#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
ADAMTSL5	339366	broad.mit.edu	37	19	1508092	1508092	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr19:1508092C>G	ENST00000413997.2	-	7	535	c.536G>C	c.(535-537)gGg>gCg	p.G179A	CTB-25B13.9_ENST00000590252.1_RNA|ADAMTSL5_ENST00000330475.4_Missense_Mutation_p.G169A|ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000395467.2_5'UTR			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	179						extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G169A(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCAACAACCCATCACAGCC	0.672																																																	1	Substitution - Missense(1)	kidney(1)											25.0	22.0	23.0					19																	1508092		2196	4295	6491	SO:0001583	missense	339366			BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain containing 6"""	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.536G>C	19.37:g.1508092C>G	ENSP00000399364:p.Gly179Ala		B4DXK7|Q8IW95	Missense_Mutation	SNP	ENST00000413997.2	37		.	.	.	.	.	.	.	.	.	.	C	10.72	1.430161	0.25726	.	.	ENSG00000185761	ENST00000413997;ENST00000330475	T;T	0.62364	0.03;0.03	4.76	3.73	0.42828	.	0.419372	0.24866	N	0.034961	T	0.57227	0.2039	M	0.82716	2.605	0.80722	D	1	B;P	0.36330	0.405;0.548	B;B	0.30401	0.073;0.115	T	0.54997	-0.8209	10	0.11182	T	0.66	.	10.5057	0.44832	0.0:0.9029:0.0:0.0971	.	179;169	B4DXK7;Q6ZMM2	.;ATL5_HUMAN	A	179;169	ENSP00000399364:G179A;ENSP00000327608:G169A	ENSP00000327608:G169A	G	-	2	0	ADAMTSL5	1459092	0.968000	0.33430	0.971000	0.41717	0.608000	0.37181	2.336000	0.43938	0.993000	0.38866	0.455000	0.32223	GGG		0.672	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding			XM_294919	
ANO8	57719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17439020	17439020	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr19:17439020G>C	ENST00000159087.4	-	13	2335	c.2177C>G	c.(2176-2178)tCg>tGg	p.S726W		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	726					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.S726W(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GAGCTGGGGCGAGTGTTCCTC	0.697																																																	1	Substitution - Missense(1)	kidney(1)											20.0	23.0	22.0					19																	17439020		2199	4299	6498	SO:0001583	missense	57719			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2177C>G	19.37:g.17439020G>C	ENSP00000159087:p.Ser726Trp		A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	G	6.323	0.427604	0.11987	.	.	ENSG00000074855	ENST00000159087	T	0.65549	-0.16	5.04	4.0	0.46444	.	0.575183	0.18228	N	0.147669	T	0.75064	0.3799	M	0.66939	2.045	0.09310	N	0.999998	D	0.89917	1.0	D	0.74348	0.983	T	0.65717	-0.6100	10	0.72032	D	0.01	.	11.1987	0.48728	0.0908:0.0:0.9092:0.0	.	726	Q9HCE9	ANO8_HUMAN	W	726	ENSP00000159087:S726W	ENSP00000159087:S726W	S	-	2	0	ANO8	17300020	0.999000	0.42202	0.049000	0.19019	0.033000	0.12548	3.526000	0.53509	1.137000	0.42214	0.491000	0.48974	TCG		0.697	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1		XM_050644	
AP3S2	10239	broad.mit.edu;ucsc.edu	37	15	90431758	90431758	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr15:90431758T>C	ENST00000336418.4	-	3	660	c.268A>G	c.(268-270)Atc>Gtc	p.I90V	AP3S2_ENST00000560940.1_Missense_Mutation_p.I90V|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.I291V|RNU6-1111P_ENST00000391118.1_RNA|AP3S2_ENST00000558011.1_Missense_Mutation_p.I90V|C15orf38-AP3S2_ENST00000560224.1_5'UTR	NM_005829.4	NP_005820.1	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2 subunit	90					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)	p.I90V(1)		NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CATACCTGGATGAGGTCCAAG	0.453																																																	1	Substitution - Missense(1)	kidney(1)											78.0	73.0	75.0					15																	90431758		2200	4299	6499	SO:0001583	missense	10239			X99459	CCDS10357.1	15q26.1	2010-08-13			ENSG00000157823	ENSG00000157823			571	protein-coding gene	gene with protein product		602416				9118953	Standard	NM_005829		Approved	sigma3b		P59780	OTTHUMG00000149811	ENST00000336418.4:c.268A>G	15.37:g.90431758T>C	ENSP00000338777:p.Ile90Val		B2R677|B4DGQ3|O09077|O09149|Q53H83|Q99589	Missense_Mutation	SNP	ENST00000336418.4	37	CCDS10357.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.913510	0.92178	.	.	ENSG00000157823;ENSG00000157823;ENSG00000250021	ENST00000336418;ENST00000423566;ENST00000398333	T;T	0.62232	0.21;0.04	5.56	5.56	0.83823	Longin-like (1);AP complex, mu/sigma subunit (1);	0.059292	0.64402	D	0.000004	T	0.77226	0.4099	M	0.86864	2.845	0.33567	D	0.598148	P;P	0.39551	0.587;0.678	P;P	0.51833	0.45;0.681	D	0.85319	0.1083	10	0.51188	T	0.08	-12.3885	13.6945	0.62569	0.0:0.0:0.0:1.0	.	291;90	E2QRD5;P59780	.;AP3S2_HUMAN	V	90;90;291	ENSP00000338777:I90V;ENSP00000381377:I291V	ENSP00000338777:I90V	I	-	1	0	C15orf38-AP3S2;AP3S2	88232762	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.435000	0.80391	2.330000	0.79161	0.533000	0.62120	ATC		0.453	AP3S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313422.1			
ARID2	196528	hgsc.bcm.edu	37	12	46123828	46123828	+	Splice_Site	SNP	T	T	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr12:46123828T>A	ENST00000334344.6	+	2	266	c.94T>A	c.(94-96)Tcg>Acg	p.S32T	ARID2_ENST00000422737.1_5'UTR|LINC00938_ENST00000609803.1_lincRNA	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	32	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S32T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTCCCGCAGGTCGCCTTTTAA	0.657			"""N, S, F"""		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Substitution - Missense(1)	kidney(1)											50.0	52.0	51.0					12																	46123828		2202	4300	6502	SO:0001630	splice_region_variant	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.93-1T>A	12.37:g.46123828T>A			Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	T	3.016	-0.202778	0.06219	.	.	ENSG00000189079	ENST00000334344	T	0.61980	0.06	2.42	1.0	0.19881	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.53938	U	0.000057	T	0.46639	0.1403	N	0.04260	-0.245	0.80722	D	1	D	0.57257	0.979	D	0.71414	0.973	T	0.52793	-0.8528	10	0.02654	T	1	.	6.8215	0.23859	0.2083:0.0:0.0:0.7917	.	32	Q68CP9	ARID2_HUMAN	T	32	ENSP00000335044:S32T	ENSP00000335044:S32T	S	+	1	0	ARID2	44410095	1.000000	0.71417	0.998000	0.56505	0.511000	0.34104	3.431000	0.52814	0.719000	0.32188	0.156000	0.16432	TCG		0.657	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		XM_350875	Missense_Mutation
ARSD	414	hgsc.bcm.edu	37	X	2835999	2836007	+	In_Frame_Del	DEL	CCACGCCGG	CCACGCCGG	-	rs113556864|rs190767292		TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	CCACGCCGG	CCACGCCGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chrX:2835999_2836007delCCACGCCGG	ENST00000381154.1	-	5	776_784	c.701_709delCCGGCGTGG	c.(700-711)gccggcgtgggc>ggc	p.AGV234del	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	234					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AACAGGCAGCCCACGCCGGCCATGCCGGT	0.593																																																	0										451,3270		0,2,449,1590,88						-6.3	0.0		dbSNP_132	32	1416,5068		2,4,1408,2351,362	no	coding	ARSD	NM_001669.3		2,6,1857,3941,450	A1A1,A1R,A1,RR,R		21.8384,12.1204,18.295				1867,8338				SO:0001651	inframe_deletion	414			X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.701_709delCCGGCGTGG	X.37:g.2835999_2836007delCCACGCCGG	ENSP00000370546:p.Ala234_Val236del		Q9UHJ8	In_Frame_Del	DEL	ENST00000381154.1	37	CCDS35196.1																																																																																				0.593	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			
NATD1	256302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	21146678	21146678	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr17:21146678T>A	ENST00000399011.2	-	4	288	c.287A>T	c.(286-288)aAg>aTg	p.K96M	C17orf103_ENST00000468196.1_3'UTR	NM_152914.2	NP_690878.2	Q8N6N6	NATD1_HUMAN		97	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.							p.K96M(1)|p.K97*(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						CTTGACGTACTTCTGGATGTA	0.667																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	kidney(2)											46.0	52.0	50.0					17																	21146678		1968	4141	6109	SO:0001583	missense	256302																														ENST00000399011.2:c.287A>T	17.37:g.21146678T>A	ENSP00000454565:p.Lys96Met		A8MWQ7|B3KX70	Missense_Mutation	SNP	ENST00000399011.2	37																																																																																					0.667	C17orf103-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				
C2orf44	80304	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	24261024	24261024	+	Silent	SNP	G	G	C			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr2:24261024G>C	ENST00000295148.4	-	2	1398	c.1341C>G	c.(1339-1341)acC>acG	p.T447T	C2orf44_ENST00000406895.3_Silent_p.T447T	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	447								p.T447T(1)	C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGTAGAGTAGGTAGTCTGGC	0.363			T	ALK	NSCLC																																			Dom	yes		2	2p23.3	80304	chromosome 2 open reading frame 44		E	1	Substitution - coding silent(1)	kidney(1)											108.0	114.0	112.0					2																	24261024		2203	4300	6503	SO:0001819	synonymous_variant	80304			AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.1341C>G	2.37:g.24261024G>C			D6W532|Q8IYK0|Q9HBP5	Silent	SNP	ENST00000295148.4	37	CCDS1705.1																																																																																				0.363	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1		NM_025203	
CACNA1C	775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	2711091	2711091	+	Silent	SNP	G	G	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr12:2711091G>T	ENST00000347598.4	+	23	2985	c.2985G>T	c.(2983-2985)ctG>ctT	p.L995L	CACNA1C_ENST00000399597.1_Silent_p.L975L|CACNA1C_ENST00000399638.1_Silent_p.L975L|CACNA1C_ENST00000480911.1_Silent_p.L975L|CACNA1C_ENST00000399634.1_Silent_p.L975L|CACNA1C_ENST00000399621.1_Silent_p.L975L|CACNA1C_ENST00000399591.1_Silent_p.L975L|CACNA1C_ENST00000399617.1_Silent_p.L975L|CACNA1C_ENST00000399641.1_Silent_p.L975L|CACNA1C_ENST00000399644.1_Silent_p.L975L|CACNA1C_ENST00000335762.5_Silent_p.L1000L|CACNA1C_ENST00000406454.3_Silent_p.L975L|CACNA1C_ENST00000399601.1_Silent_p.L975L|CACNA1C_ENST00000402845.3_Silent_p.L975L|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000344100.3_Silent_p.L975L|CACNA1C_ENST00000399655.1_Silent_p.L975L|CACNA1C_ENST00000399637.1_Silent_p.L975L|CACNA1C_ENST00000327702.7_Silent_p.L975L|CACNA1C_ENST00000399603.1_Silent_p.L975L|CACNA1C_ENST00000399649.1_Silent_p.L975L|CACNA1C_ENST00000399629.1_Silent_p.L975L|CACNA1C_ENST00000399606.1_Silent_p.L995L|CACNA1C_ENST00000399595.1_Silent_p.L975L	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	995					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L975L(2)|p.L995L(1)|p.L1025L(1)|p.L510L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGACCTGCTGGTGGTCAGCG	0.572																																																	5	Substitution - coding silent(5)	kidney(5)											134.0	135.0	134.0					12																	2711091		2203	4300	6503	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2985G>T	12.37:g.2711091G>T			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	CCDS44788.1																																																																																				0.572	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719	
CASP10	843	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	202050621	202050621	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr2:202050621delT	ENST00000272879.5	+	2	305	c.121delT	c.(121-123)tttfs	p.F41fs	CASP10_ENST00000286186.6_Frame_Shift_Del_p.F41fs|CASP10_ENST00000374650.3_Frame_Shift_Del_p.F41fs|CASP10_ENST00000346817.5_Frame_Shift_Del_p.F41fs|CASP10_ENST00000360132.3_Frame_Shift_Del_p.F41fs|CASP10_ENST00000313728.7_Frame_Shift_Del_p.F41fs|CASP10_ENST00000448480.1_Frame_Shift_Del_p.F41fs|CASP10_ENST00000492363.1_3'UTR	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	41	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GAACCTCAAGTTTCTCTGCAT	0.448																																																	0													59.0	61.0	61.0					2																	202050621		2203	4300	6503	SO:0001589	frameshift_variant	843			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.121delT	2.37:g.202050621delT	ENSP00000272879:p.Phe41fs		Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Frame_Shift_Del	DEL	ENST00000272879.5	37	CCDS2338.1																																																																																				0.448	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1		NM_032977	
CLIC6	54102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	36081739	36081739	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr21:36081739G>C	ENST00000360731.3	+	6	1856	c.1856G>C	c.(1855-1857)aGc>aCc	p.S619T	CLIC6_ENST00000349499.2_Missense_Mutation_p.S601T			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	619	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)	p.S601T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GATGCCTACAGCACCGAGGAT	0.468																																																	1	Substitution - Missense(1)	kidney(1)											116.0	107.0	110.0					21																	36081739		2203	4300	6503	SO:0001583	missense	54102			AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1856G>C	21.37:g.36081739G>C	ENSP00000353959:p.Ser619Thr		A8K0U8|Q8IX31	Missense_Mutation	SNP	ENST00000360731.3	37		.	.	.	.	.	.	.	.	.	.	G	14.15	2.448129	0.43429	.	.	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.93906	-3.31;-3.31	6.17	6.17	0.99709	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.146348	0.64402	D	0.000012	D	0.96002	0.8698	L	0.56396	1.775	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.68483	0.937;0.958	D	0.94526	0.7731	10	0.41790	T	0.15	-1.401	20.8794	0.99867	0.0:0.0:1.0:0.0	.	619;601	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	T	619;601	ENSP00000353959:S619T;ENSP00000290332:S601T	ENSP00000290332:S601T	S	+	2	0	CLIC6	35003609	1.000000	0.71417	0.905000	0.35620	0.311000	0.27955	4.078000	0.57606	2.941000	0.99782	0.655000	0.94253	AGC		0.468	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000194156.1			
CRIPAK	285464	hgsc.bcm.edu	37	4	1389125	1389125	+	Missense_Mutation	SNP	T	T	C	rs146490783	byFrequency	TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr4:1389125T>C	ENST00000324803.4	+	1	3786	c.826T>C	c.(826-828)Tgt>Cgt	p.C276R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	276					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CACGTGCCGATGTGGGGTGCC	0.677																																																	0								-	ARG/CYS	40,4364		0,40,2162	151.0	140.0	144.0		826	-1.2	0.0	4	dbSNP_134	144	141,8457		1,139,4159	no	missense	CRIPAK	NM_175918.3	180	1,179,6321	CC,CT,TT		1.6399,0.9083,1.3921	benign	276/447	1389125	181,12821	2202	4299	6501	SO:0001583	missense	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.826T>C	4.37:g.1389125T>C	ENSP00000323978:p.Cys276Arg		Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	6.060	0.379397	0.11466	0.009083	0.016399	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.21191	2.02	0.578	-1.16	0.09678	Post-SET domain (1);	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	P	0.46020	0.871	B	0.34824	0.19	T	0.21415	-1.0246	9	0.72032	D	0.01	.	4.2806	0.10831	0.0:0.2695:0.0:0.7305	.	276	Q8N1N5	CRPAK_HUMAN	R	276;218	ENSP00000323978:C276R	ENSP00000323978:C276R	C	+	1	0	CRIPAK	1379125	0.049000	0.20398	0.000000	0.03702	0.001000	0.01503	-0.006000	0.12833	-0.417000	0.07461	-0.542000	0.04241	TGT		0.677	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2		NM_175918	
DNAJC21	134218	hgsc.bcm.edu;ucsc.edu	37	5	34935891	34935892	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	CG	CG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr5:34935891_34935892delCG	ENST00000342382.4	+	3	495_496	c.268_269delCG	c.(268-270)cgcfs	p.R90fs	DNAJC21_ENST00000303525.7_Frame_Shift_Del_p.R90fs|DNAJC21_ENST00000382021.2_Frame_Shift_Del_p.R90fs			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	90					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AGATTTGCTACGCTATTTCACC	0.361																																																	0																																										SO:0001589	frameshift_variant	134218				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.268_269delCG	5.37:g.34935891_34935892delCG	ENSP00000343728:p.Arg90fs		Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Frame_Shift_Del	DEL	ENST00000342382.4	37	CCDS34144.1																																																																																				0.361	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1		NM_194283	
DOCK10	55619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	225710302	225710302	+	Missense_Mutation	SNP	A	A	C	rs372387177		TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr2:225710302A>C	ENST00000258390.7	-	20	2360	c.2293T>G	c.(2293-2295)Tat>Gat	p.Y765D	DOCK10_ENST00000409592.3_Missense_Mutation_p.Y759D	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	765	DHR-1.				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.Y765D(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)		GTGACGTGATAAAAAGAAAAC	0.403																																																	1	Substitution - Missense(1)	kidney(1)											144.0	135.0	138.0					2																	225710302		1862	4103	5965	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.2293T>G	2.37:g.225710302A>C	ENSP00000258390:p.Tyr765Asp		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.669257	0.67814	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.15017	2.46;2.46	5.43	3.06	0.35304	.	0.120188	0.64402	D	0.000018	T	0.37433	0.1003	M	0.90977	3.165	0.45676	D	0.998596	P;P	0.51653	0.947;0.848	P;P	0.52909	0.711;0.713	T	0.28522	-1.0041	10	0.87932	D	0	.	8.3021	0.32021	0.784:0.0:0.216:0.0	.	765;759	Q96BY6;B3FL70	DOC10_HUMAN;.	D	759;765	ENSP00000386694:Y759D;ENSP00000258390:Y765D	ENSP00000258390:Y765D	Y	-	1	0	DOCK10	225418546	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	4.321000	0.59209	0.369000	0.24510	-0.264000	0.10439	TAT		0.403	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			
DOK7	285489	broad.mit.edu	37	4	3494670	3494671	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr4:3494670_3494671insA	ENST00000340083.5	+	7	1022_1023	c.957_958insA	c.(958-960)aagfs	p.K320fs	DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000389653.2_Frame_Shift_Ins_p.K320fs|DOK7_ENST00000512714.1_3'UTR	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	320	Ser-rich.				neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCCACCCCCCAAGCCGCTGCG	0.688																																																	0									,	350,3410		47,256,1577					,	-1.8	0.0			6	591,6803		70,451,3176	no	frameshift,utr-3	DOK7	NM_173660.4,NM_001164673.1	,	117,707,4753	A1A1,A1R,RR		7.993,9.3085,8.4364	,	,		941,10213				SO:0001589	frameshift_variant	285489			AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.959dupA	4.37:g.3494672_3494672dupA	ENSP00000344432:p.Lys320fs		A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Frame_Shift_Ins	INS	ENST00000340083.5	37	CCDS3370.2																																																																																				0.688	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1		NM_173660	
EIF2S2	8894	broad.mit.edu	37	20	32699916	32699916	+	Start_Codon_SNP	SNP	T	T	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr20:32699916T>A	ENST00000374980.2	-	1	222	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	1					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|male germ cell proliferation (GO:0002176)|male gonad development (GO:0008584)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.M1L(1)|p.?(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						TCCCCAGACATGGCTGCGGCT	0.682																																																	2	Substitution - Missense(1)|Unknown(1)	kidney(2)											29.0	21.0	24.0					20																	32699916		2197	4294	6491	SO:0001582	initiator_codon_variant	8894			M29536	CCDS13231.1	20q11.2	2012-04-17	2002-08-29		ENSG00000125977	ENSG00000125977		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	3266	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 67"""	603908	"""eukaryotic translation initiation factor 2, subunit 2 (beta, 38kD )"""	EIF2		3044606	Standard	XM_005260605		Approved	EIF2beta, PPP1R67	uc031rsu.1	P20042	OTTHUMG00000032287	ENST00000374980.2:c.1A>T	20.37:g.32699916T>A	ENSP00000364119:p.Met1Leu		Q9BVU0|Q9UJE4	Missense_Mutation	SNP	ENST00000374980.2	37	CCDS13231.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.594791	0.66219	.	.	ENSG00000125977	ENST00000374980	T	0.41400	1.0	5.47	5.47	0.80525	.	0.042909	0.85682	D	0.000000	T	0.47229	0.1434	.	.	.	0.20196	N	0.99992	B;B	0.22080	0.006;0.064	B;B	0.38194	0.039;0.267	T	0.52230	-0.8603	9	0.87932	D	0	-38.0544	15.2086	0.73198	0.0:0.0:0.0:1.0	.	1;1	Q6IBR8;P20042	.;IF2B_HUMAN	L	1	ENSP00000364119:M1L	ENSP00000364119:M1L	M	-	1	0	EIF2S2	32163577	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	4.574000	0.60900	2.071000	0.62044	0.402000	0.26972	ATG		0.682	EIF2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078765.2		NM_003908	Missense_Mutation
GPR123	84435	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	134910562	134910562	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr10:134910562C>T	ENST00000392607.3	+	3	524	c.88C>T	c.(88-90)Ctc>Ttc	p.L30F	GPR123_ENST00000607359.1_Missense_Mutation_p.L750F	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	30					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L30F(1)|p.L750F(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGTCATGCTGCTCTGCCTCCT	0.612																																																	2	Substitution - Missense(2)	kidney(2)											151.0	116.0	128.0					10																	134910562		2203	4300	6503	SO:0001583	missense	84435			AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.88C>T	10.37:g.134910562C>T	ENSP00000376384:p.Leu30Phe		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158554	0.57368	.	.	ENSG00000197177	ENST00000368577;ENST00000392609;ENST00000392607	T	0.39787	1.06	3.85	3.85	0.44370	GPCR, family 2-like (1);	0.330102	0.20831	N	0.084884	T	0.52338	0.1728	M	0.74881	2.28	0.80722	D	1	B;P	0.41345	0.201;0.746	B;P	0.51170	0.236;0.661	T	0.55872	-0.8072	10	0.62326	D	0.03	-21.8247	7.7121	0.28684	0.0:0.8809:0.0:0.1191	.	30;750	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	F	750;750;30	ENSP00000376384:L30F	ENSP00000357566:L750F	L	+	1	0	GPR123	134760552	1.000000	0.71417	0.994000	0.49952	0.894000	0.52154	2.077000	0.41557	1.892000	0.54788	0.436000	0.28706	CTC		0.612	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			
HOXB3	3213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	46628008	46628008	+	Silent	SNP	C	C	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr17:46628008C>T	ENST00000470495.1	-	2	2431	c.984G>A	c.(982-984)gaG>gaA	p.E328E	HOXB3_ENST00000485909.2_Silent_p.E196E|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000498678.1_Silent_p.E328E|HOXB3_ENST00000472863.1_Silent_p.E255E|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000489475.1_Silent_p.E255E|HOXB3_ENST00000490677.1_Silent_p.E194E|HOXB3_ENST00000476342.1_Silent_p.E328E|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000311626.4_Silent_p.E328E|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Silent_p.E196E			P14651	HXB3_HUMAN	homeobox B3	328					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E328E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GCGGCTCATACTCGGGCGCCG	0.701											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											23.0	31.0	28.0					17																	46628008		2197	4292	6489	SO:0001819	synonymous_variant	3213				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.984G>A	17.37:g.46628008C>T		940	A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	ENST00000470495.1	37	CCDS11528.1																																																																																				0.701	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			
IPO4	79711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24655987	24655987	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr14:24655987T>G	ENST00000354464.6	-	9	943	c.767A>C	c.(766-768)aAt>aCt	p.N256T	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	256					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)		p.N256T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGGGCCACATTTCTAGCTAC	0.512																																																	1	Substitution - Missense(1)	kidney(1)											89.0	92.0	91.0					14																	24655987		2050	4209	6259	SO:0001583	missense	79711			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.767A>C	14.37:g.24655987T>G	ENSP00000346453:p.Asn256Thr		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	T	8.981	0.975388	0.18736	.	.	ENSG00000196497	ENST00000354464	T	0.05717	3.4	4.96	3.74	0.42951	Armadillo-like helical (1);Armadillo-type fold (1);	0.122836	0.53938	D	0.000049	T	0.04543	0.0124	N	0.19112	0.55	0.36731	D	0.881709	P	0.41232	0.743	B	0.37833	0.259	T	0.52434	-0.8576	10	0.31617	T	0.26	-23.6676	11.4961	0.50408	0.0:0.0:0.1492:0.8507	.	256	Q8TEX9	IPO4_HUMAN	T	256	ENSP00000346453:N256T	ENSP00000346453:N256T	N	-	2	0	IPO4	23725827	0.994000	0.37717	0.105000	0.21289	0.177000	0.22998	4.388000	0.59633	2.207000	0.71202	0.533000	0.62120	AAT		0.512	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4		NM_024658	
IPP	3652	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	46184982	46184983	+	Missense_Mutation	DNP	GT	GT	CA			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr1:46184982_46184983GT>CA	ENST00000396478.3	-	6	1180_1181	c.1078_1079AC>TG	c.(1078-1080)ACt>TGt	p.T360C		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	360						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.T360S(2)|p.T360C(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					ATAGCATTCAGTACAATCAAAA	0.371																																																	3	Substitution - Missense(3)	kidney(3)																																								SO:0001583	missense	3652			BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1078_1079delinsCA	1.37:g.46184982_46184983delinsCA	ENSP00000379739:p.Thr360Cys		A2A6V4|D3DQ11|Q8N5C3	Missense_Mutation	SNP	ENST00000396478.3	37	CCDS30702.1																																																																																				0.371	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3		NM_005897	
VWA8	23078	hgsc.bcm.edu;ucsc.edu	37	13	42461418	42461428	+	Frame_Shift_Del	DEL	GGCAAGCCCAA	GGCAAGCCCAA	-			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	GGCAAGCCCAA	GGCAAGCCCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr13:42461418_42461428delGGCAAGCCCAA	ENST00000379310.3	-	6	789_799	c.721_731delTTGGGCTTGCC	c.(721-732)ttgggcttgccafs	p.LGLP241fs	VWA8_ENST00000281496.6_Frame_Shift_Del_p.LGLP241fs	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	241						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CCTTGGCACTGGCAAGCCCAAGGCAATCACT	0.417																																																	0																																										SO:0001589	frameshift_variant	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.721_731delTTGGGCTTGCC	13.37:g.42461418_42461428delGGCAAGCCCAA	ENSP00000368612:p.Leu241fs		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Frame_Shift_Del	DEL	ENST00000379310.3	37	CCDS41881.1																																																																																				0.417	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2		NM_015058	
KIF2A	3796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	61677018	61677018	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr5:61677018C>T	ENST00000401507.3	+	19	2284	c.1973C>T	c.(1972-1974)tCa>tTa	p.S658L	KIF2A_ENST00000407818.3_Missense_Mutation_p.S696L|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000506857.1_Missense_Mutation_p.S612L|KIF2A_ENST00000381103.2_Missense_Mutation_p.S638L	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	658					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.S631L(1)|p.S696L(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GATGTCGATTCATATGCTACA	0.343																																																	2	Substitution - Missense(2)	kidney(2)											166.0	179.0	175.0					5																	61677018		2203	4300	6503	SO:0001583	missense	3796			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.1973C>T	5.37:g.61677018C>T	ENSP00000385622:p.Ser658Leu		A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	ENST00000401507.3	37	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372915	0.61624	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000407818;ENST00000506857	T;T;T;T	0.73789	-0.64;-0.63;-0.78;-0.64	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.58779	0.2146	N	0.08118	0	0.80722	D	1	B;B;B;B	0.25521	0.032;0.055;0.128;0.001	B;B;B;B	0.24701	0.025;0.055;0.043;0.004	T	0.54450	-0.8292	10	0.19590	T	0.45	.	20.2182	0.98305	0.0:1.0:0.0:0.0	.	696;696;658;638	B4DM85;O00139-4;O00139;E9PB70	.;.;KIF2A_HUMAN;.	L	658;638;696;612	ENSP00000385622:S658L;ENSP00000370493:S638L;ENSP00000385000:S696L;ENSP00000423772:S612L	ENSP00000370493:S638L	S	+	2	0	KIF2A	61712775	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.785000	0.95823	0.655000	0.94253	TCA		0.343	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1		NM_004520	
LIPI	149998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	15561671	15561671	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr21:15561671G>A	ENST00000536861.1	-	2	115	c.116C>T	c.(115-117)cCg>cTg	p.P39L	LIPI_ENST00000344577.2_Missense_Mutation_p.P60L			Q6XZB0	LIPI_HUMAN	lipase, member I	39					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.P60L(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CTCTATTCTCGGAATAAATAA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											93.0	95.0	94.0					21																	15561671		2203	4300	6503	SO:0001583	missense	149998			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.116C>T	21.37:g.15561671G>A	ENSP00000440381:p.Pro39Leu		G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37		.	.	.	.	.	.	.	.	.	.	G	12.54	1.968873	0.34754	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.90324	-2.65;-2.65	5.3	4.39	0.52855	.	0.791124	0.10628	N	0.652514	D	0.92691	0.7677	M	0.73319	2.225	0.09310	N	1	D	0.54601	0.967	P	0.50860	0.652	D	0.84868	0.0823	10	0.45353	T	0.12	.	15.0753	0.72071	0.0:0.0:0.8568:0.1432	.	60	Q6XZB0-2	.	L	60;39	ENSP00000343331:P60L;ENSP00000440381:P39L	ENSP00000343331:P60L	P	-	2	0	LIPI	14483542	0.998000	0.40836	0.038000	0.18304	0.234000	0.25298	5.490000	0.66881	1.329000	0.45376	0.655000	0.94253	CCG		0.343	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_198996	
MIR205HG	642587	broad.mit.edu	37	1	209605623	209605623	+	lincRNA	SNP	G	G	A	rs12407854		TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr1:209605623G>A	ENST00000384891.1	+	0	220					NR_029622.1				MIR205 host gene (non-protein coding)																		caccaccgccgccgccaccac	0.577																																																	0													17.0	17.0	17.0					1																	209605623		2112	4182	6294			0					1q32.2	2014-02-12	2011-11-07		ENSG00000230937	ENSG00000230937		"""Long non-coding RNAs"""	43562	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 510"""						Standard	NM_001104548		Approved	LINC00510	uc009xcn.3		OTTHUMG00000036267		1.37:g.209605623G>A				Missense_Mutation	SNP	ENST00000384891.1	37																																																																																					0.577	MIR205HG-202	KNOWN	basic	miRNA	lincRNA				
MADCAM1	8174	hgsc.bcm.edu	37	19	501762	501762	+	Missense_Mutation	SNP	A	A	C	rs200007467		TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr19:501762A>C	ENST00000215637.3	+	4	807	c.761A>C	c.(760-762)cAg>cCg	p.Q254P	MADCAM1_ENST00000346144.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000587541.1_Missense_Mutation_p.Q35P|MADCAM1_ENST00000382683.4_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	254	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.			Q -> P (in Ref. 1; AAC13661). {ECO:0000305}.	aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)	p.Q254P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACCTCCCAGGAGCCTCCC	0.721																																																	1	Substitution - Missense(1)	kidney(1)											31.0	36.0	34.0					19																	501762		2194	4290	6484	SO:0001583	missense	8174			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.761A>C	19.37:g.501762A>C	ENSP00000215637:p.Gln254Pro		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	N	5.739	0.320845	0.10845	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.09073	3.02	2.86	-5.72	0.02406	.	.	.	.	.	T	0.01940	0.0061	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40869	-0.9540	9	0.02654	T	1	.	3.6031	0.08032	0.3032:0.5048:0.0:0.192	.	254	Q13477	MADCA_HUMAN	P	278;270;262;254	ENSP00000215637:Q254P	ENSP00000215637:Q254P	Q	+	2	0	MADCAM1	452762	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.356000	0.00247	-1.159000	0.02807	-1.988000	0.00451	CAG		0.721	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1		NM_130760	
MYO9B	4650	broad.mit.edu	37	19	17306197	17306197	+	Missense_Mutation	SNP	G	G	A	rs374157748		TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr19:17306197G>A	ENST00000594824.1	+	22	4108	c.3961G>A	c.(3961-3963)Gcc>Acc	p.A1321T	MYO9B_ENST00000397274.2_Missense_Mutation_p.A1321T|MYO9B_ENST00000595618.1_Missense_Mutation_p.A1321T			Q13459	MYO9B_HUMAN	myosin IXB	1321	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.A1321T(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCTGGTGGCCGCCGCCAGCCC	0.716																																																	2	Substitution - Missense(2)	kidney(2)						G	THR/ALA,THR/ALA	0,3848		0,0,1924	8.0	12.0	11.0		3961,3961	-2.7	0.0	19		11	1,8105		0,1,4052	no	missense,missense	MYO9B	NM_001130065.1,NM_004145.3	58,58	0,1,5976	AA,AG,GG		0.0123,0.0,0.0084	benign,benign	1321/2023,1321/2158	17306197	1,11953	1924	4053	5977	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3961G>A	19.37:g.17306197G>A	ENSP00000471367:p.Ala1321Thr		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		.	.	.	.	.	.	.	.	.	.	G	9.505	1.104290	0.20632	0.0	1.23E-4	ENSG00000099331	ENST00000397274	D	0.84298	-1.83	4.8	-2.7	0.06004	.	0.917773	0.09081	N	0.851247	T	0.67107	0.2858	N	0.10809	0.05	0.09310	N	1	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.06405	0.002;0.002;0.002	T	0.50651	-0.8803	10	0.13470	T	0.59	.	9.8074	0.40801	0.4528:0.0:0.5472:0.0	.	1321;1321;1327	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	T	1321	ENSP00000380444:A1321T	ENSP00000380444:A1321T	A	+	1	0	MYO9B	17167197	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.721000	0.04963	-0.725000	0.04901	-1.449000	0.01048	GCC		0.716	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			
NCOA4	8031	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	51582253	51582253	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr10:51582253G>A	ENST00000443446.1	+	6	780	c.551G>A	c.(550-552)tGt>tAt	p.C184Y	NCOA4_ENST00000438493.1_Missense_Mutation_p.C200Y|NCOA4_ENST00000430396.2_Missense_Mutation_p.C84Y|NCOA4_ENST00000452682.1_Missense_Mutation_p.C200Y|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000344348.6_Missense_Mutation_p.C184Y|NCOA4_ENST00000414907.2_Missense_Mutation_p.C18Y|NCOA4_ENST00000374087.4_Missense_Mutation_p.C184Y|NCOA4_ENST00000374082.1_Missense_Mutation_p.C184Y	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	184					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)	p.C200Y(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AAGAGAGGCTGTATCTCCATG	0.353			T	RET	papillary thyroid																																			Dom	yes		10	10q11.2	8031	nuclear receptor coactivator 4 - PTC3 (ELE1)		E	1	Substitution - Missense(1)	kidney(1)											106.0	104.0	105.0					10																	51582253		2203	4300	6503	SO:0001583	missense	8031			L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.551G>A	10.37:g.51582253G>A	ENSP00000390713:p.Cys184Tyr		A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	CCDS7237.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.538912	0.00143	.	.	ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000330923;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446	T;T;T;T;T;T;T;T	0.21734	2.56;2.55;2.29;2.56;1.99;2.56;2.28;2.56	5.87	-8.19	0.01049	.	1.641800	0.02578	N	0.098536	T	0.04907	0.0132	N	0.01289	-0.905	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.33624	-0.9861	10	0.02654	T	1	-18.8641	6.003	0.19531	0.302:0.1075:0.4852:0.1052	.	84;200;200;184	B4DF87;B4E260;E9PAV7;Q13772	.;.;.;NCOA4_HUMAN	Y	200;200;84;184;184;18;184;184;184	ENSP00000405146:C200Y;ENSP00000395465:C200Y;ENSP00000393053:C84Y;ENSP00000363200:C184Y;ENSP00000411018:C18Y;ENSP00000344552:C184Y;ENSP00000363195:C184Y;ENSP00000390713:C184Y	ENSP00000332421:C184Y	C	+	2	0	NCOA4	51252259	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.150000	0.10189	-1.287000	0.02381	-1.021000	0.02439	TGT		0.353	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1		NM_005437	
NIPAL3	57185	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	24766690	24766690	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr1:24766690T>A	ENST00000374399.4	+	3	490	c.122T>A	c.(121-123)aTc>aAc	p.I41N	NIPAL3_ENST00000358028.4_Missense_Mutation_p.I41N|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000428131.1_Missense_Mutation_p.I41N|NIPAL3_ENST00000339255.2_Missense_Mutation_p.I41N	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	41						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.I41N(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						CTCTTGGCGATCTTCGGGCAC	0.542																																																	1	Substitution - Missense(1)	kidney(1)											106.0	93.0	97.0					1																	24766690		2203	4300	6503	SO:0001583	missense	57185			BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.122T>A	1.37:g.24766690T>A	ENSP00000363520:p.Ile41Asn		A2A298|Q6MZT9|Q9BVE6	Missense_Mutation	SNP	ENST00000374399.4	37	CCDS30631.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471997	0.63737	.	.	ENSG00000001461	ENST00000374399;ENST00000358028;ENST00000339255;ENST00000428131	D;D;D;D	0.92048	-2.96;-2.96;-2.96;-2.96	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.96194	0.8759	M	0.85630	2.765	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.96873	0.9641	10	0.87932	D	0	-15.5	14.6822	0.69026	0.0:0.0:0.0:1.0	.	41;41;41	Q6P499-3;Q6P499;A6NN97	.;NPAL3_HUMAN;.	N	41	ENSP00000363520:I41N;ENSP00000350722:I41N;ENSP00000343549:I41N;ENSP00000406509:I41N	ENSP00000343549:I41N	I	+	2	0	NIPAL3	24639277	1.000000	0.71417	0.358000	0.25811	0.375000	0.29983	6.565000	0.73974	1.878000	0.54408	0.477000	0.44152	ATC		0.542	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1		NM_020448	
OSBP2	23762	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	31266569	31266569	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr22:31266569A>G	ENST00000332585.6	+	3	1111	c.1007A>G	c.(1006-1008)gAg>gGg	p.E336G	OSBP2_ENST00000403222.3_Missense_Mutation_p.E171G|OSBP2_ENST00000446658.2_Missense_Mutation_p.E336G|OSBP2_ENST00000382310.3_Missense_Mutation_p.E336G|OSBP2_ENST00000407373.1_Missense_Mutation_p.E163G|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000437268.2_Missense_Mutation_p.E78G	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	336					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)	p.E336G(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TCCCTGACAGAGCTGGACGGC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											56.0	64.0	61.0					22																	31266569		2144	4239	6383	SO:0001583	missense	23762				CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1007A>G	22.37:g.31266569A>G	ENSP00000332576:p.Glu336Gly		B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	CCDS43002.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.143697	0.77888	.	.	ENSG00000184792	ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000437268	T;T;T;T;T;T	0.55234	0.72;0.73;1.31;1.2;1.31;0.53	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.991;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.76071	0.987;0.914;0.971;0.971;0.987;0.979	T	0.74780	-0.3549	10	0.40728	T	0.16	-17.0798	13.6784	0.62469	1.0:0.0:0.0:0.0	.	78;336;171;163;336;336	F5H2A3;B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.;.;.;.;.;OSBP2_HUMAN	G	171;163;336;336;336;78	ENSP00000384213:E171G;ENSP00000385237:E163G;ENSP00000332576:E336G;ENSP00000371747:E336G;ENSP00000392080:E336G;ENSP00000389200:E78G	ENSP00000332576:E336G	E	+	2	0	OSBP2	29596569	1.000000	0.71417	0.986000	0.45419	0.607000	0.37147	8.933000	0.92911	1.905000	0.55150	0.460000	0.39030	GAG		0.562	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2		NM_030758	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52637711	52637711	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr3:52637711G>A	ENST00000296302.7	-	17	2606	c.2605C>T	c.(2605-2607)Cag>Tag	p.Q869*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.Q884*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.Q869*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.Q869*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.Q869*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.Q869*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.Q837*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.Q884*			Q86U86	PB1_HUMAN	polybromo 1	869					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.Q869*(2)|p.Q837*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AAAAACTGCTGAAGTTCTACT	0.338			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Nonsense(3)	kidney(3)											59.0	56.0	57.0					3																	52637711		2203	4299	6502	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2605C>T	3.37:g.52637711G>A	ENSP00000296302:p.Gln869*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	41	8.591612	0.98877	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.72	4.83	0.62350	.	0.052873	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-23.7529	16.8561	0.86006	0.0:0.1286:0.8714:0.0	.	.	.	.	X	837;869;869;869;869;869;884;884;869;828	.	ENSP00000296302:Q869X	Q	-	1	0	PBRM1	52612751	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.893000	0.87330	1.507000	0.48752	0.650000	0.86243	CAG		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDHA12	56137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140255906	140255906	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr5:140255906G>A	ENST00000398631.2	+	1	849	c.849G>A	c.(847-849)atG>atA	p.M283I	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	283	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.M283I(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATCAAAATGATTTTGCCAG	0.363																																					Pancreas(113;759 1672 13322 24104 50104)												1	Substitution - Missense(1)	kidney(1)											107.0	113.0	111.0					5																	140255906		1851	4102	5953	SO:0001583	missense	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.849G>A	5.37:g.140255906G>A	ENSP00000381628:p.Met283Ile		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	9.059	0.993914	0.19043	.	.	ENSG00000251664	ENST00000398631	T	0.51071	0.72	5.07	2.07	0.26955	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.16471	0.0396	N	0.01048	-1.04	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.11329	0.001;0.006	T	0.16512	-1.0400	9	0.66056	D	0.02	.	1.492	0.02459	0.1863:0.1706:0.467:0.1761	.	283;283	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	I	283	ENSP00000381628:M283I	ENSP00000381628:M283I	M	+	3	0	PCDHA12	140236090	0.000000	0.05858	0.779000	0.31741	0.924000	0.55760	-0.027000	0.12371	0.514000	0.28300	0.591000	0.81541	ATG		0.363	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2		NM_018903	
PHRF1	57661	broad.mit.edu;ucsc.edu	37	11	608267	608267	+	Silent	SNP	C	C	A	rs556043379		TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr11:608267C>A	ENST00000264555.5	+	14	2939	c.2811C>A	c.(2809-2811)ccC>ccA	p.P937P	PHRF1_ENST00000413872.2_Silent_p.P935P|PHRF1_ENST00000416188.2_Silent_p.P936P|PHRF1_ENST00000533464.1_Silent_p.P933P	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	937					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.P937P(1)|p.P942P(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGCCATCCCCCCCAGAGCCCT	0.692																																																	2	Substitution - coding silent(2)	kidney(2)											14.0	18.0	17.0					11																	608267		1937	4082	6019	SO:0001819	synonymous_variant	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2811C>A	11.37:g.608267C>A			A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37																																																																																					0.692	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1		NM_020901	
PRR4	11272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	11035696	11035696	+	Splice_Site	SNP	C	C	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr12:11035696C>T	ENST00000536668.1	-	6	639		c.e6-1		PRH1_ENST00000428168.2_Splice_Site	NR_037918.1		Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)						retina homeostasis (GO:0001895)|visual perception (GO:0007601)	extracellular space (GO:0005615)		p.?(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						TGGCTGACATCTAGAAAAGAA	0.403																																																	1	Unknown(1)	kidney(1)											142.0	141.0	141.0					12																	11035696		2203	4300	6503	SO:0001630	splice_region_variant	5554				CCDS41756.1, CCDS55804.1	12p13	2008-02-05		2004-05-28		ENSG00000111215			18020	protein-coding gene	gene with protein product		605359		PROL4		7544782	Standard	NM_007244		Approved	LPRP	uc001qyz.4	Q16378		ENST00000536668.1:c.917-1G>A	12.37:g.11035696C>T			A8KA69|F5H0D7|Q8NFB3	Splice_Site	SNP	ENST00000536668.1	37		.	.	.	.	.	.	.	.	.	.	C	0.403	-0.917402	0.02396	.	.	ENSG00000231887	ENST00000428168	.	.	.	1.1	0.156	0.14910	.	.	.	.	.	.	.	.	.	.	.	0.21740	N	0.999562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.2655	0.06864	0.0:0.6964:0.0:0.3036	.	.	.	.	.	-1	.	.	.	-	.	.	PRH1	10926963	0.042000	0.20092	0.054000	0.19295	0.085000	0.17905	1.090000	0.30902	0.025000	0.15241	0.313000	0.20887	.		0.403	PRR4-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000400050.2		NM_007244	Intron
PRKDC	5591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	48794597	48794597	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr8:48794597T>C	ENST00000314191.2	-	38	4891	c.4835A>G	c.(4834-4836)cAc>cGc	p.H1612R	PRKDC_ENST00000338368.3_Missense_Mutation_p.H1612R|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1613					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.H1613R(1)|p.H1612R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CAGTCCTTGGTGTTTCTGGTT	0.453								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												2	Substitution - Missense(2)	kidney(2)											150.0	143.0	145.0					8																	48794597		1917	4132	6049	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4835A>G	8.37:g.48794597T>C	ENSP00000313420:p.His1612Arg		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	T	9.051	0.992089	0.18966	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02197	4.47;4.4	5.28	4.1	0.47936	Armadillo-like helical (1);Armadillo-type fold (1);	0.624544	0.17022	N	0.190089	T	0.03178	0.0093	L	0.44542	1.39	0.23946	N	0.996381	B;B	0.20459	0.045;0.045	B;B	0.21546	0.035;0.035	T	0.35201	-0.9798	10	0.49607	T	0.09	.	11.4471	0.50129	0.1352:0.0:0.0:0.8648	.	1612;1613	E7EUY0;P78527	.;PRKDC_HUMAN	R	1612	ENSP00000313420:H1612R;ENSP00000345182:H1612R	ENSP00000313420:H1612R	H	-	2	0	PRKDC	48957150	0.996000	0.38824	0.012000	0.15200	0.412000	0.31113	2.938000	0.48987	0.834000	0.34852	0.377000	0.23210	CAC		0.453	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640	
RAB32	10981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	146875689	146875689	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr6:146875689delT	ENST00000367495.3	+	3	805	c.626delT	c.(625-627)attfs	p.I209fs		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	209					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		GTGGACAAAATTAAGCTAGAT	0.428																																																	0													126.0	126.0	126.0					6																	146875689		2203	4300	6503	SO:0001589	frameshift_variant	10981			U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"""RAB, member RAS oncogene"", ""A-kinase anchor proteins"""	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.626delT	6.37:g.146875689delT	ENSP00000356465:p.Ile209fs			Frame_Shift_Del	DEL	ENST00000367495.3	37	CCDS5210.1																																																																																				0.428	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1		NM_006834	
RASGRF1	5923	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	79356851	79356851	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr15:79356851G>T	ENST00000419573.3	-	2	568	c.294C>A	c.(292-294)aaC>aaA	p.N98K	RASGRF1_ENST00000558480.2_Missense_Mutation_p.N98K|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	98	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N98K(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CATGGCTGAAGTTCACCGTGA	0.478																																																	1	Substitution - Missense(1)	kidney(1)											290.0	236.0	254.0					15																	79356851		2196	4293	6489	SO:0001583	missense	5923			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.294C>A	15.37:g.79356851G>T	ENSP00000405963:p.Asn98Lys		F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602756	0.46423	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.41065	1.01	4.95	4.95	0.65309	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.255252	0.40064	N	0.001183	T	0.35480	0.0933	N	0.25380	0.74	0.80722	D	1	B;B;B;B	0.23990	0.095;0.095;0.095;0.032	B;B;B;B	0.33121	0.102;0.158;0.102;0.062	T	0.12502	-1.0545	10	0.31617	T	0.26	.	15.7119	0.77635	0.0:0.0:1.0:0.0	.	98;98;98;98	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	K	98	ENSP00000405963:N98K	ENSP00000378224:N98K	N	-	3	2	RASGRF1	77143906	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	1.690000	0.37711	2.564000	0.86499	0.561000	0.74099	AAC		0.478	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3		NM_002891	
ROBO2	6092	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	77666705	77666705	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr3:77666705C>G	ENST00000461745.1	+	22	4235	c.3335C>G	c.(3334-3336)aCt>aGt	p.T1112S	ROBO2_ENST00000332191.8_Missense_Mutation_p.T1112S|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000487694.3_Missense_Mutation_p.T1128S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1112					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.T1112S(1)|p.T1128S(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAGTACAAACTTACTTACAC	0.428																																																	2	Substitution - Missense(2)	kidney(2)											129.0	117.0	121.0					3																	77666705		1975	4171	6146	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3335C>G	3.37:g.77666705C>G	ENSP00000417164:p.Thr1112Ser		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.35|14.35	2.507916|2.507916	0.44558|0.44558	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000490991|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.|T;T;T	.|0.62788	.|0.0;0.03;0.04	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.47093	.|D	.|0.000241	T|T	0.52948|0.52948	0.1766|0.1766	N|N	0.20845|0.20845	0.615|0.615	.|.	.|.	.|.	.|P;P;P	.|0.48230	.|0.801;0.907;0.816	.|B;P;B	.|0.46362	.|0.344;0.514;0.232	T|T	0.48581|0.48581	-0.9023|-0.9023	4|9	.|0.10377	.|T	.|0.69	.|.	19.5819|19.5819	0.95471|0.95471	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1128;1112;1112	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	V|S	269|1128;1128;1112;1112	.|ENSP00000417335:T1128S;ENSP00000417164:T1112S;ENSP00000327536:T1112S	.|ENSP00000327536:T1112S	L|T	+|+	1|2	0|0	ROBO2|ROBO2	77749395|77749395	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.725000|0.725000	0.41563|0.41563	7.487000|7.487000	0.81328|0.81328	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	CTT|ACT		0.428	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2		XM_031246	
SCN1A	6323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	166870294	166870294	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr2:166870294G>T	ENST00000303395.4	-	18	3664	c.3665C>A	c.(3664-3666)aCc>aAc	p.T1222N	SCN1A_ENST00000423058.2_Missense_Mutation_p.T1222N|SCN1A_ENST00000409050.1_Missense_Mutation_p.T1194N|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.T1211N|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1222					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.T1211N(1)|p.T1222N(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACAATGAAGGTCTCAAACCA	0.388																																																	2	Substitution - Missense(2)	kidney(2)											208.0	178.0	188.0					2																	166870294		2203	4300	6503	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3665C>A	2.37:g.166870294G>T	ENSP00000303540:p.Thr1222Asn		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347138	0.82022	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	5.43	5.43	0.79202	Sodium ion transport-associated (1);	0.000000	0.64402	D	0.000008	D	0.95130	0.8422	M	0.88031	2.925	0.49213	D	0.999764	D;P;D	0.60575	0.988;0.611;0.974	P;B;P	0.62885	0.832;0.34;0.908	D	0.95713	0.8759	10	0.87932	D	0	.	19.2261	0.93819	0.0:0.0:1.0:0.0	.	1211;1194;1222	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	N	1222;1222;1211;1194	ENSP00000407030:T1222N;ENSP00000303540:T1222N;ENSP00000364554:T1211N;ENSP00000386312:T1194N	ENSP00000303540:T1222N	T	-	2	0	SCN1A	166578540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.571000	0.82399	2.538000	0.85594	0.650000	0.86243	ACC		0.388	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920	
SKA3	221150	hgsc.bcm.edu	37	13	21746645	21746645	+	Splice_Site	SNP	T	T	G			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr13:21746645T>G	ENST00000314759.5	-	3	290		c.e3-2		SKA3_ENST00000400018.3_Splice_Site	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3						chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AACATCATCCTTTTATGAATA	0.249																																																	0													29.0	30.0	30.0					13																	21746645		2171	4267	6438	SO:0001630	splice_region_variant	221150			AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.166-2A>C	13.37:g.21746645T>G			A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Splice_Site	SNP	ENST00000314759.5	37	CCDS31946.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.108029	0.37242	.	.	ENSG00000165480	ENST00000314759;ENST00000400018	.	.	.	5.61	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1546	0.36985	0.0:0.0834:0.0:0.9166	.	.	.	.	.	-1	.	.	.	-	.	.	SKA3	20644645	1.000000	0.71417	0.937000	0.37676	0.674000	0.39518	4.313000	0.59160	0.961000	0.38030	0.482000	0.46254	.		0.249	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000272912.1		NM_145061	Intron
SULF1	23213	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	70533276	70533276	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr8:70533276C>T	ENST00000260128.4	+	14	2101	c.1384C>T	c.(1384-1386)Caa>Taa	p.Q462*	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Nonsense_Mutation_p.Q462*|SULF1_ENST00000458141.2_Nonsense_Mutation_p.Q462*|SULF1_ENST00000419716.3_Nonsense_Mutation_p.Q462*	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	462					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.Q462*(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCAGAAGTGGCAATGCATTGA	0.453																																																	1	Substitution - Nonsense(1)	kidney(1)											74.0	77.0	76.0					8																	70533276		2203	4300	6503	SO:0001587	stop_gained	23213			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1384C>T	8.37:g.70533276C>T	ENSP00000260128:p.Gln462*		Q86YV8|Q8NCA2|Q9UPS5	Nonsense_Mutation	SNP	ENST00000260128.4	37	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	C	46	12.849901	0.99701	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	.	.	.	5.95	5.95	0.96441	.	0.049007	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	.	.	.	X	462	.	ENSP00000260128:Q462X	Q	+	1	0	SULF1	70695830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.501000	0.81600	2.824000	0.97209	0.655000	0.94253	CAA		0.453	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2		NM_015170	
TLE6	79816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2987728	2987728	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr19:2987728G>A	ENST00000246112.4	+	9	766	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	TLE6_ENST00000452088.1_Missense_Mutation_p.E66K|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	189					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.E66K(1)|p.E189K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGGCAGGAAAGCAAGGC	0.597																																																	2	Substitution - Missense(2)	kidney(2)											81.0	79.0	80.0					19																	2987728		2203	4300	6503	SO:0001583	missense	79816			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.565G>A	19.37:g.2987728G>A	ENSP00000246112:p.Glu189Lys		J3KMZ1	Missense_Mutation	SNP	ENST00000246112.4	37	CCDS45910.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951253	0.53186	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.18338	2.22;2.27	2.89	1.82	0.25136	.	.	.	.	.	T	0.20618	0.0496	L	0.27053	0.805	0.09310	N	1	D;D;D	0.64830	0.994;0.974;0.994	P;P;P	0.60886	0.88;0.74;0.841	T	0.14952	-1.0454	9	0.27082	T	0.32	-13.8431	7.8485	0.29440	0.0:0.257:0.743:0.0	.	189;66;66	C9JGZ7;Q9H808;Q6PJM9	.;TLE6_HUMAN;.	K	189;189;66;66	ENSP00000246112:E189K;ENSP00000406893:E66K	ENSP00000246112:E189K	E	+	1	0	TLE6	2938728	0.145000	0.22656	0.205000	0.23548	0.098000	0.18820	0.896000	0.28377	0.771000	0.33359	0.555000	0.69702	GAA		0.597	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345996.3		NM_024760	
SYT3	84258	broad.mit.edu;hgsc.bcm.edu	37	19	51135742	51135742	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr19:51135742G>T	ENST00000338916.4	-	2	1108	c.475C>A	c.(475-477)Ccc>Acc	p.P159T	SYT3_ENST00000544769.1_Missense_Mutation_p.P159T|SYT3_ENST00000600079.1_Missense_Mutation_p.P159T|SYT3_ENST00000593901.1_Missense_Mutation_p.P159T	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	159					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.P159T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		AAGTAGGAGGGCTCAGGGGTG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											24.0	24.0	24.0					19																	51135742		2202	4299	6501	SO:0001583	missense	84258			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.475C>A	19.37:g.51135742G>T	ENSP00000340914:p.Pro159Thr		Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247180	0.59103	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.58358	0.34;0.34	4.59	4.59	0.56863	.	0.094029	0.42682	U	0.000676	T	0.29355	0.0731	N	0.14661	0.345	0.42109	D	0.991379	P	0.43477	0.808	B	0.33295	0.161	T	0.11542	-1.0583	10	0.23302	T	0.38	.	12.3749	0.55275	0.0:0.0:0.8306:0.1694	.	159	Q9BQG1	SYT3_HUMAN	T	159	ENSP00000340914:P159T;ENSP00000438883:P159T	ENSP00000340914:P159T	P	-	1	0	SYT3	55827554	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	5.415000	0.66411	2.536000	0.85505	0.563000	0.77884	CCC		0.652	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1		NM_032298	
TRIM8	81603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	104404879	104404879	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr10:104404879T>C	ENST00000302424.7	+	1	627	c.505T>C	c.(505-507)Tac>Cac	p.Y169H	RP11-47A8.5_ENST00000607967.1_lincRNA	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	169					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.Y169H(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTACTGCTGCTACTACAGCGG	0.667																																																	1	Substitution - Missense(1)	kidney(1)											14.0	15.0	15.0					10																	104404879		1655	3272	4927	SO:0001583	missense	81603			AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.505T>C	10.37:g.104404879T>C	ENSP00000302120:p.Tyr169His		A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.834420	0.71373	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.56776	0.44	4.87	4.87	0.63330	.	0.114692	0.64402	N	0.000009	T	0.33265	0.0857	N	0.08118	0	0.54753	D	0.999984	P	0.51653	0.947	B	0.41374	0.355	T	0.25779	-1.0122	10	0.37606	T	0.19	.	14.4753	0.67541	0.0:0.0:0.0:1.0	.	169	Q9BZR9	TRIM8_HUMAN	H	169	ENSP00000302120:Y169H	ENSP00000302120:Y169H	Y	+	1	0	TRIM8	104394869	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.565000	0.82337	1.826000	0.53198	0.379000	0.24179	TAC		0.667	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3		NM_030912	
UHRF1BP1L	23074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100433380	100433380	+	Silent	SNP	C	C	T			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr12:100433380C>T	ENST00000279907.7	-	20	4481	c.4269G>A	c.(4267-4269)agG>agA	p.R1423R	UHRF1BP1L_ENST00000545232.2_Silent_p.R1073R	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1423								p.R1423R(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTACCTGTTCCCTAGTGAAGT	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											96.0	84.0	88.0					12																	100433380		2203	4300	6503	SO:0001819	synonymous_variant	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.4269G>A	12.37:g.100433380C>T			A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	6.616	0.482028	0.12581	.	.	ENSG00000111647	ENST00000548712	.	.	.	4.77	1.11	0.20524	.	.	.	.	.	T	0.53498	0.1800	.	.	.	0.48762	D	0.999701	.	.	.	.	.	.	T	0.42548	-0.9445	4	.	.	.	-4.3062	6.3354	0.21292	0.0:0.5837:0.0:0.4163	.	.	.	.	E	184	.	.	G	-	2	0	UHRF1BP1L	98957511	0.002000	0.14202	0.631000	0.29282	0.845000	0.48019	-1.024000	0.03603	0.242000	0.21303	0.650000	0.86243	GGG		0.388	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1		NM_001006947	
ANKRD36C	400986	broad.mit.edu	37	2	96525717	96525718	+	Frame_Shift_Ins	INS	-	-	T	rs368489323|rs111957693|rs77057279		TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr2:96525717_96525718insT	ENST00000456556.1	-	61	3871_3872	c.3787_3788insA	c.(3787-3789)ctgfs	p.L1263fs	ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.L514fs|ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.L290fs			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1263							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						CTTATTTTTCAGTTTTCGAATT	0.282																																																	0																																										SO:0001589	frameshift_variant	0			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.3787_3788insA	2.37:g.96525717_96525718insT	ENSP00000403302:p.Leu1263fs		C9JZ08|Q15694|Q53S06|Q658V2	RNA	INS	ENST00000456556.1	37																																																																																					0.282	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2		NM_001010914	
VHL	7428	broad.mit.edu;hgsc.bcm.edu	37	3	10183747	10183748	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.|C	.|T	.|C	.|C	Unknown	Untested|Valid	Somatic	Phase_I	WXS	none|Illumina Miseq			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr3:10183747_10183748CC>AT	ENST00000256474.2	+	1	1056_1057	c.216_217CC>AT	c.(214-219)tcCCag>tcATag	p.Q73*	VHL_ENST00000345392.2_Nonsense_Mutation_p.Q73*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	73			Missing (in VHLD; type I).		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.Q73*(5)|p.Q73fs*86(2)|p.E70fs*85(1)|p.S72_V87>L(1)|p.P71fs*84(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S72>?(1)|p.P71fs*56(1)|p.V74fs*58(1)|p.S72S(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)		GCGAGCCCTCCCAGGTCATCTT	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"""	17	Deletion - Frameshift(7)|Substitution - Nonsense(5)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Complex(1)|Substitution - coding silent(1)	kidney(16)|soft_tissue(1)	GRCh37	CM951269|HD971372	VHL	D|M																																				SO:0001587	stop_gained	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.10183747_10183748delinsAT	ENSP00000256474:p.Gln73*		B2RE45|Q13599|Q6PDA9	Silent|Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																				0.723	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	RNA	SNP	C	C	G	rs17857355	byFrequency	TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr2:114355998C>G	ENST00000538033.2	+	0	2178							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCAAGGTGGGCACTTGATGTC	0.612																																																	0																																												375260					2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114355998C>G				Missense_Mutation	SNP	ENST00000538033.2	37																																																																																					0.612	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1		NM_198943	
ZNF77	58492	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	2933730	2933730	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5180-01A-01D-1429-08	TCGA-BP-5180-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a776bde5-7503-459c-8419-dc0d744a651e	f0385a6f-db22-4f21-a571-206fb7f74285	g.chr19:2933730T>A	ENST00000314531.4	-	4	1487	c.1395A>T	c.(1393-1395)gaA>gaT	p.E465D		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E465D(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTGATTACATTCGTACGGTT	0.498																																																	1	Substitution - Missense(1)	kidney(1)											121.0	114.0	116.0					19																	2933730		2203	4300	6503	SO:0001583	missense	58492			X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1395A>T	19.37:g.2933730T>A	ENSP00000319053:p.Glu465Asp		Q86XJ3|Q9NPP0	Missense_Mutation	SNP	ENST00000314531.4	37	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.025176	0.35701	.	.	ENSG00000175691	ENST00000341064;ENST00000314531	T	0.22134	1.97	2.55	-1.23	0.09465	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18718	0.0449	L	0.31157	0.91	0.09310	N	1	D	0.56287	0.975	P	0.51918	0.684	T	0.12837	-1.0532	9	0.66056	D	0.02	.	3.5988	0.08016	0.0:0.2533:0.1974:0.5493	.	465	Q15935	ZNF77_HUMAN	D	259;465	ENSP00000319053:E465D	ENSP00000319053:E465D	E	-	3	2	ZNF77	2884730	0.000000	0.05858	0.000000	0.03702	0.380000	0.30137	-3.670000	0.00398	-0.557000	0.06126	0.397000	0.26171	GAA		0.498	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1		NM_021217	
