					5																	154396598		2203	4300	6503	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3179G>T	5.37:g.154396598G>T	ENSP00000387875:p.Gly1060Val			Missense_Mutation	SNP	ENST00000435029.4	37	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	G	7.320	0.616855	0.14129	.	.	ENSG00000226650	ENST00000435029	T	0.69175	-0.38	1.42	1.42	0.22433	.	.	.	.	.	T	0.40862	0.1134	N	0.08118	0	0.21878	N	0.999498	B	0.32968	0.392	B	0.32624	0.149	T	0.23547	-1.0185	9	0.25106	T	0.35	.	6.2465	0.20820	0.0:0.0:1.0:0.0	.	1060	Q2VIQ3	KIF4B_HUMAN	V	1060	ENSP00000387875:G1060V	ENSP00000387875:G1060V	G	+	2	0	KIF4B	154376791	0.002000	0.14202	0.314000	0.25224	0.717000	0.41224	-1.060000	0.03475	1.074000	0.40909	0.462000	0.41574	GGT		0.458	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			
TPTE2P6	374491	broad.mit.edu	37	13	25161456	25161456	+	RNA	SNP	C	C	T	rs538521242		TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr13:25161456C>T	ENST00000453498.1	+	0	980				TPTE2P6_ENST00000440905.1_RNA																							ATTATTTATTCGATTCGTGGT	0.378													c|||	1	0.000199681	0.0008	0.0	5008	,	,		26560	0.0		0.0	False		,,,				2504	0.0																0																																												0																															13.37:g.25161456C>T				RNA	SNP	ENST00000453498.1	37																																																																																					0.378	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			
MAEL	84944	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	166962002	166962002	+	Silent	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr1:166962002C>T	ENST00000367872.4	+	4	649	c.405C>T	c.(403-405)ctC>ctT	p.L135L	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Silent_p.L104L	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	135					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)	p.L135L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AGCGCTTCCTCCCTTGTGAAA	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											116.0	114.0	115.0					1																	166962002		2203	4300	6503	SO:0001819	synonymous_variant	84944			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.405C>T	1.37:g.166962002C>T			B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Silent	SNP	ENST00000367872.4	37	CCDS1257.1																																																																																				0.378	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1		NM_032858	
MIR450A1	554214	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	133674458	133674458	+	RNA	SNP	G	G	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chrX:133674458G>A	ENST00000362262.1	-	0	3				MIR450B_ENST00000401182.1_RNA|MIR542_ENST00000385050.1_RNA|MIR450A2_ENST00000385022.1_RNA	NR_029962.1				microRNA 450a-1																		GTTTAGTATCGTTTTTGATTG	0.328																																																	0													185.0	137.0	152.0					X																	133674458		1566	3579	5145			554214					Xq26.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000199132	ENSG00000199132		"""ncRNAs / Micro RNAs"""	28008	non-coding RNA	RNA, micro			"""microRNA 450"", ""microRNA 450-1"""	MIRN450, MIRN450-1, MIRN450A1			Standard	NR_029962		Approved	hsa-mir-450, hsa-mir-450-1, hsa-mir-450a-1	uc011mvl.2				X.37:g.133674458G>A				RNA	SNP	ENST00000362262.1	37																																																																																					0.328	MIR450A1-201	KNOWN	basic	miRNA	miRNA			NR_029962	
KMT2C	58508	hgsc.bcm.edu;ucsc.edu	37	7	152012275	152012275	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr7:152012275delT	ENST00000262189.6	-	4	756	c.538delA	c.(538-540)accfs	p.T180fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.T180fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	180					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTCTCATAGGTTCCATTGCTG	0.373																																																	0													261.0	228.0	239.0					7																	152012275		2202	4300	6502	SO:0001589	frameshift_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.538delA	7.37:g.152012275delT	ENSP00000262189:p.Thr180fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	CCDS5931.1																																																																																				0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			
MTUS2	23281	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	29600300	29600300	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr13:29600300C>A	ENST00000431530.3	+	1	1553	c.1495C>A	c.(1495-1497)Cct>Act	p.P499T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	489						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.P499T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCCCCTGGACCCTCAAAGTGG	0.502																																																	1	Substitution - Missense(1)	kidney(1)											79.0	85.0	83.0					13																	29600300		1980	4136	6116	SO:0001583	missense	23281			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1495C>A	13.37:g.29600300C>A	ENSP00000392057:p.Pro499Thr		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	13.92	2.380509	0.42207	.	.	ENSG00000132938	ENST00000431530	T	0.12774	2.65	5.92	2.05	0.26809	.	1.024840	0.07769	N	0.951449	T	0.13927	0.0337	L	0.57536	1.79	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.33317	-0.9873	9	.	.	.	.	5.1896	0.15203	0.4139:0.4292:0.0:0.1569	.	489	Q5JR59	MTUS2_HUMAN	T	499	ENSP00000392057:P499T	.	P	+	1	0	MTUS2	28498300	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	0.209000	0.17435	0.804000	0.34136	0.655000	0.94253	CCT		0.502	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3		XM_166270	
MYOT	9499	broad.mit.edu;hgsc.bcm.edu	37	5	137213306	137213306	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr5:137213306C>T	ENST00000239926.4	+	4	1003	c.629C>T	c.(628-630)tCg>tTg	p.S210L	MYOT_ENST00000509812.1_3'UTR|MYOT_ENST00000515645.1_Missense_Mutation_p.S95L|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.S26L	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	210					muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)	p.S210L(1)		cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCACAAGACTCGCAGGTAAGT	0.388																																																	1	Substitution - Missense(1)	kidney(1)											93.0	94.0	93.0					5																	137213306		2203	4300	6503	SO:0001583	missense	9499			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.629C>T	5.37:g.137213306C>T	ENSP00000239926:p.Ser210Leu		A0A4R6|B4DT79	Missense_Mutation	SNP	ENST00000239926.4	37	CCDS4194.1	.	.	.	.	.	.	.	.	.	.	C	9.100	1.003884	0.19199	.	.	ENSG00000120729	ENST00000239926;ENST00000421631;ENST00000515645	T;T;T	0.68765	-0.31;-0.19;-0.35	5.7	4.83	0.62350	.	0.109441	0.40385	N	0.001117	T	0.45175	0.1329	N	0.14661	0.345	0.44424	D	0.99734	B	0.31837	0.342	B	0.17098	0.017	T	0.39187	-0.9626	10	0.15066	T	0.55	.	14.9625	0.71166	0.0:0.9312:0.0:0.0688	.	210	Q9UBF9	MYOTI_HUMAN	L	210;26;95	ENSP00000239926:S210L;ENSP00000391185:S26L;ENSP00000426281:S95L	ENSP00000239926:S210L	S	+	2	0	MYOT	137241205	0.409000	0.25368	0.989000	0.46669	0.175000	0.22909	1.831000	0.39141	1.409000	0.46915	0.591000	0.81541	TCG		0.388	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251219.2		NM_006790	
NFE2L2	4780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	178098803	178098803	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr2:178098803C>T	ENST00000397062.3	-	2	796	c.242G>A	c.(241-243)gGt>gAt	p.G81D	NFE2L2_ENST00000464747.1_Missense_Mutation_p.G65D|NFE2L2_ENST00000423513.1_Missense_Mutation_p.G65D|NFE2L2_ENST00000446151.2_Missense_Mutation_p.G65D|NFE2L2_ENST00000397063.4_Missense_Mutation_p.G65D	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	81					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G81D(5)|p.G81V(4)|p.G81_F83delGEF(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GAGAAATTCACCTGTCTCTTC	0.433			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	10	Substitution - Missense(9)|Deletion - In frame(1)	lung(4)|oesophagus(2)|liver(2)|endometrium(1)|kidney(1)											143.0	142.0	142.0					2																	178098803		1901	4105	6006	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.242G>A	2.37:g.178098803C>T	ENSP00000380252:p.Gly81Asp		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	CCDS42782.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.944073|4.944073	0.92593|0.92593	.|.	.|.	ENSG00000116044|ENSG00000116044	ENST00000449627|ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	.|T;T;T;T;T;T	.|0.51817	.|1.19;1.19;1.19;0.69;0.69;1.19	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.75110	.|0.3805	M|M	0.87180|0.87180	2.865|2.865	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	.|0.97110	.|0.999;0.999;1.0;0.999	.|T	.|0.78563	.|-0.2156	.|10	.|0.87932	.|D	.|0	.|.	19.9976|19.9976	0.97389|0.97389	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|65;65;65;81	.|E9PGJ7;B4DNB0;C9JFL6;Q16236	.|.;.;.;NF2L2_HUMAN	.|D	-1|65;81;65;65;65;65	.|ENSP00000380253:G65D;ENSP00000380252:G81D;ENSP00000411575:G65D;ENSP00000400073:G65D;ENSP00000412191:G65D;ENSP00000410015:G65D	.|ENSP00000380252:G81D	.|G	-|-	.|2	.|0	NFE2L2|NFE2L2	177807049|177807049	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.993000|0.993000	0.82548|0.82548	7.298000|7.298000	0.78815|0.78815	2.737000|2.737000	0.93849|0.93849	0.563000|0.563000	0.77884|0.77884	.|GGT		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4		NM_006164	
NAB1	4664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	191550288	191550288	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr2:191550288G>C	ENST00000337386.5	+	8	1643	c.1182G>C	c.(1180-1182)ttG>ttC	p.L394F	AC006460.2_ENST00000428032.1_RNA|NAB1_ENST00000545490.1_Missense_Mutation_p.L134F|AC006460.2_ENST00000411949.1_RNA|AC006460.2_ENST00000421437.1_RNA|NAB1_ENST00000357215.5_Missense_Mutation_p.L365F|NAB1_ENST00000409641.1_Missense_Mutation_p.L393F|NAB1_ENST00000409581.1_Missense_Mutation_p.L394F	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	394					endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L394F(1)		kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			AGAGGAGGTTGTCTGCAGGGC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											76.0	70.0	72.0					2																	191550288		2203	4300	6503	SO:0001583	missense	4664				CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"""EGR1 binding protein 1"""	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.1182G>C	2.37:g.191550288G>C	ENSP00000336894:p.Leu394Phe		O75383|O75384|Q6GTU1|Q9UEV1	Missense_Mutation	SNP	ENST00000337386.5	37	CCDS2307.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.43|10.43	1.347179|1.347179	0.24426|0.24426	.|.	.|.	ENSG00000138386|ENSG00000138386	ENST00000409581;ENST00000337386;ENST00000357215;ENST00000409641;ENST00000545490|ENST00000434473	.|.	.|.	.|.	5.28|5.28	2.46|2.46	0.29980|0.29980	Nab1, C-terminal (1);|.	0.149351|.	0.45606|.	D|.	0.000342|.	T|T	0.22282|0.22282	0.0537|0.0537	N|N	0.14661|0.14661	0.345|0.345	0.30867|0.30867	N|N	0.732923|0.732923	P;D;D|.	0.58970|.	0.95;0.984;0.984|.	P;P;P|.	0.57679|.	0.648;0.825;0.825|.	T|T	0.23154|0.23154	-1.0196|-1.0196	9|5	0.40728|.	T|.	0.16|.	-11.1684|-11.1684	3.3706|3.3706	0.07219|0.07219	0.0816:0.2623:0.408:0.248|0.0816:0.2623:0.408:0.248	.|.	365;393;394|.	F8W8J7;B8ZZS2;Q13506|.	.;.;NAB1_HUMAN|.	F|L	394;394;365;393;134|147	.|.	ENSP00000336894:L394F|.	L|V	+|+	3|1	2|0	NAB1|NAB1	191258533|191258533	0.997000|0.997000	0.39634|0.39634	0.747000|0.747000	0.31113|0.31113	0.023000|0.023000	0.10783|0.10783	0.454000|0.454000	0.21827|0.21827	0.349000|0.349000	0.23975|0.23975	-0.136000|-0.136000	0.14681|0.14681	TTG|GTC		0.488	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1		NM_005966	
NR1H4	9971	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100930297	100930297	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr12:100930297C>G	ENST00000551379.1	+	5	798	c.770C>G	c.(769-771)aCt>aGt	p.T257S	NR1H4_ENST00000549996.1_Missense_Mutation_p.T196S|NR1H4_ENST00000548884.1_Missense_Mutation_p.T243S|NR1H4_ENST00000188403.7_Missense_Mutation_p.T253S|NR1H4_ENST00000392986.3_Missense_Mutation_p.T247S			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	257	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.T243S(1)|p.T257S(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TAGGAGAAAACTGAACTCACC	0.353																																																	2	Substitution - Missense(2)	kidney(2)											54.0	51.0	52.0					12																	100930297		2203	4297	6500	SO:0001583	missense	9971			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.770C>G	12.37:g.100930297C>G	ENSP00000447149:p.Thr257Ser		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	C	7.660	0.684776	0.14973	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.92545	-2.91;-2.95;-3.06;-2.95;-2.92	5.87	3.8	0.43715	.	0.479232	0.25222	N	0.032238	T	0.78610	0.4310	N	0.11427	0.14	0.29916	N	0.823178	P;B;B;B;B	0.34800	0.469;0.002;0.185;0.116;0.003	B;B;B;B;B	0.35510	0.204;0.005;0.154;0.073;0.011	T	0.72320	-0.4329	10	0.07813	T	0.8	.	4.5621	0.12165	0.229:0.6143:0.0:0.1567	.	196;257;253;247;243	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	S	243;247;196;257;253	ENSP00000448506:T243S;ENSP00000376712:T247S;ENSP00000448978:T196S;ENSP00000447149:T257S;ENSP00000188403:T253S	ENSP00000188403:T253S	T	+	2	0	NR1H4	99454428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.579000	0.53900	1.451000	0.47736	0.591000	0.81541	ACT		0.353	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1		NM_005123	
OVGP1	5016	hgsc.bcm.edu	37	1	111957524	111957592	+	In_Frame_Del	DEL	GGTCACAGACTGATGACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	GGTCACAGACTGATGACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	-	rs61742558|rs374835032|rs12096782|rs112145355|rs113984808|rs201350653|rs375218077|rs79262073|rs201210901|rs75512011|rs1126656|rs368203827|rs150261549|rs201662631|rs376377993|rs145862799|rs45455292|rs56294468|rs74322126|rs374145757|rs140282461|rs369687480|rs386634633|rs144666939|rs551744565|rs139753199	byFrequency	TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	GGTCACAGACTGATGACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	GGTCACAGACTGATGACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr1:111957524_111957592delGGTCACAGACTGATGACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	ENST00000369732.3	-	11	1586_1654	c.1531_1599delTCTGTGGGTTATCAGTCTGTGACCCCTGGGGAAAAGACCCTGACCCCTGTGGGTCATCAGTCTGTGACC	c.(1531-1599)tctgtgggttatcagtctgtgacccctggggaaaagaccctgacccctgtgggtcatcagtctgtgaccdel	p.SVGYQSVTPGEKTLTPVGHQSVT511del		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	511				S -> P (in Ref. 2; AAB04126). {ECO:0000305}.	binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.T597_V604delTPVSHQSV(2)|p.T533_V540delTPVSHQSV(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GACTCACAGGGGTCACAGACTGATGACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGAGGTCAGGGTC	0.55																																																	4	Deletion - In frame(4)	haematopoietic_and_lymphoid_tissue(2)|stomach(2)																																								SO:0001651	inframe_deletion	5016			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1531_1599delTCTGTGGGTTATCAGTCTGTGACCCCTGGGGAAAAGACCCTGACCCCTGTGGGTCATCAGTCTGTGACC	1.37:g.111957524_111957592delGGTCACAGACTGATGACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	ENSP00000358747:p.Ser511_Thr533del		A0AV19|B9EGE1|Q15841	In_Frame_Del	DEL	ENST00000369732.3	37	CCDS834.1																																																																																				0.550	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1		NM_002557	
PDE4DIP	9659	broad.mit.edu;hgsc.bcm.edu	37	1	144865887	144865887	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr1:144865887G>C	ENST00000369354.3	-	35	5882	c.5693C>G	c.(5692-5694)cCt>cGt	p.P1898R	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.P1983R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.P1898R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.P1792R|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.P2034R|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1898					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.P1898R(3)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCAGAGCTGAGGTATGGACTC	0.458			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	3	Substitution - Missense(3)	kidney(2)|central_nervous_system(1)											275.0	286.0	283.0					1																	144865887		2203	4296	6499	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5693C>G	1.37:g.144865887G>C	ENSP00000358360:p.Pro1898Arg		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.87|14.87	2.665810|2.665810	0.47677|0.47677	.|.	.|.	ENSG00000178104|ENSG00000178104	ENST00000530130|ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	.|T;T;T;T;T	.|0.01560	.|4.77;4.89;4.89;4.87;4.89	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|.	.|.	.|.	.|.	T|T	0.01976|0.01976	0.0062|0.0062	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	.|P;P	.|0.45474	.|0.859;0.808	.|B;B	.|0.42555	.|0.316;0.391	T|T	0.57118|0.57118	-0.7866|-0.7866	5|9	.|0.66056	.|D	.|0.02	.|.	17.3704|17.3704	0.87376|0.87376	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1792;1898	.|Q5VU43-3;Q5VU43	.|.;MYOME_HUMAN	V|R	55|1792;1898;1898;1983;2034	.|ENSP00000327209:P1792R;ENSP00000358360:P1898R;ENSP00000358363:P1898R;ENSP00000435654:P1983R;ENSP00000358366:P2034R	.|ENSP00000327209:P1792R	L|P	-|-	1|2	0|0	PDE4DIP|PDE4DIP	143577244|143577244	0.610000|0.610000	0.26983|0.26983	0.880000|0.880000	0.34516|0.34516	0.112000|0.112000	0.19704|0.19704	2.243000|2.243000	0.43115|0.43115	2.695000|2.695000	0.91970|0.91970	0.650000|0.650000	0.86243|0.86243	CTC|CCT		0.458	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359	
PIGG	54872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	515604	515604	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr4:515604T>A	ENST00000453061.2	+	8	1594	c.1488T>A	c.(1486-1488)agT>agA	p.S496R	PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000536264.1_3'UTR|PIGG_ENST00000310340.5_Missense_Mutation_p.S488R|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000504346.1_Missense_Mutation_p.S407R|PIGG_ENST00000383028.4_Missense_Mutation_p.S363R|PIGG_ENST00000509768.1_Missense_Mutation_p.S407R	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	496					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.S488R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CAGCTGAAAGTTCGTGCTACT	0.552																																																	1	Substitution - Missense(1)	kidney(1)											178.0	153.0	162.0					4																	515604		2203	4300	6503	SO:0001583	missense	54872				CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.1488T>A	4.37:g.515604T>A	ENSP00000415203:p.Ser496Arg		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	ENST00000453061.2	37	CCDS46992.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.436318	0.43224	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028;ENST00000509768	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.84	-6.28	0.02020	.	0.153208	0.64402	D	0.000001	T	0.29158	0.0725	M	0.65975	2.015	0.40221	D	0.977733	B;B;B;B	0.26577	0.153;0.017;0.036;0.061	B;B;B;B	0.33254	0.16;0.01;0.022;0.048	T	0.11743	-1.0575	10	0.19147	T	0.46	.	2.3123	0.04189	0.1838:0.3146:0.0913:0.4103	.	363;407;496;488	Q5H8A4-3;D6RFE8;Q5H8A4;Q5H8A4-2	.;.;PIGG_HUMAN;.	R	488;496;407;363;407	ENSP00000311750:S488R;ENSP00000415203:S496R;ENSP00000424800:S407R;ENSP00000372494:S363R;ENSP00000421550:S407R	ENSP00000311750:S488R	S	+	3	2	PIGG	505604	0.000000	0.05858	0.001000	0.08648	0.874000	0.50279	-0.553000	0.06012	-0.851000	0.04147	-0.337000	0.08149	AGT		0.552	PIGG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357494.1		NM_017733	
POLR2H	5437	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	184082991	184082991	+	Silent	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr3:184082991C>T	ENST00000456318.1	+	4	1277	c.228C>T	c.(226-228)aaC>aaT	p.N76N	POLR2H_ENST00000452961.1_Silent_p.N40N|POLR2H_ENST00000438240.1_Silent_p.N40N|POLR2H_ENST00000429568.1_Silent_p.N76N|POLR2H_ENST00000443489.1_Silent_p.N40N|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000296223.3_Silent_p.N76N|POLR2H_ENST00000430783.1_Silent_p.N76N	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	76					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.N76N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGAATACAACCCCACTGATG	0.408																																																	1	Substitution - coding silent(1)	kidney(1)											180.0	167.0	172.0					3																	184082991		2203	4300	6503	SO:0001819	synonymous_variant	5437				CCDS3264.1, CCDS63861.1, CCDS63862.1, CCDS63859.1, CCDS63860.1	3q28	2013-01-21			ENSG00000163882	ENSG00000163882		"""RNA polymerase subunits"""	9195	protein-coding gene	gene with protein product		606023					Standard	NM_001278698		Approved	RPB8	uc003fok.2	P52434	OTTHUMG00000156746	ENST00000456318.1:c.228C>T	3.37:g.184082991C>T			C9J413|C9JBJ6|C9JCU7|C9JUA8|P53802|Q969R0	Silent	SNP	ENST00000456318.1	37	CCDS3264.1																																																																																				0.408	POLR2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345558.1		NM_006232	
PSG3	5671	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	43228148	43228148	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr19:43228148G>T	ENST00000327495.5	-	6	1457	c.1273C>A	c.(1273-1275)Ctt>Att	p.L425I	PSG3_ENST00000595140.1_Intron	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	425					defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.L425I(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AATGGATTAAGGCCAGGAAGA	0.443																																																	1	Substitution - Missense(1)	kidney(1)											142.0	132.0	135.0					19																	43228148		2203	4300	6503	SO:0001583	missense	5671				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1273C>A	19.37:g.43228148G>T	ENSP00000332215:p.Leu425Ile		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.476548	0.01035	.	.	ENSG00000221826	ENST00000327495	T	0.18960	2.18	0.738	-1.48	0.08745	.	.	.	.	.	T	0.12008	0.0292	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40683	-0.9550	8	0.11485	T	0.65	.	.	.	.	.	425	Q16557	PSG3_HUMAN	I	425	ENSP00000332215:L425I	ENSP00000332215:L425I	L	-	1	0	PSG3	47919988	0.000000	0.05858	0.003000	0.11579	0.016000	0.09150	-0.836000	0.04382	-0.418000	0.07450	-1.355000	0.01225	CTT		0.443	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2		NM_021016	
RABEP2	79874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28916276	28916276	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr16:28916276G>C	ENST00000358201.4	-	13	2286	c.1698C>G	c.(1696-1698)atC>atG	p.I566M	RABEP2_ENST00000544477.1_Missense_Mutation_p.I495M|RABEP2_ENST00000357573.6_Missense_Mutation_p.I530M	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	566					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.I566M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AGGTGTCCTTGATGTCCCTGA	0.637																																					Pancreas(66;639 1284 10093 31061 49099)												1	Substitution - Missense(1)	kidney(1)											57.0	66.0	63.0					16																	28916276		2125	4231	6356	SO:0001583	missense	79874			AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1698C>G	16.37:g.28916276G>C	ENSP00000350934:p.Ile566Met			Missense_Mutation	SNP	ENST00000358201.4	37	CCDS42140.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820477	0.32145	.	.	ENSG00000177548	ENST00000358201;ENST00000357573;ENST00000544477	T;T;T	0.51817	0.69;0.74;0.72	4.42	2.25	0.28309	.	0.390538	0.23266	N	0.050066	T	0.40522	0.1120	L	0.36672	1.1	0.27600	N	0.948994	P;P;P	0.52061	0.622;0.95;0.918	B;P;P	0.50082	0.426;0.63;0.472	T	0.28902	-1.0029	10	0.87932	D	0	-3.3826	3.9976	0.09566	0.1282:0.0:0.6188:0.253	.	495;530;566	B4DHR0;Q9H5N1-2;Q9H5N1	.;.;RABE2_HUMAN	M	566;530;495	ENSP00000350934:I566M;ENSP00000350186:I530M;ENSP00000442798:I495M	ENSP00000350186:I530M	I	-	3	3	RABEP2	28823777	0.988000	0.35896	1.000000	0.80357	0.203000	0.24098	1.017000	0.29989	1.053000	0.40415	0.436000	0.28706	ATC		0.637	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1		NM_024816	
SALL1	6299	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	51173795	51173795	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr16:51173795C>T	ENST00000251020.4	-	2	2371	c.2338G>A	c.(2338-2340)Gtc>Atc	p.V780I	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.V683I	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	780					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V780I(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGCTGCAGGACCACAGCGTTC	0.557																																					GBM(103;1352 1446 1855 4775 8890)												1	Substitution - Missense(1)	kidney(1)											96.0	98.0	97.0					16																	51173795		2198	4300	6498	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2338G>A	16.37:g.51173795C>T	ENSP00000251020:p.Val780Ile		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230101	0.79688	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.76578	-1.03;-1.03	5.02	5.02	0.67125	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.66877	0.2834	N	0.12853	0.265	0.80722	D	1	B	0.28713	0.22	B	0.36666	0.23	T	0.62784	-0.6781	10	0.18276	T	0.48	.	18.3917	0.90485	0.0:1.0:0.0:0.0	.	780	Q9NSC2	SALL1_HUMAN	I	780;683;744	ENSP00000251020:V780I;ENSP00000407914:V683I	ENSP00000251020:V780I	V	-	1	0	SALL1	49731296	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	7.818000	0.86416	2.338000	0.79540	0.298000	0.19748	GTC		0.557	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2		NM_002968	
SDHAP1	255812	broad.mit.edu	37	3	195701417	195701417	+	RNA	SNP	G	G	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr3:195701417G>C	ENST00000427841.1	-	0	1407					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TCTGATCCTGGCCATTCCCGT	0.592																																					Ovarian(67;1158 1227 12109 20189 43170)												0																																												255812			BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195701417G>C				Silent	SNP	ENST00000427841.1	37																																																																																					0.592	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			
SDK2	54549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	71357832	71357832	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr17:71357832G>T	ENST00000392650.3	-	39	5458	c.5458C>A	c.(5458-5460)Ccc>Acc	p.P1820T	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.P1801T	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1820	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.P1820T(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCTTCTCCGGGGCCCGTGGTG	0.637																																																	1	Substitution - Missense(1)	kidney(1)											95.0	77.0	83.0					17																	71357832		2203	4300	6503	SO:0001583	missense	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5458C>A	17.37:g.71357832G>T	ENSP00000376421:p.Pro1820Thr		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728516	0.89390	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.34072	1.38;1.38;1.38	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.61677	0.2366	M	0.75085	2.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.61426	-0.7065	10	0.39692	T	0.17	.	18.5556	0.91083	0.0:0.0:1.0:0.0	.	1820;1820;1801	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	T	1444;1820;1801;977;1820;161	ENSP00000376421:P1820T;ENSP00000373378:P1801T;ENSP00000407098:P977T	ENSP00000324967:P1820T	P	-	1	0	SDK2	68869427	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	9.805000	0.99149	2.369000	0.80426	0.561000	0.74099	CCC		0.637	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2		NM_019064	
NUDT5	11164	broad.mit.edu;hgsc.bcm.edu	37	10	12209851	12209851	+	Intron	SNP	G	G	A	rs374405320		TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr10:12209851G>A	ENST00000491614.1	-	10	946				SEC61A2_ENST00000304267.8_Intron|NUDT5_ENST00000378937.3_Intron|NUDT5_ENST00000537776.1_Intron|SEC61A2_ENST00000495368.1_3'UTR|NUDT5_ENST00000378952.3_Intron			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5						D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				ATGCCGTTAAGGAAGGACAAA	0.428																																																	0													71.0	64.0	67.0					10																	12209851		2203	4300	6503	SO:0001627	intron_variant	55176			AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.551-41C>T	10.37:g.12209851G>A			A8K516|Q6IAG0|Q9UH49	RNA	SNP	ENST00000491614.1	37	CCDS7089.1																																																																																				0.428	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			
SLC27A1	376497	broad.mit.edu;hgsc.bcm.edu	37	19	17611525	17611525	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr19:17611525C>G	ENST00000252595.7	+	10	1573	c.1476C>G	c.(1474-1476)gaC>gaG	p.D492E	SLC27A1_ENST00000598848.1_Intron|SLC27A1_ENST00000598424.1_Missense_Mutation_p.D313E|SLC27A1_ENST00000442725.1_Missense_Mutation_p.D492E|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	492					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.D492E(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGCCAGGTGACGTGCTAGTGA	0.657																																																	2	Substitution - Missense(2)	kidney(2)											77.0	78.0	78.0					19																	17611525		2203	4300	6503	SO:0001583	missense	376497			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1476C>G	19.37:g.17611525C>G	ENSP00000252595:p.Asp492Glu		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388768	0.61956	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	D;D	0.87887	-2.31;-2.31	4.54	-6.23	0.02052	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	H	0.98256	4.185	0.51233	D	0.999917	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93137	0.6538	10	0.87932	D	0	-13.6811	12.3645	0.55221	0.0:0.2871:0.0:0.7129	.	313;492	B7Z662;Q6PCB7	.;S27A1_HUMAN	E	492	ENSP00000413424:D492E;ENSP00000252595:D492E	ENSP00000252595:D492E	D	+	3	2	SLC27A1	17472525	0.000000	0.05858	0.856000	0.33681	0.716000	0.41182	-2.615000	0.00882	-1.144000	0.02862	-0.258000	0.10820	GAC		0.657	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1		NM_198580	
SMARCE1	6605	broad.mit.edu;hgsc.bcm.edu	37	17	38798730	38798730	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr17:38798730G>A	ENST00000348513.6	-	4	913	c.133C>T	c.(133-135)Ccg>Tcg	p.P45S	SMARCE1_ENST00000377808.4_Intron|SMARCE1_ENST00000431889.2_Missense_Mutation_p.P27S|SMARCE1_ENST00000580419.1_Intron|KRT222_ENST00000476049.1_Intron|SMARCE1_ENST00000578044.1_Intron|SMARCE1_ENST00000544009.1_Intron|SMARCE1_ENST00000400122.3_Intron|SMARCE1_ENST00000474246.1_Missense_Mutation_p.P45S	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	45	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)	p.P45S(1)		large_intestine(1)	1		Breast(137;0.000812)				TTGGTGCCCGGGTTCCCTCCC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											115.0	109.0	111.0					17																	38798730		2203	4300	6503	SO:0001583	missense	6605			AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.133C>T	17.37:g.38798730G>A	ENSP00000323967:p.Pro45Ser		B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	ENST00000348513.6	37	CCDS11370.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403224	0.25291	.	.	ENSG00000073584	ENST00000348513;ENST00000431889	T;T	0.75367	-0.93;-0.93	5.76	5.76	0.90799	.	0.112528	0.64402	D	0.000011	T	0.52821	0.1758	N	0.12182	0.205	0.80722	D	1	B;B	0.16396	0.017;0.01	B;B	0.10450	0.005;0.004	T	0.50083	-0.8869	10	0.11485	T	0.65	.	10.0936	0.42462	0.0715:0.1382:0.7903:0.0	.	45;45	Q969G3-2;Q969G3	.;SMCE1_HUMAN	S	45;27	ENSP00000323967:P45S;ENSP00000445370:P27S	ENSP00000323967:P45S	P	-	1	0	SMARCE1	36052256	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	3.972000	0.56838	2.882000	0.98803	0.655000	0.94253	CCG		0.488	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1		NM_003079	
SNAP91	9892	broad.mit.edu;ucsc.edu	37	6	84292066	84292066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr6:84292066delC	ENST00000439399.2	-	23	2340	c.2024delG	c.(2023-2025)ggtfs	p.G675fs	SNAP91_ENST00000520213.1_Frame_Shift_Del_p.G368fs|SNAP91_ENST00000369694.2_Frame_Shift_Del_p.G675fs|SNAP91_ENST00000195649.6_Frame_Shift_Del_p.G675fs|SNAP91_ENST00000437520.1_Frame_Shift_Del_p.G368fs|SNAP91_ENST00000520302.1_Frame_Shift_Del_p.G645fs|SNAP91_ENST00000428679.2_Frame_Shift_Del_p.G675fs|SNAP91_ENST00000521743.1_Frame_Shift_Del_p.G675fs|SNAP91_ENST00000521485.1_Frame_Shift_Del_p.G675fs|SNAP91_ENST00000519133.1_5'Flank	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	675					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CATGAAAGAACCCCCAAATCC	0.408																																																	0													53.0	54.0	53.0					6																	84292066		1900	4121	6021	SO:0001589	frameshift_variant	9892			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2024delG	6.37:g.84292066delC	ENSP00000400459:p.Gly675fs		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Frame_Shift_Del	DEL	ENST00000439399.2	37	CCDS47455.1																																																																																				0.408	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			
SPRY2	10253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	80911095	80911095	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr13:80911095C>T	ENST00000377102.1	-	2	1723	c.746G>A	c.(745-747)tGt>tAt	p.C249Y	SPRY2_ENST00000540649.1_Missense_Mutation_p.C249Y|SPRY2_ENST00000377104.3_Missense_Mutation_p.C249Y			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	249	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of mitotic spindle orientation (GO:0000132)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inner ear morphogenesis (GO:0042472)|lung growth (GO:0060437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|sensory perception of sound (GO:0007605)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase inhibitor activity (GO:0030291)	p.C249Y(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		TCGTGTACAACAGTGAGACTG	0.478																																																	1	Substitution - Missense(1)	kidney(1)											144.0	120.0	128.0					13																	80911095		2203	4300	6503	SO:0001583	missense	10253			AF039843	CCDS9463.1	13q31.1	2008-05-14	2001-11-28		ENSG00000136158	ENSG00000136158			11270	protein-coding gene	gene with protein product		602466	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005842		Approved	hSPRY2	uc001vlj.3	O43597	OTTHUMG00000017140	ENST00000377102.1:c.746G>A	13.37:g.80911095C>T	ENSP00000366306:p.Cys249Tyr		B2R9J9|Q5T6Z7	Missense_Mutation	SNP	ENST00000377102.1	37	CCDS9463.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782946	0.70222	.	.	ENSG00000136158	ENST00000377104;ENST00000377102;ENST00000541655;ENST00000540649	T;T;T	0.64260	-0.09;-0.09;-0.09	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.81842	0.4908	M	0.84082	2.675	0.80722	D	1	D	0.62365	0.991	D	0.77557	0.99	D	0.84097	0.0393	10	0.87932	D	0	.	19.4196	0.94715	0.0:1.0:0.0:0.0	.	249	O43597	SPY2_HUMAN	Y	249	ENSP00000366308:C249Y;ENSP00000366306:C249Y;ENSP00000439027:C249Y	ENSP00000366306:C249Y	C	-	2	0	SPRY2	79809096	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.599000	0.87857	0.561000	0.74099	TGT		0.478	SPRY2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045387.1			
SPSB1	80176	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	9415972	9415972	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr1:9415972G>A	ENST00000328089.6	+	2	363	c.22G>A	c.(22-24)Ggg>Agg	p.G8R	SPSB1_ENST00000357898.3_Missense_Mutation_p.G8R|SPSB1_ENST00000377399.2_Missense_Mutation_p.G8R	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	8					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)		p.G8R(1)		breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGTCACTGGAGGGATCAAGAC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											98.0	96.0	97.0					1																	9415972		2203	4300	6503	SO:0001583	missense	80176				CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.22G>A	1.37:g.9415972G>A	ENSP00000330221:p.Gly8Arg		A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Missense_Mutation	SNP	ENST00000328089.6	37	CCDS102.1	.	.	.	.	.	.	.	.	.	.	g	26.9	4.780110	0.90195	.	.	ENSG00000171621	ENST00000328089;ENST00000450402;ENST00000357898;ENST00000377399	T;T;T;T	0.45668	0.89;0.9;0.89;0.89	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.57621	0.2066	M	0.66939	2.045	0.80722	D	1	P	0.45715	0.865	P	0.52957	0.714	T	0.60347	-0.7281	10	0.62326	D	0.03	-9.2618	17.9821	0.89145	0.0:0.0:1.0:0.0	.	8	Q96BD6	SPSB1_HUMAN	R	8	ENSP00000330221:G8R;ENSP00000409235:G8R;ENSP00000350573:G8R;ENSP00000366616:G8R	ENSP00000330221:G8R	G	+	1	0	SPSB1	9338559	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.799000	0.99117	2.481000	0.83766	0.651000	0.88453	GGG		0.562	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003727.2		NM_025106	
SRSF4	6429	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	29481292	29481292	+	Missense_Mutation	SNP	A	A	G	rs111495066		TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr1:29481292A>G	ENST00000373795.4	-	4	728	c.494T>C	c.(493-495)gTc>gCc	p.V165A	SRSF4_ENST00000546138.1_Intron|RP11-242O24.5_ENST00000450108.1_RNA|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	165	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V165A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						TCTCCCATTGACTTCAGTTCC	0.428																																																	1	Substitution - Missense(1)	kidney(1)											120.0	120.0	120.0					1																	29481292		2203	4300	6503	SO:0001583	missense	6429			BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.494T>C	1.37:g.29481292A>G	ENSP00000362900:p.Val165Ala		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	CCDS333.1	.	.	.	.	.	.	.	.	.	.	A	33	5.194391	0.94960	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.18960	2.18	5.47	5.47	0.80525	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.172323	0.50627	D	0.000101	T	0.47229	0.1434	M	0.85299	2.745	0.80722	D	1	D	0.53462	0.96	P	0.58577	0.841	T	0.54768	-0.8244	10	0.87932	D	0	.	15.0244	0.71656	1.0:0.0:0.0:0.0	.	165	Q08170	SRSF4_HUMAN	A	165	ENSP00000362900:V165A	ENSP00000362900:V165A	V	-	2	0	SRSF4	29353879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.803000	0.91915	2.187000	0.69744	0.528000	0.53228	GTC		0.428	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1		NM_005626	
STK31	56164	broad.mit.edu	37	7	23802525	23802525	+	Missense_Mutation	SNP	C	C	T	rs199698256		TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr7:23802525C>T	ENST00000355870.3	+	11	1518	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	STK31_ENST00000354639.3_Missense_Mutation_p.R444C|STK31_ENST00000428484.1_Missense_Mutation_p.R444C|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.R467C	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	467						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.R467C(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						TCTTAATAAACGCTTAAAAAC	0.289																																																	1	Substitution - Missense(1)	kidney(1)						C	CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	65.0	65.0		1330,1399,1330	5.2	1.0	7		65	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense,missense	STK31	NM_001122833.1,NM_031414.3,NM_032944.2	180,180,180	0,2,6500	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging	444/997,467/1020,444/997	23802525	2,13002	2203	4299	6502	SO:0001583	missense	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.1399C>T	7.37:g.23802525C>T	ENSP00000348132:p.Arg467Cys		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875565	0.72180	2.27E-4	1.16E-4	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.10177	-1.0641	10	0.87932	D	0	-4.5156	17.9644	0.89096	0.0:1.0:0.0:0.0	.	467;467	B4DZ06;Q9BXU1	.;STK31_HUMAN	C	467;467;444;444	ENSP00000348132:R467C;ENSP00000411852:R467C;ENSP00000346660:R444C;ENSP00000406146:R444C	ENSP00000346660:R444C	R	+	1	0	STK31	23769050	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	4.530000	0.60595	2.610000	0.88304	0.585000	0.79938	CGC		0.289	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2		NM_031414	
SVEP1	79987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	113241933	113241933	+	Silent	SNP	C	C	T			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr9:113241933C>T	ENST00000401783.2	-	13	2805	c.2469G>A	c.(2467-2469)gaG>gaA	p.E823E	SVEP1_ENST00000302728.8_Silent_p.E823E|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Silent_p.E800E|SVEP1_ENST00000374461.1_Silent_p.E800E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	823					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.E823E(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCAGGGTCGTCTCAAATGCTT	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											251.0	242.0	244.0					9																	113241933		1849	4092	5941	SO:0001819	synonymous_variant	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2469G>A	9.37:g.113241933C>T			Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	CCDS48004.1																																																																																				0.388	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
TBC1D25	4943	broad.mit.edu;hgsc.bcm.edu	37	X	48403330	48403330	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chrX:48403330G>C	ENST00000376771.4	+	3	648	c.307G>C	c.(307-309)Gac>Cac	p.D103H	TBC1D25_ENST00000476141.1_Intron|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	103					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)	p.D103H(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ACTTCTATCTGACTGGGACCT	0.562																																																	1	Substitution - Missense(1)	kidney(1)											98.0	79.0	85.0					X																	48403330		2203	4300	6503	SO:0001583	missense	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.307G>C	X.37:g.48403330G>C	ENSP00000365962:p.Asp103His		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612632	0.87258	.	.	ENSG00000068354	ENST00000376771;ENST00000418627	T;T	0.51574	0.7;0.7	5.64	5.64	0.86602	.	0.055626	0.64402	D	0.000002	T	0.68586	0.3017	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.973;0.973;0.985	T	0.72779	-0.4190	10	0.87932	D	0	-4.3508	13.9298	0.63989	0.0:0.0:1.0:0.0	.	107;45;103	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	H	103;119	ENSP00000365962:D103H;ENSP00000402268:D119H	ENSP00000365962:D103H	D	+	1	0	TBC1D25	48288274	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.648000	0.91062	2.360000	0.80028	0.523000	0.50628	GAC		0.562	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2		NM_002536	
TCF21	6943	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	134210722	134210722	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr6:134210722C>A	ENST00000367882.4	+	1	447	c.187C>A	c.(187-189)Ccc>Acc	p.P63T	RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA|RP3-323P13.2_ENST00000607641.1_RNA|TCF21_ENST00000237316.3_Missense_Mutation_p.P63T	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	63					branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P63T(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GAGGAAGGCGCCCACCAAGAA	0.672																																																	1	Substitution - Missense(1)	kidney(1)											26.0	35.0	32.0					6																	134210722		2203	4300	6503	SO:0001583	missense	6943			AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.187C>A	6.37:g.134210722C>A	ENSP00000356857:p.Pro63Thr		E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	ENST00000367882.4	37	CCDS5167.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605575	0.28623	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.96685	-4.09;-4.09	4.79	3.9	0.45041	Helix-loop-helix DNA-binding (1);	0.149054	0.45126	D	0.000387	D	0.85106	0.5621	N	0.25647	0.755	0.40799	D	0.983328	B	0.02656	0.0	B	0.01281	0.0	T	0.78959	-0.1998	10	0.14656	T	0.56	-15.6836	9.288	0.37769	0.0:0.7726:0.1472:0.0802	.	63	O43680	TCF21_HUMAN	T	63	ENSP00000356857:P63T;ENSP00000237316:P63T	ENSP00000237316:P63T	P	+	1	0	TCF21	134252415	0.999000	0.42202	1.000000	0.80357	0.919000	0.55068	1.074000	0.30703	0.958000	0.37956	0.313000	0.20887	CCC		0.672	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042292.1		NM_198392	
TEX13A	56157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	104463697	104463697	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chrX:104463697C>A	ENST00000413579.1	-	5	1290	c.1179G>T	c.(1177-1179)agG>agT	p.R393S	IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_3'UTR|TEX13A_ENST00000372575.1_3'UTR			Q9BXU3	TX13A_HUMAN	testis expressed 13A	393							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						AGCAAGTATCCCTCCGTGAAA	0.488																																																	0													182.0	170.0	174.0					X																	104463697		2097	4205	6302	SO:0001583	missense	56157			AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.1179G>T	X.37:g.104463697C>A	ENSP00000399753:p.Arg393Ser		B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37		.	.	.	.	.	.	.	.	.	.	C	12.52	1.963858	0.34659	.	.	ENSG00000133149	ENST00000413579	D	0.83335	-1.71	3.41	1.61	0.23674	Zinc finger, RanBP2-type (4);	0.758088	0.10797	N	0.633114	D	0.90817	0.7116	M	0.93854	3.465	0.09310	N	1	D	0.63046	0.992	P	0.62491	0.903	T	0.79006	-0.1979	10	0.87932	D	0	.	4.9442	0.13982	0.0:0.7023:0.0:0.2977	.	393	Q9BXU3	TX13A_HUMAN	S	393	ENSP00000399753:R393S	ENSP00000399753:R393S	R	-	3	2	TEX13A	104350353	0.000000	0.05858	0.000000	0.03702	0.452000	0.32318	0.399000	0.20916	0.301000	0.22738	0.436000	0.28706	AGG		0.488	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_031274	
TMPRSS11D	9407	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	68719845	68719845	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr4:68719845G>A	ENST00000283916.6	-	3	288	c.190C>T	c.(190-192)Cag>Tag	p.Q64*	TMPRSS11D_ENST00000545541.1_5'UTR|TMPRSS11D_ENST00000509584.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	64	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Q64*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GAATTTAACTGACTATTATAT	0.303																																																	1	Substitution - Nonsense(1)	kidney(1)											72.0	79.0	77.0					4																	68719845		2203	4297	6500	SO:0001587	stop_gained	9407			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.190C>T	4.37:g.68719845G>A	ENSP00000283916:p.Gln64*		Q08AF6	Nonsense_Mutation	SNP	ENST00000283916.6	37	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111997	0.56398	.	.	ENSG00000153802	ENST00000283916	.	.	.	5.3	-2.8	0.05823	.	0.861997	0.09852	N	0.747406	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	11.0125	0.47671	0.0:0.5178:0.1803:0.3019	.	.	.	.	X	64	.	ENSP00000283916:Q64X	Q	-	1	0	TMPRSS11D	68402440	0.001000	0.12720	0.000000	0.03702	0.104000	0.19210	-0.020000	0.12525	-0.958000	0.03622	0.563000	0.77884	CAG		0.303	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3		NM_004262	
TNPO1	3842	broad.mit.edu;hgsc.bcm.edu	37	5	72185719	72185719	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr5:72185719C>G	ENST00000337273.5	+	14	2062	c.1636C>G	c.(1636-1638)Ctg>Gtg	p.L546V	TNPO1_ENST00000454282.1_Missense_Mutation_p.L496V|TNPO1_ENST00000523768.1_Missense_Mutation_p.L496V|TNPO1_ENST00000506351.2_Missense_Mutation_p.L538V	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	546					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.L538V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCATAAGAACCTGCTCATTCT	0.368																																																	1	Substitution - Missense(1)	kidney(1)											114.0	108.0	110.0					5																	72185719		2203	4300	6503	SO:0001583	missense	3842			U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1636C>G	5.37:g.72185719C>G	ENSP00000336712:p.Leu546Val		B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364984	0.61513	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.18	0.157	0.14915	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78654	0.4317	M	0.87617	2.895	0.80722	D	1	D;D	0.65815	0.995;0.983	P;P	0.62435	0.902;0.749	T	0.77710	-0.2486	10	0.87932	D	0	-1.7614	9.2634	0.37625	0.0:0.559:0.0:0.441	.	496;546	Q92973-3;Q92973	.;TNPO1_HUMAN	V	546;496;496;538;57	ENSP00000336712:L546V;ENSP00000398524:L496V;ENSP00000428899:L496V;ENSP00000425118:L538V	ENSP00000336712:L546V	L	+	1	2	TNPO1	72221475	0.999000	0.42202	0.993000	0.49108	0.995000	0.86356	0.919000	0.28692	-0.197000	0.10350	-0.145000	0.13849	CTG		0.368	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3		NM_002270	
TOR3A	64222	broad.mit.edu;hgsc.bcm.edu	37	1	179057211	179057211	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr1:179057211T>G	ENST00000367627.3	+	4	1557	c.805T>G	c.(805-807)Ttt>Gtt	p.F269V	TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Missense_Mutation_p.F269V	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	269					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.F269V(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						ATGGACTATCTTTCTGTTTCT	0.607																																																	1	Substitution - Missense(1)	kidney(1)											60.0	64.0	63.0					1																	179057211		2203	4300	6503	SO:0001583	missense	64222			BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.805T>G	1.37:g.179057211T>G	ENSP00000356599:p.Phe269Val		B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Missense_Mutation	SNP	ENST00000367627.3	37	CCDS1329.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.523458	0.85600	.	.	ENSG00000186283	ENST00000367627;ENST00000352445;ENST00000447595	T;T;T	0.26518	1.73;1.73;1.73	5.33	5.33	0.75918	.	0.050984	0.85682	D	0.000000	T	0.60586	0.2280	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.71510	-0.4571	10	0.87932	D	0	-11.5547	14.4846	0.67609	0.0:0.0:0.0:1.0	.	269	Q9H497	TOR3A_HUMAN	V	269;269;161	ENSP00000356599:F269V;ENSP00000335351:F269V;ENSP00000410195:F161V	ENSP00000335351:F269V	F	+	1	0	TOR3A	177323834	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	5.877000	0.69675	2.014000	0.59158	0.459000	0.35465	TTT		0.607	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1		NM_022371	
TYK2	7297	broad.mit.edu;ucsc.edu	37	19	10463680	10463680	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr19:10463680T>G	ENST00000525621.1	-	22	3603	c.3122A>C	c.(3121-3123)gAc>gCc	p.D1041A	TYK2_ENST00000524462.1_Missense_Mutation_p.D856A|TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Missense_Mutation_p.D1041A	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1041	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.D1041A(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TAGGCCAAAGTCCCCGATCTT	0.657																																																	1	Substitution - Missense(1)	kidney(1)											75.0	62.0	66.0					19																	10463680		2203	4300	6503	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.3122A>C	19.37:g.10463680T>G	ENSP00000431885:p.Asp1041Ala		Q6QB10|Q96CH0	Missense_Mutation	SNP	ENST00000525621.1	37	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	T	33	5.240521	0.95240	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529739	D;D;D;D	0.98135	-4.74;-4.74;-4.74;-4.74	5.54	5.54	0.83059	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.211651	0.30311	N	0.009909	D	0.98858	0.9614	M	0.91818	3.245	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	D	0.99701	1.1004	10	0.87932	D	0	-39.7949	13.6778	0.62465	0.0:0.0:0.0:1.0	.	1041	P29597	TYK2_HUMAN	A	856;1041;1041;788;64	ENSP00000433203:D856A;ENSP00000431885:D1041A;ENSP00000264818:D1041A;ENSP00000436155:D64A	ENSP00000264818:D1041A	D	-	2	0	TYK2	10324680	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.931000	0.87625	2.130000	0.65690	0.454000	0.30748	GAC		0.657	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			
UIMC1	51720	broad.mit.edu;hgsc.bcm.edu	37	5	176402397	176402397	+	Splice_Site	SNP	G	G	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr5:176402397G>A	ENST00000377227.4	-	3	364	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	UIMC1_ENST00000511320.1_Splice_Site_p.Q78*|UIMC1_ENST00000377219.2_Splice_Site_p.Q78*|UIMC1_ENST00000506128.1_Splice_Site_p.Q78*			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	78	Necessary for transcriptional repression.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)	p.Q78*(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAAACATACGTGCGATTTTT	0.358																																																	1	Substitution - Nonsense(1)	kidney(1)											199.0	172.0	181.0					5																	176402397		2203	4299	6502	SO:0001630	splice_region_variant	51720			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.232+1C>T	5.37:g.176402397G>A			A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Nonsense_Mutation	SNP	ENST00000377227.4	37	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358955	0.82353	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000509236;ENST00000507513	.	.	.	5.53	5.53	0.82687	.	0.107877	0.41823	D	0.000816	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.1302	17.656	0.88178	0.0:0.0:1.0:0.0	.	.	.	.	X	78	.	.	Q	-	1	0	UIMC1	176335003	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	5.690000	0.68241	2.597000	0.87782	0.563000	0.77884	CAG		0.358	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1		NM_016290	Nonsense_Mutation
VHL	7428	broad.mit.edu|broad.mit.edu;hgsc.bcm.edu	37	3	10183752	10183753	+	Missense_Mutation	DNP	TC	TC	AT	rs5030803		TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	T|C	T|C	T|.	A|.	T|.	T|.	Unknown	Valid|Untested	Somatic	Phase_I	WXS	Illumina Miseq|none			Illumina GAIIx|Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr3:10183752_10183753TC>AT	ENST00000256474.2	+	1	1061_1062	c.221_222TC>AT	c.(220-222)gTC>gAT	p.V74D	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.V74D	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	74			V -> G (in VHLD; type I-II; dbSNP:rs5030803). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.V74D(8)|p.V74A(1)|p.S72_V87>L(1)|p.P71fs*84(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.I75fs*54(1)|p.P71fs*56(1)|p.V74>?(1)|p.V74fs*77(1)|p.V74V(1)|p.V74fs*82(1)|p.V74fs*51(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCTCCCAGGTCATCTTCTGCA	0.723		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	20	Substitution - Missense(9)|Deletion - Frameshift(7)|Deletion - In frame(1)|Complex - deletion inframe(1)|Complex(1)|Substitution - coding silent(1)	kidney(19)|soft_tissue(1)	GRCh37	CM961417	VHL	M	rs5030803																																			SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	Exception_encountered	3.37:g.10183752_10183753delinsAT	ENSP00000256474:p.Val74Asp		B2RE45|Q13599|Q6PDA9	Missense_Mutation|Silent	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																				0.723	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WDR64	128025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	241875161	241875161	+	Silent	SNP	G	G	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr1:241875161G>A	ENST00000366552.2	+	8	1209	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	WDR64_ENST00000437684.2_Silent_p.K334K	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	334								p.K334K(1)|p.K54K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACTGTGTTAAGGCAAATGTGA	0.408																																																	2	Substitution - coding silent(2)	kidney(2)											117.0	108.0	111.0					1																	241875161		2203	4300	6503	SO:0001819	synonymous_variant	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1002G>A	1.37:g.241875161G>A			B1ANT0|Q7Z573|Q96LY9	Silent	SNP	ENST00000366552.2	37																																																																																					0.408	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_144625	
ZNF655	79027	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99170286	99170286	+	Silent	SNP	G	G	A			TCGA-B0-5097-01A-01D-1421-08	TCGA-B0-5097-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3af2978e-b892-4817-be05-39f020c06b5e	18771d6c-583c-4b5c-9a3f-1b5ff0c70a17	g.chr7:99170286G>A	ENST00000394163.2	+	3	738	c.555G>A	c.(553-555)caG>caA	p.Q185Q	ZNF655_ENST00000493277.1_Silent_p.Q220Q|ZNF655_ENST00000252713.4_Silent_p.Q185Q|ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000486324.1_Intron|GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000424881.1_Silent_p.Q220Q	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	185					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q185Q(1)|p.Q220Q(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AGGATTTTCAGAGTAGTGAAT	0.378																																																	2	Substitution - coding silent(2)	kidney(2)											46.0	47.0	47.0					7																	99170286		2203	4299	6502	SO:0001819	synonymous_variant	79027			AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.555G>A	7.37:g.99170286G>A			A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Silent	SNP	ENST00000394163.2	37	CCDS5669.1																																																																																				0.378	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1		NM_138494	
