#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
ADAMTS8	11095	hgsc.bcm.edu	37	11	130278689	130278689	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr11:130278689T>C	ENST00000257359.6	-	7	2603	c.1897A>G	c.(1897-1899)Agc>Ggc	p.S633G		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	633	Cys-rich.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TTGAACTCGCTCCTCCCCCGG	0.637																																																	0													89.0	92.0	91.0					11																	130278689		1911	4123	6034	SO:0001583	missense	11095			AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.1897A>G	11.37:g.130278689T>C	ENSP00000257359:p.Ser633Gly		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	T	7.785	0.710312	0.15239	.	.	ENSG00000134917	ENST00000531752;ENST00000257359;ENST00000414575	T	0.03663	3.85	5.76	4.6	0.57074	.	0.072732	0.85682	D	0.000000	T	0.03053	0.0090	L	0.28608	0.87	0.37432	D	0.91408	B;B	0.15141	0.012;0.001	B;B	0.15484	0.013;0.003	T	0.22208	-1.0223	10	0.02654	T	1	.	12.8609	0.57913	0.0:0.0:0.1361:0.8638	.	633;114	Q9UP79;B3KVX9	ATS8_HUMAN;.	G	31;633;662	ENSP00000257359:S633G	ENSP00000257359:S633G	S	-	1	0	ADAMTS8	129783899	0.994000	0.37717	0.923000	0.36655	0.985000	0.73830	2.087000	0.41653	0.964000	0.38108	0.533000	0.62120	AGC		0.637	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1		NM_007037	
ATAD2B	54454	hgsc.bcm.edu	37	2	24108653	24108653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr2:24108653G>A	ENST00000238789.5	-	5	962	c.619C>T	c.(619-621)Cag>Tag	p.Q207*		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	207				Q -> R (in Ref. 2; BAC04429). {ECO:0000305}.		nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGACGATTCTGTCGGATGTTA	0.358																																																	0													105.0	99.0	101.0					2																	24108653		1894	4115	6009	SO:0001587	stop_gained	54454			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.619C>T	2.37:g.24108653G>A	ENSP00000238789:p.Gln207*		B9ZVQ5|Q6ZNA6|Q8N9E7	Nonsense_Mutation	SNP	ENST00000238789.5	37	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	G	33	5.193411	0.94960	.	.	ENSG00000119778	ENST00000238789;ENST00000442596;ENST00000439915	.	.	.	4.94	0.645	0.17782	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	14.1672	0.65486	0.0:0.0:0.4415:0.5585	.	.	.	.	X	207;45;207	.	ENSP00000238789:Q207X	Q	-	1	0	ATAD2B	23962157	1.000000	0.71417	0.999000	0.59377	0.724000	0.41520	1.712000	0.37940	0.201000	0.20466	-0.312000	0.09012	CAG		0.358	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1		NM_017552	
ATP13A2	23400	hgsc.bcm.edu	37	1	17313021	17313021	+	Silent	SNP	G	G	A	rs115985012	byFrequency	TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr1:17313021G>A	ENST00000326735.8	-	28	3375	c.3342C>T	c.(3340-3342)acC>acT	p.T1114T	ATP13A2_ENST00000341676.5_Intron|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Silent_p.T1109T			Q9NQ11	AT132_HUMAN	ATPase type 13A2	1114					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GCTTGAAGCCGGTGTCAGTGA	0.682													G|||	4	0.000798722	0.0	0.0	5008	,	,		14228	0.001		0.003	False		,,,				2504	0.0																0								G	,,	2,4404	4.2+/-10.8	0,2,2201	49.0	55.0	53.0		3327,,3342	-0.6	0.0	1	dbSNP_132	53	32,8566	22.8+/-68.1	0,32,4267	no	coding-synonymous,intron,coding-synonymous	ATP13A2	NM_001141973.1,NM_001141974.1,NM_022089.2	,,	0,34,6468	AA,AG,GG		0.3722,0.0454,0.2615	,,	1109/1176,,1114/1181	17313021	34,12970	2203	4299	6502	SO:0001819	synonymous_variant	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.3342C>T	1.37:g.17313021G>A			O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Silent	SNP	ENST00000326735.8	37	CCDS175.1																																																																																				0.682	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1		NM_022089	
ATXN1	6310	hgsc.bcm.edu	37	6	16328275	16328275	+	Silent	SNP	C	C	T	rs146853248	byFrequency	TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr6:16328275C>T	ENST00000244769.4	-	8	1203	c.267G>A	c.(265-267)ccG>ccA	p.P89P	ATXN1_ENST00000436367.1_Silent_p.P89P	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	89					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.P89P(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GAGCGCTGGGCGGGGAGTAGT	0.677																																																	1	Substitution - coding silent(1)	central_nervous_system(1)											71.0	77.0	75.0					6																	16328275		2203	4299	6502	SO:0001819	synonymous_variant	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.267G>A	6.37:g.16328275C>T			Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	ENST00000244769.4	37	CCDS34342.1																																																																																				0.677	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3		NM_000332	
BCL6	604	hgsc.bcm.edu;ucsc.edu	37	3	187443369	187443369	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr3:187443369G>T	ENST00000406870.2	-	8	2123	c.1757C>A	c.(1756-1758)cCa>cAa	p.P586Q	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.P530Q|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.P586Q	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	586					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P586Q(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CAGGTTGGCTGGCCGGTTGAA	0.488			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	1	Substitution - Missense(1)	large_intestine(1)											126.0	134.0	132.0					3																	187443369		2203	4300	6503	SO:0001583	missense	604				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1757C>A	3.37:g.187443369G>T	ENSP00000384371:p.Pro586Gln		A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743376	0.89663	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.35421	1.31;1.31;2.46	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	N	0.16478	0.41	0.80722	D	1	D;P	0.89917	1.0;0.454	D;B	0.85130	0.997;0.098	T	0.52434	-0.8576	10	0.72032	D	0.01	.	18.8311	0.92139	0.0:0.0:1.0:0.0	.	530;586	B8PSA7;P41182	.;BCL6_HUMAN	Q	586;586;530	ENSP00000384371:P586Q;ENSP00000232014:P586Q;ENSP00000413122:P530Q	ENSP00000232014:P586Q	P	-	2	0	BCL6	188926063	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.062000	0.89475	2.679000	0.91253	0.655000	0.94253	CCA		0.488	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1		NM_138931	
FAM210A	125228	hgsc.bcm.edu	37	18	13681611	13681611	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr18:13681611C>A	ENST00000322247.3	-	3	853	c.466G>T	c.(466-468)Gcc>Tcc	p.A156S	FAM210A_ENST00000402563.1_Missense_Mutation_p.A156S|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	156	DUF1279.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											TACTTCAAGGCTGCATAATAA	0.308																																																	0													61.0	60.0	61.0					18																	13681611		2203	4300	6503	SO:0001583	missense	0			AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.466G>T	18.37:g.13681611C>A	ENSP00000323635:p.Ala156Ser		D3DUJ4	Missense_Mutation	SNP	ENST00000322247.3	37	CCDS11866.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404971	0.42613	.	.	ENSG00000177150	ENST00000322247;ENST00000402563	T;T	0.30448	1.53;1.53	5.51	2.75	0.32379	Domain of unknown function DUF1279 (1);	0.153093	0.64402	N	0.000019	T	0.27027	0.0662	L	0.50333	1.59	0.58432	D	0.999996	B	0.25809	0.135	B	0.32289	0.143	T	0.04005	-1.0985	10	0.27785	T	0.31	-2.7467	8.122	0.30976	0.1296:0.7341:0.0:0.1364	.	156	Q96ND0	CR019_HUMAN	S	156	ENSP00000323635:A156S;ENSP00000386115:A156S	ENSP00000323635:A156S	A	-	1	0	C18orf19	13671611	1.000000	0.71417	0.999000	0.59377	0.718000	0.41266	3.881000	0.56152	0.275000	0.22094	-0.150000	0.13652	GCC		0.308	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1		NM_152352	
C1orf86	199990	hgsc.bcm.edu	37	1	2121164	2121164	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr1:2121164T>G	ENST00000378546.4	-	4	551	c.527A>C	c.(526-528)gAa>gCa	p.E176A	C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000378545.3_Missense_Mutation_p.E279A|C1orf86_ENST00000400919.3_5'UTR|AL590822.2_ENST00000597060.1_5'Flank	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	176				ED -> KN (in Ref. 2; AAQ04817). {ECO:0000305}.	cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CGTCACGTCTTCTGTGCTTTC	0.697																																																	0													69.0	55.0	59.0					1																	2121164		2203	4300	6503	SO:0001583	missense	199990			AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.527A>C	1.37:g.2121164T>G	ENSP00000367808:p.Glu176Ala		A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Missense_Mutation	SNP	ENST00000378546.4	37	CCDS38.2	.	.	.	.	.	.	.	.	.	.	T	14.35	2.509474	0.44660	.	.	ENSG00000162585	ENST00000378546;ENST00000378545	T;T	0.54071	0.64;0.59	5.55	5.55	0.83447	.	0.935050	0.08854	N	0.884017	T	0.59689	0.2212	.	.	.	0.09310	N	1	D	0.54207	0.965	P	0.50970	0.655	T	0.52200	-0.8607	9	0.62326	D	0.03	-4.7049	10.2007	0.43082	0.1483:0.0:0.0:0.8517	.	176	Q6NZ36	CA086_HUMAN	A	176;279	ENSP00000367808:E176A;ENSP00000367807:E279A	ENSP00000367807:E279A	E	-	2	0	C1orf86	2111024	0.192000	0.23301	0.019000	0.16419	0.051000	0.14879	1.753000	0.38359	2.124000	0.65301	0.374000	0.22700	GAA		0.697	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1		NM_182533	
C1orf85	112770	hgsc.bcm.edu	37	1	156264685	156264685	+	Silent	SNP	T	T	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr1:156264685T>G	ENST00000362007.1	-	2	269	c.243A>C	c.(241-243)gtA>gtC	p.V81V	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	81					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TGGCCACCATTACCACTGCCA	0.622																																																	0													76.0	82.0	80.0					1																	156264685		2203	4300	6503	SO:0001819	synonymous_variant	112770			BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"""kidney lysosomal membrane protein"""					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.243A>C	1.37:g.156264685T>G			A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Silent	SNP	ENST00000362007.1	37	CCDS1139.1																																																																																				0.622	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052108.1		NM_144580	
CACNA1A	773	hgsc.bcm.edu;ucsc.edu	37	19	13325357	13325357	+	Silent	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr19:13325357G>A	ENST00000360228.5	-	39	5796	c.5797C>T	c.(5797-5799)Ctg>Ttg	p.L1933L	CACNA1A_ENST00000573710.2_Silent_p.L1934L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1934					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TTCTGGGACAGATTGGGCCAA	0.587																																																	0													64.0	69.0	67.0					19																	13325357		2174	4264	6438	SO:0001819	synonymous_variant	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5797C>T	19.37:g.13325357G>A			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	CCDS45998.1																																																																																				0.587	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2		NM_000068	
CARS	833	hgsc.bcm.edu	37	11	3028150	3028150	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr11:3028150T>G	ENST00000397111.5	-	18	2104	c.1859A>C	c.(1858-1860)aAc>aCc	p.N620T	CARS_ENST00000470221.2_5'UTR|CARS_ENST00000401769.3_Missense_Mutation_p.N633T|CARS_ENST00000397114.3_Missense_Mutation_p.N610T|CARS_ENST00000278224.9_Missense_Mutation_p.N620T|CARS_ENST00000380525.4_Missense_Mutation_p.N703T			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	620					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GGGCAGGATGTTGTCCCGCAG	0.577			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													171.0	163.0	166.0					11																	3028150		2202	4298	6500	SO:0001583	missense	833			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1859A>C	11.37:g.3028150T>G	ENSP00000380300:p.Asn620Thr		Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	T	10.91	1.484612	0.26598	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	4.42	4.42	0.53409	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.226355	0.44097	D	0.000482	T	0.27313	0.0670	N	0.16790	0.44	0.22050	N	0.999397	B;B;B;B;B;B	0.09022	0.001;0.001;0.001;0.002;0.001;0.001	B;B;B;B;B;B	0.10450	0.002;0.002;0.002;0.005;0.004;0.002	T	0.14282	-1.0478	10	0.33940	T	0.23	-18.828	12.3687	0.55242	0.0:0.0:0.0:1.0	.	633;703;620;620;703;610	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	T	703;620;620;610;633	ENSP00000369897:N703T;ENSP00000380300:N620T;ENSP00000278224:N620T;ENSP00000380303:N610T;ENSP00000384069:N633T	ENSP00000278224:N620T	N	-	2	0	CARS	2984726	1.000000	0.71417	0.041000	0.18516	0.285000	0.27093	6.807000	0.75201	1.848000	0.53677	0.379000	0.24179	AAC		0.577	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4		NM_001751	
CATSPER4	378807	hgsc.bcm.edu	37	1	26527919	26527919	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr1:26527919C>T	ENST00000456354.2	+	9	1341	c.1274C>T	c.(1273-1275)aCg>aTg	p.T425M		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	425					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTCGTCGACGAGCGGGTCG	0.572																																																	0													101.0	91.0	94.0					1																	26527919		2203	4300	6503	SO:0001583	missense	378807			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.1274C>T	1.37:g.26527919C>T	ENSP00000390423:p.Thr425Met		A1A4W6|Q5VY71	Missense_Mutation	SNP	ENST00000456354.2	37	CCDS30645.1	.	.	.	.	.	.	.	.	.	.	c	12.59	1.983668	0.35036	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.97404	-4.37;-4.36	5.09	-10.2	0.00374	.	2.836530	0.01633	N	0.023666	D	0.85894	0.5803	N	0.02011	-0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.78666	-0.2115	10	0.38643	T	0.18	0.7693	1.734	0.02937	0.2151:0.2576:0.3684:0.1589	.	425	Q7RTX7	CTSR4_HUMAN	M	425	ENSP00000341006:T425M;ENSP00000390423:T425M	ENSP00000341006:T425M	T	+	2	0	CATSPER4	26400506	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.018000	0.01444	-1.132000	0.02907	-0.676000	0.03789	ACG		0.572	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2		NM_198137	
CLCN2	1181	hgsc.bcm.edu	37	3	184064478	184064479	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr3:184064478_184064479delCT	ENST00000265593.4	-	24	2783_2784	c.2612_2613delAG	c.(2611-2613)gagfs	p.E871fs	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Frame_Shift_Del_p.E854fs|CLCN2_ENST00000434054.2_Frame_Shift_Del_p.E827fs|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Frame_Shift_Del_p.E842fs	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	871					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTGCATGCACCTCAGTGGTCTC	0.668																																																	0																																										SO:0001589	frameshift_variant	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.2612_2613delAG	3.37:g.184064478_184064479delCT	ENSP00000265593:p.Glu871fs		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Frame_Shift_Del	DEL	ENST00000265593.4	37	CCDS3263.1																																																																																				0.668	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			
DEGS1	8560	hgsc.bcm.edu	37	1	224377848	224377848	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr1:224377848C>T	ENST00000323699.4	+	2	818	c.652C>T	c.(652-654)Ctt>Ttt	p.L218F	DEGS1_ENST00000391877.3_Missense_Mutation_p.L218F	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	218					small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		AGCATCTTTACTTGGCCTGGG	0.368																																																	0													130.0	130.0	130.0					1																	224377848		2203	4300	6503	SO:0001583	missense	8560			AF002668	CCDS1540.1	1q42.11	2013-09-02	2011-12-09	2004-12-14	ENSG00000143753	ENSG00000143753		"""Fatty acid desaturases"""	13709	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 1"", ""dihydroceramide desaturase 1"""	615843	"""degenerative spermatocyte homolog 1, lipid desaturase (Drosophila)"""			9188692, 20105137	Standard	NM_003676		Approved	MLD, Des-1, DES1, FADS7, DEGS-1	uc001hoj.3	O15121	OTTHUMG00000037496	ENST00000323699.4:c.652C>T	1.37:g.224377848C>T	ENSP00000316476:p.Leu218Phe			Missense_Mutation	SNP	ENST00000323699.4	37	CCDS1540.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513746	0.44763	.	.	ENSG00000143753	ENST00000415210;ENST00000323699;ENST00000391877	T;T;T	0.19250	2.16;2.16;2.16	6.02	3.15	0.36227	Fatty acid desaturase, type 1 (1);	0.170456	0.53938	N	0.000055	T	0.17066	0.0410	L	0.37507	1.11	0.80722	D	1	B;B	0.23442	0.01;0.085	B;B	0.30029	0.11;0.066	T	0.05241	-1.0897	10	0.19147	T	0.46	.	11.4837	0.50342	0.0:0.8052:0.0:0.1948	.	218;197	O15121;E7EMA0	DEGS1_HUMAN;.	F	197;218;218	ENSP00000400545:L197F;ENSP00000316476:L218F;ENSP00000375749:L218F	ENSP00000316476:L218F	L	+	1	0	DEGS1	222444471	1.000000	0.71417	0.553000	0.28255	0.994000	0.84299	4.097000	0.57741	0.897000	0.36392	0.549000	0.68633	CTT		0.368	DEGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091285.2			
DNAAF1	123872	hgsc.bcm.edu;ucsc.edu	37	16	84211399	84211399	+	Silent	SNP	T	T	C			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr16:84211399T>C	ENST00000378553.5	+	12	2254	c.2130T>C	c.(2128-2130)gcT>gcC	p.A710A	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	710					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CCAGCCAAGCTCTGCCCACGT	0.537																																																	0													122.0	111.0	115.0					16																	84211399		2200	4300	6500	SO:0001819	synonymous_variant	123872			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.2130T>C	16.37:g.84211399T>C			B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Silent	SNP	ENST00000378553.5	37	CCDS10943.2																																																																																				0.537	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250328.3		NM_178452	
DNAH14	127602	hgsc.bcm.edu	37	1	225380562	225380565	+	Frame_Shift_Del	DEL	AAAG	AAAG	-	rs191528375|rs144339803	byFrequency	TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	AAAG	AAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr1:225380562_225380565delAAAG	ENST00000445597.2	+	25	4554_4557	c.4554_4557delAAAG	c.(4552-4557)acaaagfs	p.TK1518fs	DNAH14_ENST00000430092.1_Frame_Shift_Del_p.TK1923fs|DNAH14_ENST00000439375.2_Frame_Shift_Del_p.TK1923fs			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	1518					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						CAAAGAACACAAAGAAAGACATTG	0.289														98	0.0195687	0.0038	0.0231	5008	,	,		16043	0.0		0.0636	False		,,,				2504	0.0133																0										26,1986		3,20,983						3.0	0.0		dbSNP_134	171	216,3860		17,182,1839	no	frameshift	DNAH14	NM_001373.1		20,202,2822	A1A1,A1R,RR		5.2993,1.2922,3.975				242,5846				SO:0001589	frameshift_variant	127602			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.4554_4557delAAAG	1.37:g.225380566_225380569delAAAG	ENSP00000409472:p.Thr1518fs		A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Frame_Shift_Del	DEL	ENST00000445597.2	37																																																																																					0.289	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3		XM_059166	
FAM179B	23116	hgsc.bcm.edu;ucsc.edu	37	14	45433129	45433129	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr14:45433129C>A	ENST00000361577.3	+	1	1719	c.1505C>A	c.(1504-1506)cCt>cAt	p.P502H	KLHL28_ENST00000396128.4_5'Flank|KLHL28_ENST00000355081.2_5'Flank|FAM179B_ENST00000382233.2_Missense_Mutation_p.P502H|FAM179B_ENST00000361462.2_Missense_Mutation_p.P502H|KLHL28_ENST00000553817.1_5'UTR	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	502										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTGACCTATCCTAGTGAGGAT	0.483																																																	0													121.0	106.0	111.0					14																	45433129		2203	4300	6503	SO:0001583	missense	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1505C>A	14.37:g.45433129C>A	ENSP00000355045:p.Pro502His		Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352408	0.61293	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.52295	0.67;0.67;0.67	4.29	4.29	0.51040	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.68851	0.3046	M	0.76170	2.325	0.53688	D	0.999979	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	T	0.73965	-0.3816	10	0.72032	D	0.01	-7.7992	16.8884	0.86081	0.0:1.0:0.0:0.0	.	502;502;502;502	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	H	502	ENSP00000355045:P502H;ENSP00000354917:P502H;ENSP00000371668:P502H	ENSP00000354917:P502H	P	+	2	0	FAM179B	44502879	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.322000	0.79097	2.379000	0.81126	0.561000	0.74099	CCT		0.483	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1		XM_113781	
FBXO18	84893	hgsc.bcm.edu;ucsc.edu	37	10	5963284	5963284	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr10:5963284G>A	ENST00000362091.4	+	14	2279	c.2164G>A	c.(2164-2166)Gtc>Atc	p.V722I	FBXO18_ENST00000379999.5_Missense_Mutation_p.V773I|FBXO18_ENST00000397269.3_Missense_Mutation_p.V209I	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	722					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TTGCAAGAGAGTCAGGAAAAA	0.413																																																	0													137.0	140.0	139.0					10																	5963284		2203	4300	6503	SO:0001583	missense	84893			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2164G>A	10.37:g.5963284G>A	ENSP00000355415:p.Val722Ile		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621609	0.66787	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	D;D;D	0.81659	-1.52;-1.52;-1.52	6.03	6.03	0.97812	.	0.058330	0.64402	D	0.000002	T	0.76069	0.3936	L	0.42744	1.35	0.49483	D	0.999793	P;P;B	0.42456	0.778;0.78;0.185	B;B;B	0.42738	0.396;0.213;0.093	T	0.73244	-0.4044	10	0.29301	T	0.29	-18.613	13.3622	0.60663	0.0751:0.0:0.9249:0.0	.	773;722;648	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	I	209;722;773	ENSP00000380439:V209I;ENSP00000355415:V722I;ENSP00000369335:V773I	ENSP00000355415:V722I	V	+	1	0	FBXO18	6003290	1.000000	0.71417	0.993000	0.49108	0.944000	0.59088	5.301000	0.65727	2.880000	0.98712	0.650000	0.86243	GTC		0.413	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1		NM_032807	
FAM188A	80013	hgsc.bcm.edu	37	10	15902225	15902225	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr10:15902225A>G	ENST00000277632.3	-	1	294	c.74T>C	c.(73-75)aTt>aCt	p.I25T	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	25					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						GCGGCAGAAAATGGTGTCCGA	0.622																																					Pancreas(159;946 1953 2111 4475 22008)												0													39.0	39.0	39.0					10																	15902225		2203	4300	6503	SO:0001583	missense	80013			AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.74T>C	10.37:g.15902225A>G	ENSP00000277632:p.Ile25Thr		Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.432756	0.62844	.	.	ENSG00000148481	ENST00000277632	T	0.33438	1.41	5.34	4.18	0.49190	.	0.235336	0.45361	D	0.000369	T	0.29491	0.0735	L	0.58810	1.83	0.80722	D	1	B	0.27286	0.174	B	0.28553	0.091	T	0.07083	-1.0791	10	0.52906	T	0.07	-9.007	8.4282	0.32742	0.8262:0.0:0.0:0.1738	.	25	Q9H8M7	F188A_HUMAN	T	25	ENSP00000277632:I25T	ENSP00000277632:I25T	I	-	2	0	FAM188A	15942231	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	4.448000	0.60027	0.818000	0.34468	0.533000	0.62120	ATT		0.622	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2		NM_024948	
FZR1	51343	hgsc.bcm.edu	37	19	3531748	3531748	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr19:3531748G>A	ENST00000395095.3	+	8	757	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	FZR1_ENST00000313639.8_Missense_Mutation_p.V164M|FZR1_ENST00000441788.2_Missense_Mutation_p.V253M	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	253					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGGCTTCGTGCAGATCTG	0.672																																																	0													56.0	58.0	57.0					19																	3531748		1829	3549	5378	SO:0001583	missense	51343			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.757G>A	19.37:g.3531748G>A	ENSP00000378529:p.Val253Met		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997436	0.74818	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.38240	1.15;1.15;4.6	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68943	0.3056	M	0.92880	3.355	0.80722	D	1	D;D;D	0.89917	0.998;0.991;1.0	D;P;D	0.70935	0.971;0.872;0.945	T	0.78028	-0.2364	10	0.87932	D	0	-22.2044	17.2375	0.87004	0.0:0.0:1.0:0.0	.	253;164;253	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	M	253;253;164	ENSP00000410369:V253M;ENSP00000378529:V253M;ENSP00000321800:V164M	ENSP00000321800:V164M	V	+	1	0	FZR1	3482748	1.000000	0.71417	1.000000	0.80357	0.354000	0.29330	7.687000	0.84139	2.426000	0.82243	0.561000	0.74099	GTG		0.672	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2		NM_016263	
GRIN1	2902	hgsc.bcm.edu	37	9	140057373	140057373	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr9:140057373G>A	ENST00000371561.3	+	15	3186	c.2089G>A	c.(2089-2091)Gtg>Atg	p.V697M	GRIN1_ENST00000350902.5_Missense_Mutation_p.V697M|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371560.3_Missense_Mutation_p.V718M|GRIN1_ENST00000315048.3_Missense_Mutation_p.V697M|GRIN1_ENST00000371559.4_Missense_Mutation_p.V697M|GRIN1_ENST00000371555.4_Missense_Mutation_p.V718M|GRIN1_ENST00000371546.4_Missense_Mutation_p.V718M|GRIN1_ENST00000371550.4_Missense_Mutation_p.V697M|GRIN1_ENST00000371553.3_Missense_Mutation_p.V718M	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	697					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGGCGCCAGGTGGAGCTGAG	0.622																																					NSCLC(113;717 1653 2089 20474 37618)												0													31.0	30.0	31.0					9																	140057373		2201	4297	6498	SO:0001583	missense	2902				CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.2089G>A	9.37:g.140057373G>A	ENSP00000360616:p.Val697Met		A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.525437	0.85600	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	4.61	4.61	0.57282	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	L	0.40543	1.245	0.80722	D	1	D;P;D;D;D;D	0.76494	0.999;0.901;0.999;0.999;0.999;0.995	D;B;D;D;D;D	0.85130	0.997;0.321;0.995;0.995;0.997;0.914	T	0.69120	-0.5229	10	0.87932	D	0	.	16.015	0.80430	0.0:0.0:1.0:0.0	.	718;718;697;697;697;697	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	M	697;697;697;697;718;718;718;697;718	ENSP00000360616:V697M;ENSP00000316696:V697M;ENSP00000316915:V697M;ENSP00000360605:V697M;ENSP00000360601:V718M;ENSP00000360610:V718M;ENSP00000360608:V718M;ENSP00000360614:V697M;ENSP00000360615:V718M	ENSP00000316696:V697M	V	+	1	0	GRIN1	139177194	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.059000	0.93902	2.127000	0.65507	0.450000	0.29827	GTG		0.622	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3		NM_007327	
GTF2E2	2961	hgsc.bcm.edu	37	8	30436496	30436496	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr8:30436496T>C	ENST00000355904.4	-	8	1100	c.818A>G	c.(817-819)cAt>cGt	p.H273R		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	273					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		GTGTTCGTTATGAGTCTTAAA	0.418																																																	0													179.0	166.0	171.0					8																	30436496		2203	4300	6503	SO:0001583	missense	2961			BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.818A>G	8.37:g.30436496T>C	ENSP00000348168:p.His273Arg		D3DSV2|Q9H2B9	Missense_Mutation	SNP	ENST00000355904.4	37	CCDS6078.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.093983	0.76870	.	.	ENSG00000197265	ENST00000355904	T	0.30448	1.53	5.92	4.72	0.59763	.	0.040950	0.85682	N	0.000000	T	0.41419	0.1158	M	0.68317	2.08	0.80722	D	1	P	0.51057	0.941	P	0.51453	0.67	T	0.29027	-1.0025	10	0.48119	T	0.1	-16.9413	10.823	0.46617	0.1407:0.0:0.0:0.8593	.	273	P29084	T2EB_HUMAN	R	273	ENSP00000348168:H273R	ENSP00000348168:H273R	H	-	2	0	GTF2E2	30556038	1.000000	0.71417	0.931000	0.37212	0.988000	0.76386	5.888000	0.69758	2.266000	0.75297	0.533000	0.62120	CAT		0.418	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2		NM_002095	
GYS2	2998	hgsc.bcm.edu;ucsc.edu	37	12	21713365	21713365	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr12:21713365A>T	ENST00000261195.2	-	8	1378	c.1124T>A	c.(1123-1125)tTc>tAc	p.F375Y		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	375					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTCCACGTTGAAATTATTTGT	0.373																																					Colon(149;9 1820 3690 10544 50424)												0													202.0	183.0	189.0					12																	21713365		2203	4300	6503	SO:0001583	missense	2998				CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1124T>A	12.37:g.21713365A>T	ENSP00000261195:p.Phe375Tyr		A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159255	0.78226	.	.	ENSG00000111713	ENST00000261195	T	0.68624	-0.34	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.71065	0.3296	L	0.56280	1.765	0.80722	D	1	P	0.41366	0.747	P	0.50825	0.651	T	0.68934	-0.5278	10	0.30854	T	0.27	-21.491	14.628	0.68635	1.0:0.0:0.0:0.0	.	375	P54840	GYS2_HUMAN	Y	375	ENSP00000261195:F375Y	ENSP00000261195:F375Y	F	-	2	0	GYS2	21604632	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.123000	0.94387	2.046000	0.60703	0.460000	0.39030	TTC		0.373	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1		NM_021957	
KCNK1	3775	hgsc.bcm.edu	37	1	233802464	233802464	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr1:233802464T>G	ENST00000366621.3	+	2	647	c.479T>G	c.(478-480)gTc>gGc	p.V160G	KCNK1_ENST00000366620.1_Missense_Mutation_p.V44G|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	160					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	ACCGTGCACGTCACCCGCAGG	0.597																																																	0													165.0	116.0	133.0					1																	233802464		2203	4300	6503	SO:0001583	missense	3775			U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.479T>G	1.37:g.233802464T>G	ENSP00000355580:p.Val160Gly		Q13307|Q5T5E8	Missense_Mutation	SNP	ENST00000366621.3	37	CCDS1599.1	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909401	0.72868	.	.	ENSG00000135750	ENST00000366621;ENST00000366620;ENST00000446915	T;D;D	0.97430	1.83;-4.38;-4.38	5.91	5.91	0.95273	.	0.262524	0.43260	D	0.000596	D	0.95695	0.8600	M	0.63843	1.955	0.80722	D	1	P	0.39282	0.666	B	0.35859	0.212	D	0.95836	0.8862	10	0.72032	D	0.01	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	160	O00180	KCNK1_HUMAN	G	160;44;78	ENSP00000355580:V160G;ENSP00000355579:V44G;ENSP00000409626:V78G	ENSP00000355579:V44G	V	+	2	0	KCNK1	231869087	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	4.895000	0.63214	2.254000	0.74563	0.533000	0.62120	GTC		0.597	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092565.1		NM_002245	
KDM2A	22992	hgsc.bcm.edu	37	11	67017709	67017709	+	Silent	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr11:67017709G>A	ENST00000529006.2	+	17	2654	c.2208G>A	c.(2206-2208)gtG>gtA	p.V736V	KDM2A_ENST00000530342.1_Silent_p.V297V|KDM2A_ENST00000308783.5_Silent_p.V194V|KDM2A_ENST00000398645.2_Silent_p.V736V|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	736					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GGGGTATGGTGACTCGGTCAT	0.677																																																	0													27.0	31.0	30.0					11																	67017709		1968	4142	6110	SO:0001819	synonymous_variant	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.2208G>A	11.37:g.67017709G>A			D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	37	CCDS44657.1																																																																																				0.677	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2		NM_012308	
CAMSAP3	57662	hgsc.bcm.edu	37	19	7675369	7675369	+	Silent	SNP	C	C	T	rs62113420	byFrequency	TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr19:7675369C>T	ENST00000160298.4	+	6	869	c.768C>T	c.(766-768)tgC>tgT	p.C256C	CAMSAP3_ENST00000446248.2_Silent_p.C283C	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	256	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CAGAGGTGTGCTTGAAGGACC	0.632													C|||	371	0.0740815	0.0862	0.0994	5008	,	,		14322	0.002		0.161	False		,,,				2504	0.0245																0								C	,	310,3818		16,278,1770	87.0	96.0	93.0		849,768	4.3	1.0	19	dbSNP_129	93	1141,7251		65,1011,3120	no	coding-synonymous,coding-synonymous	CAMSAP3	NM_001080429.2,NM_020902.1	,	81,1289,4890	TT,TC,CC		13.5963,7.5097,11.5895	,	283/1277,256/1250	7675369	1451,11069	2064	4196	6260	SO:0001819	synonymous_variant	0			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.768C>T	19.37:g.7675369C>T			Q8NDF1	Silent	SNP	ENST00000160298.4	37	CCDS42489.1																																																																																				0.632	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1		XM_048362	
KRT3	3850	hgsc.bcm.edu	37	12	53189696	53189696	+	Missense_Mutation	SNP	C	C	G	rs28721426	byFrequency	TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr12:53189696C>G	ENST00000417996.2	-	1	205	c.131G>C	c.(130-132)gGc>gCc	p.G44A	KRT3_ENST00000309505.3_Missense_Mutation_p.G44A	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	44	Gly-rich.|Head.		G -> A (in dbSNP:rs28721426).		epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCTCCGGAAGCCATAGGCCCC	0.682													C|||	693	0.138379	0.2943	0.1167	5008	,	,		14277	0.002		0.163	False		,,,				2504	0.0583																0								C	ALA/GLY	1173,3233	401.5+/-332.0	155,863,1185	43.0	58.0	53.0		131	4.9	0.4	12	dbSNP_125	53	1542,7056	283.6+/-296.2	171,1200,2928	yes	missense	KRT3	NM_057088.2	60	326,2063,4113	GG,GC,CC		17.9344,26.6228,20.8782	probably-damaging	44/629	53189696	2715,10289	2203	4299	6502	SO:0001583	missense	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.131G>C	12.37:g.53189696C>G	ENSP00000413479:p.Gly44Ala		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	317	0.14514652014652016	147	0.29878048780487804	45	0.12430939226519337	0	0.0	125	0.16490765171503957	c	8.538	0.872561	0.17322	0.266228	0.179344	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.93763	-3.28;-3.28	4.94	4.94	0.65067	.	0.000000	0.47852	D	0.000218	T	0.00039	0.0001	L	0.28504	0.86	0.31019	P	0.718341	D	0.71674	0.998	P	0.61533	0.89	T	0.00000	-1.3191	9	0.35671	T	0.21	.	16.0488	0.80740	0.0:1.0:0.0:0.0	rs28721426;rs59935660	44	P12035	K2C3_HUMAN	A	44	ENSP00000413479:G44A;ENSP00000312206:G44A	ENSP00000312206:G44A	G	-	2	0	KRT3	51475963	0.699000	0.27786	0.381000	0.26106	0.020000	0.10135	4.308000	0.59129	2.460000	0.83146	0.555000	0.69702	GGC		0.682	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1		NM_057088	
LCT	3938	hgsc.bcm.edu;ucsc.edu	37	2	136566910	136566910	+	Silent	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr2:136566910G>A	ENST00000264162.2	-	8	3017	c.3007C>T	c.(3007-3009)Ctg>Ttg	p.L1003L	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1003	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CCATTGATCAGCCTGTTGTAA	0.517																																																	0													62.0	67.0	65.0					2																	136566910		2203	4300	6503	SO:0001819	synonymous_variant	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3007C>T	2.37:g.136566910G>A			Q4ZG58	Silent	SNP	ENST00000264162.2	37	CCDS2178.1																																																																																				0.517	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1		NM_002299	
LILRA5	353514	hgsc.bcm.edu;ucsc.edu	37	19	54822747	54822747	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr19:54822747A>C	ENST00000301219.3	-	5	768	c.649T>G	c.(649-651)Tct>Gct	p.S217A	LILRA5_ENST00000432233.3_Missense_Mutation_p.S217A|LILRA5_ENST00000446712.3_Missense_Mutation_p.S205A|LILRA5_ENST00000346508.3_Missense_Mutation_p.S205A|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	217	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGCCTGCGAGAGCCATAGCAT	0.587																																																	0													77.0	76.0	76.0					19																	54822747		2203	4300	6503	SO:0001583	missense	353514			AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.649T>G	19.37:g.54822747A>C	ENSP00000301219:p.Ser217Ala		A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	A	9.631	1.136502	0.21123	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.03772	3.81;3.81;3.81;3.81	2.61	1.52	0.23074	Immunoglobulin-like fold (1);	0.990786	0.08163	U	0.988103	T	0.08223	0.0205	L	0.58510	1.815	0.09310	N	1	B;B;B;B	0.26002	0.139;0.113;0.139;0.122	B;B;B;B	0.36244	0.182;0.14;0.117;0.22	T	0.44190	-0.9344	10	0.46703	T	0.11	.	5.5113	0.16882	0.7099:0.2901:0.0:0.0	.	205;217;205;217	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	A	217;205;205;217	ENSP00000301219:S217A;ENSP00000302948:S205A;ENSP00000389499:S205A;ENSP00000404236:S217A	ENSP00000301219:S217A	S	-	1	0	LILRA5	59514559	0.000000	0.05858	0.011000	0.14972	0.714000	0.41099	0.013000	0.13310	0.226000	0.20979	0.172000	0.16884	TCT		0.587	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1		NM_181985	
LRRK2	120892	hgsc.bcm.edu;ucsc.edu	37	12	40692241	40692241	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr12:40692241T>C	ENST00000298910.7	+	24	3351	c.3293T>C	c.(3292-3294)gTa>gCa	p.V1098A	LRRK2_ENST00000343742.2_Missense_Mutation_p.V1098A	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1098					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGTCTTTTGTACCTGAGAAC	0.403																																																	0													129.0	124.0	126.0					12																	40692241		2203	4300	6503	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3293T>C	12.37:g.40692241T>C	ENSP00000298910:p.Val1098Ala		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114466	0.37339	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.25912	2.13;1.77	5.85	5.85	0.93711	.	0.792750	0.12050	N	0.504199	T	0.32071	0.0817	M	0.70108	2.13	0.09310	N	0.999999	B;B	0.20671	0.039;0.047	B;B	0.19148	0.024;0.013	T	0.17868	-1.0355	10	0.54805	T	0.06	.	12.0608	0.53561	0.0:0.0686:0.0:0.9314	.	1098;1098	E9PC85;Q5S007	.;LRRK2_HUMAN	A	1098	ENSP00000341930:V1098A;ENSP00000298910:V1098A	ENSP00000298910:V1098A	V	+	2	0	LRRK2	38978508	0.337000	0.24766	0.264000	0.24511	0.868000	0.49771	1.533000	0.36040	2.229000	0.72834	0.533000	0.62120	GTA		0.403	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1		XM_058513	
LYPD1	116372	hgsc.bcm.edu;ucsc.edu	37	2	133403819	133403819	+	Silent	SNP	C	C	T	rs201249597	byFrequency	TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr2:133403819C>T	ENST00000397463.2	-	3	497	c.225G>A	c.(223-225)gcG>gcA	p.A75A	GPR39_ENST00000329321.3_3'UTR|LYPD1_ENST00000345008.6_Silent_p.A23A|GPR39_ENST00000470071.1_3'UTR	NM_144586.5	NP_653187.3	Q8N2G4	LYPD1_HUMAN	LY6/PLAUR domain containing 1	75	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				lung(2)	2						TGAGACAGGCCGCTGATGATG	0.552													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18178	0.0		0.0	False		,,,				2504	0.0																0								C	,,	1,4255		0,1,2127	52.0	60.0	57.0		69,,225	-11.4	0.0	2		57	11,8461		0,11,4225	no	coding-synonymous,utr-3,coding-synonymous	GPR39,LYPD1	NM_001077427.2,NM_001508.2,NM_144586.5	,,	0,12,6352	TT,TC,CC		0.1298,0.0235,0.0943	,,	23/90,,75/142	133403819	12,12716	2128	4236	6364	SO:0001819	synonymous_variant	116372			AK075487	CCDS42759.1, CCDS46416.1	2q21.2	2008-02-05		2005-08-30	ENSG00000150551	ENSG00000150551			28431	protein-coding gene	gene with protein product		610450		LYPDC1		12477932	Standard	NM_144586		Approved	MGC29643	uc002ttn.3	Q8N2G4	OTTHUMG00000153609	ENST00000397463.2:c.225G>A	2.37:g.133403819C>T			H7BXW6|Q6ZP52|Q6ZWI4|Q96AC2	Silent	SNP	ENST00000397463.2	37	CCDS42759.1																																																																																				0.552	LYPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331821.1		NM_144586	
MTUS1	57509	hgsc.bcm.edu;ucsc.edu	37	8	17612773	17612773	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr8:17612773G>A	ENST00000262102.6	-	2	768	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	MTUS1_ENST00000381869.3_Nonsense_Mutation_p.Q182*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.Q182*|MTUS1_ENST00000381862.3_Nonsense_Mutation_p.Q182*	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	182					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGGAAGGACTGACTCTTTCCG	0.438																																																	0													138.0	123.0	127.0					8																	17612773		1949	4134	6083	SO:0001587	stop_gained	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.544C>T	8.37:g.17612773G>A	ENSP00000262102:p.Gln182*		A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Nonsense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	G	37	6.309412	0.97462	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	.	.	.	4.24	4.24	0.50183	.	0.367714	0.22169	N	0.063676	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0702	12.4333	0.55584	0.0:0.0:1.0:0.0	.	.	.	.	X	182	.	.	Q	-	1	0	MTUS1	17657053	0.014000	0.17966	0.084000	0.20598	0.006000	0.05464	1.985000	0.40668	2.637000	0.89404	0.563000	0.77884	CAG		0.438	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1		XM_372031	
MUC16	94025	hgsc.bcm.edu;ucsc.edu	37	19	9061085	9061085	+	Silent	SNP	G	G	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr19:9061085G>T	ENST00000397910.4	-	3	26564	c.26361C>A	c.(26359-26361)atC>atA	p.I8787I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8789	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTTGGGGGTGATGGTCATTT	0.507																																																	0													144.0	130.0	135.0					19																	9061085		1997	4171	6168	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26361C>A	19.37:g.9061085G>T			Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
NRN1	51299	hgsc.bcm.edu	37	6	6002641	6002641	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr6:6002641T>C	ENST00000244766.2	-	2	362	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	49				SM -> TW (in Ref. 3; AAP97232). {ECO:0000305}.	nervous system development (GO:0007399)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|anchored component of membrane (GO:0031225)|cell junction (GO:0030054)|synapse (GO:0045202)				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TAGTTGGCCATGCTGTCGCCC	0.617																																																	0													158.0	133.0	142.0					6																	6002641		2203	4300	6503	SO:0001583	missense	51299			AF136631	CCDS4495.1, CCDS75393.1	6p25.1	2008-02-05			ENSG00000124785	ENSG00000124785			17972	protein-coding gene	gene with protein product		607409				9122250	Standard	NM_016588		Approved	NRN	uc003mwu.3	Q9NPD7	OTTHUMG00000014184	ENST00000244766.2:c.145A>G	6.37:g.6002641T>C	ENSP00000244766:p.Met49Val		B2RA93|Q7Z4Y1	Missense_Mutation	SNP	ENST00000244766.2	37	CCDS4495.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.341319	0.41498	.	.	ENSG00000124785	ENST00000244766	.	.	.	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	L	0.42245	1.32	0.46203	D	0.998925	B	0.02656	0.0	B	0.04013	0.001	T	0.38929	-0.9638	9	0.40728	T	0.16	-9.5493	11.209	0.48786	0.0:0.0:0.0:1.0	.	49	Q9NPD7	NRN1_HUMAN	V	49	.	ENSP00000244766:M49V	M	-	1	0	NRN1	5947640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.965000	0.63708	1.773000	0.52216	0.379000	0.24179	ATG		0.617	NRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039753.1			
TENM1	10178	hgsc.bcm.edu;ucsc.edu	37	X	123517592	123517592	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chrX:123517592G>A	ENST00000371130.3	-	29	7231	c.7168C>T	c.(7168-7170)Cat>Tat	p.H2390Y	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.H2397Y	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2390					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CATATGTGATGATTAGGCGTT	0.398																																																	0													158.0	149.0	152.0					X																	123517592		2203	4300	6503	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7168C>T	X.37:g.123517592G>A	ENSP00000360171:p.His2390Tyr		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	0.715	-0.785662	0.02907	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85339	-1.97;-1.94	5.58	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.71995	0.3406	N	0.20986	0.625	0.52501	D	0.999952	P;P;P	0.42827	0.791;0.791;0.698	B;B;B	0.38378	0.272;0.272;0.05	T	0.72211	-0.4359	10	0.02654	T	1	.	13.9275	0.63972	0.0752:0.0:0.9248:0.0	.	2396;2397;2390	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Y	2390;2397	ENSP00000360171:H2390Y;ENSP00000403954:H2397Y	ENSP00000360171:H2390Y	H	-	1	0	ODZ1	123345273	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.857000	0.55972	1.239000	0.43787	0.600000	0.82982	CAT		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1		NM_014253	
PKP4	8502	hgsc.bcm.edu;ucsc.edu	37	2	159481890	159481890	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr2:159481890G>T	ENST00000389759.3	+	7	1216	c.1104G>T	c.(1102-1104)caG>caT	p.Q368H	PKP4_ENST00000389757.3_Missense_Mutation_p.Q368H	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	368					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GACAGCAGCAGTATGACATTT	0.527										HNSCC(62;0.18)																																							0													81.0	69.0	73.0					2																	159481890		2203	4300	6503	SO:0001583	missense	8502			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.1104G>T	2.37:g.159481890G>T	ENSP00000374409:p.Gln368His		Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.736650	0.30774	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	T;T	0.74106	-0.81;-0.81	5.67	3.85	0.44370	.	0.240074	0.44688	D	0.000434	T	0.46405	0.1391	N	0.02539	-0.55	0.32795	N	0.50067	B;B;B;B;B	0.09022	0.001;0.001;0.002;0.002;0.002	B;B;B;B;B	0.12156	0.003;0.002;0.003;0.002;0.007	T	0.51387	-0.8712	10	0.36615	T	0.2	-4.4719	7.6527	0.28358	0.1908:0.0:0.6879:0.1213	.	220;324;368;368;220	Q6LCG8;Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;.;PKP4_HUMAN;.	H	220;368;368	ENSP00000374407:Q368H;ENSP00000374409:Q368H	ENSP00000374407:Q368H	Q	+	3	2	PKP4	159190136	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.789000	0.26886	1.536000	0.49237	0.655000	0.94253	CAG		0.527	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			
PASK	23178	hgsc.bcm.edu	37	2	242082263	242082263	+	Missense_Mutation	SNP	G	G	A	rs144572631	byFrequency	TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr2:242082263G>A	ENST00000405260.1	-	2	883	c.185C>T	c.(184-186)aCa>aTa	p.T62I	PASK_ENST00000403638.3_Missense_Mutation_p.T62I|PASK_ENST00000234040.4_Missense_Mutation_p.T62I|PASK_ENST00000544142.1_Nonsense_Mutation_p.Q11*|PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Missense_Mutation_p.T62I	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	62					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)	p.T62I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGAGAGCGCTGTCCTGCTCTG	0.562													G|||	2	0.000399361	0.0	0.0	5008	,	,		20364	0.0		0.002	False		,,,				2504	0.0																2	Substitution - Missense(2)	large_intestine(2)						G	ILE/THR	0,4406		0,0,2203	84.0	71.0	75.0		185	-4.0	0.0	2	dbSNP_134	75	2,8598	2.2+/-6.3	0,2,4298	yes	missense	PASK	NM_015148.2	89	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	62/1324	242082263	2,13004	2203	4300	6503	SO:0001583	missense	23178			U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.185C>T	2.37:g.242082263G>A	ENSP00000384016:p.Thr62Ile		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	CCDS2545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.256444|4.256444	0.80246|0.80246	0.0|0.0	2.33E-4|2.33E-4	ENSG00000115687|ENSG00000115687	ENST00000544142|ENST00000234040;ENST00000405260;ENST00000358649;ENST00000403638;ENST00000452907	.|T;T;T;T	.|0.67523	.|-0.27;-0.27;-0.23;0.71	4.18|4.18	-3.97|-3.97	0.04094|0.04094	.|.	.|1.245370	.|0.05571	.|N	.|0.571164	.|T	.|0.44644	.|0.1303	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B	.|0.17852	.|0.024;0.017;0.008;0.024	.|B;B;B;B	.|0.14578	.|0.005;0.007;0.011;0.005	.|T	.|0.31081	.|-0.9956	.|10	0.87932|0.14656	D|T	0|0.56	.|.	11.1762|11.1762	0.48601|0.48601	0.2968:0.0:0.7032:0.0|0.2968:0.0:0.7032:0.0	.|.	.|62;62;62;62	.|B7Z7R6;Q96RG2-2;G5E9F1;Q96RG2	.|.;.;.;PASK_HUMAN	X|I	11|62	.|ENSP00000234040:T62I;ENSP00000384016:T62I;ENSP00000351475:T62I;ENSP00000384438:T62I	ENSP00000441374:Q11X|ENSP00000234040:T62I	Q|T	-|-	1|2	0|0	PASK|PASK	241730936|241730936	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.172000|0.172000	0.22775|0.22775	-0.008000|-0.008000	0.12788|0.12788	-0.905000|-0.905000	0.03871|0.03871	-0.367000|-0.367000	0.07326|0.07326	CAG|ACA		0.562	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1		NM_015148	
PRKAG2	51422	hgsc.bcm.edu	37	7	151478258	151478258	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr7:151478258A>G	ENST00000287878.4	-	3	950	c.446T>C	c.(445-447)tTt>tCt	p.F149S	PRKAG2_ENST00000461529.1_5'UTR|PRKAG2_ENST00000392801.2_Missense_Mutation_p.F105S	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	149					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	GCGGGAGAAAAACCTGATGCC	0.587																																																	0													92.0	103.0	99.0					7																	151478258		2203	4300	6503	SO:0001583	missense	51422			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.446T>C	7.37:g.151478258A>G	ENSP00000287878:p.Phe149Ser		Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.823246	0.50739	.	.	ENSG00000106617	ENST00000287878;ENST00000392801	D;D	0.88818	-2.02;-2.43	5.1	5.1	0.69264	.	0.127944	0.52532	D	0.000070	D	0.85733	0.5765	L	0.27053	0.805	0.80722	D	1	D;B	0.53885	0.963;0.052	P;B	0.50754	0.649;0.038	D	0.83367	0.0005	10	0.20046	T	0.44	.	14.0831	0.64937	1.0:0.0:0.0:0.0	.	149;149	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	S	149;105	ENSP00000287878:F149S;ENSP00000376549:F105S	ENSP00000287878:F149S	F	-	2	0	PRKAG2	151109191	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.161000	0.89655	1.916000	0.55485	0.460000	0.39030	TTT		0.587	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2		NM_016203	
PSD3	23362	hgsc.bcm.edu	37	8	18725300	18725300	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr8:18725300A>T	ENST00000327040.8	-	4	1620	c.1518T>A	c.(1516-1518)agT>agA	p.S506R	PSD3_ENST00000440756.2_Missense_Mutation_p.S506R|PSD3_ENST00000523619.1_Missense_Mutation_p.S441R	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	506					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTGCAGACACACTCAGGATAT	0.522																																																	0													199.0	199.0	199.0					8																	18725300		2135	4242	6377	SO:0001583	missense	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1518T>A	8.37:g.18725300A>T	ENSP00000324127:p.Ser506Arg		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894248	0.33442	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.13420	2.61;2.61;2.59	5.28	-9.58	0.00559	.	0.781000	0.11919	N	0.516844	T	0.09113	0.0225	L	0.32530	0.975	0.19775	N	0.999954	B	0.29612	0.251	B	0.27076	0.076	T	0.06972	-1.0797	10	0.49607	T	0.09	.	15.5841	0.76468	0.1793:0.0975:0.7231:0.0	.	506	E9KL50	.	R	506;506;441	ENSP00000324127:S506R;ENSP00000401704:S506R;ENSP00000430640:S441R	ENSP00000324127:S506R	S	-	3	2	PSD3	18769580	0.008000	0.16893	0.008000	0.14137	0.610000	0.37248	-0.988000	0.03739	-2.087000	0.00862	0.477000	0.44152	AGT		0.522	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1		NM_015310	
PSMD2	5708	hgsc.bcm.edu	37	3	184022099	184022099	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr3:184022099T>G	ENST00000310118.4	+	12	2017	c.1459T>G	c.(1459-1461)Ttg>Gtg	p.L487V	PSMD2_ENST00000439383.1_Missense_Mutation_p.L357V|PSMD2_ENST00000435761.1_Missense_Mutation_p.L328V|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	487					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CAGGCTAGGCTTGGCTTATGC	0.488																																					Colon(24;313 636 6917 9932 15554)												0													184.0	171.0	176.0					3																	184022099		2203	4300	6503	SO:0001583	missense	5708			AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.1459T>G	3.37:g.184022099T>G	ENSP00000310129:p.Leu487Val		B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.234811	0.79800	.	.	ENSG00000175166	ENST00000310118;ENST00000358216;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.32988	1.43;1.43;1.43	5.72	3.38	0.38709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.48059	0.1479	M	0.75264	2.295	0.58432	D	0.999994	P;D	0.57257	0.932;0.979	P;D	0.71414	0.725;0.973	T	0.46456	-0.9190	10	0.66056	D	0.02	-11.5568	4.5791	0.12250	0.0:0.4522:0.0:0.5478	.	328;487	E9PCS3;Q13200	.;PSMD2_HUMAN	V	487;161;479;328;357	ENSP00000310129:L487V;ENSP00000402618:L328V;ENSP00000416028:L357V	ENSP00000310129:L487V	L	+	1	2	PSMD2	185504793	0.983000	0.35010	1.000000	0.80357	0.964000	0.63967	1.419000	0.34793	0.996000	0.38943	0.416000	0.27883	TTG		0.488	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1		NM_002808	
RAD23A	5886	hgsc.bcm.edu;ucsc.edu	37	19	13058667	13058667	+	Silent	SNP	G	G	A			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr19:13058667G>A	ENST00000586534.1	+	2	139	c.78G>A	c.(76-78)aaG>aaA	p.K26K	RAD23A_ENST00000541222.1_De_novo_Start_OutOfFrame|RAD23A_ENST00000316856.3_Silent_p.K26K|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000592268.1_Silent_p.K26K			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	26	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TCTAGGTGAAGGTGCTAAAGG	0.507								Nucleotide excision repair (NER)																																									0													163.0	141.0	149.0					19																	13058667		2203	4300	6503	SO:0001819	synonymous_variant	5886				CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.78G>A	19.37:g.13058667G>A			K7ESE3|Q59EU8|Q5M7Z1	Silent	SNP	ENST00000586534.1	37	CCDS12289.1																																																																																				0.507	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1		NM_005053	
RHEB	6009	hgsc.bcm.edu;ucsc.edu	37	7	151188050	151188050	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr7:151188050A>T	ENST00000262187.5	-	2	515	c.103T>A	c.(103-105)Tac>Aac	p.Y35N	RHEB_ENST00000496004.1_5'UTR|RHEB_ENST00000472642.1_5'UTR	NM_005614.3	NP_005605.1	Q15382	RHEB_HUMAN	Ras homolog enriched in brain	35					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|positive regulation of TOR signaling (GO:0032008)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|spliceosomal complex (GO:0005681)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.Y35N(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		GTTGGATCGTAGGAGTCCACA	0.358																																					Pancreas(98;671 892 8111 15140 36556 39178 39939 44184)												1	Substitution - Missense(1)	kidney(1)											103.0	100.0	101.0					7																	151188050		2203	4300	6503	SO:0001583	missense	6009			D78132	CCDS5927.1	7q36	2014-05-09	2003-07-14	2003-07-14	ENSG00000106615	ENSG00000106615			10011	protein-coding gene	gene with protein product		601293	"""Ras homolog enriched in brain 2"""	RHEB2		8661031	Standard	NM_005614		Approved		uc003wkh.1	Q15382	OTTHUMG00000157330	ENST00000262187.5:c.103T>A	7.37:g.151188050A>T	ENSP00000262187:p.Tyr35Asn		B3KWN6|D3DX13|Q53Y56|Q99444	Missense_Mutation	SNP	ENST00000262187.5	37	CCDS5927.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.708820	0.89018	.	.	ENSG00000106615	ENST00000262187	T	0.81247	-1.47	5.42	5.42	0.78866	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93659	0.6980	10	0.87932	D	0	.	13.3975	0.60863	1.0:0.0:0.0:0.0	.	35	Q15382	RHEB_HUMAN	N	35	ENSP00000262187:Y35N	ENSP00000262187:Y35N	Y	-	1	0	RHEB	150818983	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.143000	0.89621	2.051000	0.60960	0.533000	0.62120	TAC		0.358	RHEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348468.2		NM_005614	
RP1L1	94137	hgsc.bcm.edu	37	8	10467579	10467581	+	In_Frame_Del	DEL	TTC	TTC	-	rs143686100		TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	TTC	TTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr8:10467579_10467581delTTC	ENST00000382483.3	-	4	4250_4252	c.4027_4029delGAA	c.(4027-4029)gaadel	p.E1343del		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1359	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|Missing (in allele RP1L1-2).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ctccttctgtttctttagtttcc	0.488																																																	0																																										SO:0001651	inframe_deletion	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4027_4029delGAA	8.37:g.10467579_10467581delTTC	ENSP00000371923:p.Glu1343del		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Del	DEL	ENST00000382483.3	37	CCDS43708.1																																																																																				0.488	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			
SLC12A5	57468	hgsc.bcm.edu	37	20	44686173	44686173	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr20:44686173C>G	ENST00000454036.2	+	26	3398	c.3349C>G	c.(3349-3351)Ctc>Gtc	p.L1117V	SLC12A5_ENST00000243964.3_Missense_Mutation_p.L1094V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	1117					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTCGAGGTCCTCACAGAGCA	0.657																																																	0													51.0	56.0	54.0					20																	44686173		2203	4300	6503	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.3349C>G	20.37:g.44686173C>G	ENSP00000387694:p.Leu1117Val		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.910375	0.72983	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	T;T	0.57595	0.39;0.39	4.24	4.24	0.50183	.	0.000000	0.64402	D	0.000002	T	0.76335	0.3973	M	0.94021	3.485	0.80722	D	1	D;D	0.54964	0.969;0.964	P;P	0.59221	0.718;0.854	D	0.84339	0.0526	10	0.87932	D	0	.	15.819	0.78626	0.0:1.0:0.0:0.0	.	1117;1094	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	V	1117;1094	ENSP00000387694:L1117V;ENSP00000243964:L1094V	ENSP00000243964:L1094V	L	+	1	0	SLC12A5	44119580	0.998000	0.40836	1.000000	0.80357	0.938000	0.57974	2.644000	0.46613	2.189000	0.69895	0.555000	0.69702	CTC		0.657	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			
SYNE1	23345	hgsc.bcm.edu	37	6	152461141	152461141	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr6:152461141G>T	ENST00000367255.5	-	140	26003	c.25402C>A	c.(25402-25404)Cgt>Agt	p.R8468S	SYNE1_ENST00000354674.4_Missense_Mutation_p.R646S|SYNE1_ENST00000539504.1_Missense_Mutation_p.R623S|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8468S|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8420S|SYNE1_ENST00000341594.5_Missense_Mutation_p.R8080S|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2992S|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8420S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8468			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTTCCAGACGCTGGAGCTGT	0.557										HNSCC(10;0.0054)																																							0													121.0	99.0	106.0					6																	152461141		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25402C>A	6.37:g.152461141G>T	ENSP00000356224:p.Arg8468Ser		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	1.431	-0.570317	0.03910	.	.	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.92	5.04	0.67666	.	0.227351	0.31156	N	0.008147	T	0.22166	0.0534	L	0.46157	1.445	0.09310	N	1	P;P;B;P;B	0.34815	0.47;0.47;0.415;0.47;0.008	B;B;B;B;B	0.42112	0.376;0.376;0.259;0.376;0.03	T	0.15983	-1.0418	10	0.19147	T	0.46	.	10.5768	0.45231	0.0683:0.0:0.7974:0.1342	.	8468;8468;8420;8420;670	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	S	8468;623;1114;8420;8468;8420;8080;2992;653;648;1413;646	ENSP00000356224:R8468S;ENSP00000441052:R623S;ENSP00000356226:R1114S;ENSP00000396024:R8420S;ENSP00000265368:R8468S;ENSP00000390975:R8420S;ENSP00000341887:R8080S;ENSP00000349276:R2992S;ENSP00000356220:R1413S;ENSP00000346701:R646S	ENSP00000265368:R8468S	R	-	1	0	SYNE1	152502834	0.000000	0.05858	0.037000	0.18230	0.206000	0.24218	0.727000	0.25999	1.465000	0.48006	0.561000	0.74099	CGT		0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961	
TMEM64	169200	hgsc.bcm.edu	37	8	91657421	91657421	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr8:91657421A>G	ENST00000458549.2	-	1	890	c.713T>C	c.(712-714)gTg>gCg	p.V238A	TMEM64_ENST00000418210.2_Missense_Mutation_p.V238A|RP11-68L18.1_ENST00000501194.2_RNA|TMEM64_ENST00000519519.1_Intron|RP11-68L18.1_ENST00000519233.1_RNA	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	238					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TCCTCCCTCCACTACGCGAAT	0.617											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													58.0	59.0	59.0					8																	91657421		2203	4300	6503	SO:0001583	missense	169200			AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.713T>C	8.37:g.91657421A>G	ENSP00000414786:p.Val238Ala	1284	B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Missense_Mutation	SNP	ENST00000458549.2	37	CCDS34920.2	.	.	.	.	.	.	.	.	.	.	A	31	5.076503	0.94000	.	.	ENSG00000180694	ENST00000458549;ENST00000418210;ENST00000422900	.	.	.	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.77579	0.4151	M	0.80847	2.515	0.80722	D	1	D;D	0.71674	0.994;0.998	P;D	0.66847	0.888;0.947	T	0.80489	-0.1360	9	0.54805	T	0.06	.	13.2705	0.60157	1.0:0.0:0.0:0.0	.	238;238	F5GXM4;Q6YI46	.;TMM64_HUMAN	A	238;238;107	.	ENSP00000411951:V238A	V	-	2	0	TMEM64	91726597	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.686000	0.91250	1.705000	0.51264	0.454000	0.30748	GTG		0.617	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1		NM_001008495	
USP54	159195	hgsc.bcm.edu;ucsc.edu	37	10	75258858	75258858	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr10:75258858G>T	ENST00000339859.4	-	23	4684	c.4584C>A	c.(4582-4584)aaC>aaA	p.N1528K	RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.N569K|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.N1528K|RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.N1378K|USP54_ENST00000422491.2_Missense_Mutation_p.N663K|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000422977.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1528					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GGCTCTGGTAGTTCAAAGTCC	0.537																																					Colon(195;880 2046 8854 25025 38456)												0													207.0	197.0	200.0					10																	75258858		2203	4300	6503	SO:0001583	missense	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.4584C>A	10.37:g.75258858G>T	ENSP00000345216:p.Asn1528Lys		A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	ENST00000339859.4	37	CCDS7329.2	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857273	0.51376	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.23147	1.96;1.96;1.95;1.92;1.92	4.98	4.07	0.47477	.	.	.	.	.	T	0.31888	0.0811	L	0.51422	1.61	0.80722	D	1	P;B	0.40731	0.728;0.319	B;B	0.43623	0.425;0.081	T	0.09796	-1.0658	9	0.87932	D	0	-7.2671	16.5846	0.84724	0.0699:0.0:0.9301:0.0	.	663;1528	E7EW90;Q70EL1	.;UBP54_HUMAN	K	1528;1528;1378;569;663	ENSP00000345216:N1528K;ENSP00000386080:N1528K;ENSP00000408714:N1378K;ENSP00000378290:N569K;ENSP00000407368:N663K	ENSP00000345216:N1528K	N	-	3	2	USP54	74928864	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.207000	0.42788	0.708000	0.31955	-1.228000	0.01579	AAC		0.537	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2		NM_152586	
ZMYM6	9204	hgsc.bcm.edu	37	1	35454280	35454280	+	Silent	SNP	T	T	C			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr1:35454280T>C	ENST00000357182.4	-	16	2630	c.2403A>G	c.(2401-2403)gtA>gtG	p.V801V	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Intron|ZMYM6_ENST00000373340.2_Intron	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	801					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				caaaaaaatctactggtttgt	0.294																																																	0													24.0	21.0	21.0					1																	35454280		1285	2958	4243	SO:0001819	synonymous_variant	9204			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.2403A>G	1.37:g.35454280T>C			B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Silent	SNP	ENST00000357182.4	37	CCDS387.2																																																																																				0.294	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1		NM_007167	
ZFYVE9	9372	hgsc.bcm.edu	37	1	52704839	52704839	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr1:52704839C>T	ENST00000371591.1	+	3	1881	c.1750C>T	c.(1750-1752)Cct>Tct	p.P584S	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.P584S|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.P584S	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	584					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ACCCAAGCAACCTTCTAATCT	0.388																																																	0													51.0	52.0	52.0					1																	52704839		2203	4300	6503	SO:0001583	missense	9372			AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1750C>T	1.37:g.52704839C>T	ENSP00000360647:p.Pro584Ser		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	CCDS563.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312482	0.60414	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.62639	0.46;0.01;0.68;0.68	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000009	T	0.67230	0.2871	L	0.27053	0.805	0.54753	D	0.999987	D;P;D	0.89917	1.0;0.727;1.0	D;B;D	0.80764	0.994;0.407;0.989	T	0.57946	-0.7723	10	0.09338	T	0.73	.	19.3716	0.94490	0.0:1.0:0.0:0.0	.	584;584;584	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	S	584	ENSP00000349737:P584S;ENSP00000355358:P584S;ENSP00000287727:P584S;ENSP00000360647:P584S	ENSP00000287727:P584S	P	+	1	0	ZFYVE9	52477427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.351000	0.66022	2.805000	0.96524	0.655000	0.94253	CCT		0.388	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1		NM_007324	
ZNF33A	7581	hgsc.bcm.edu	37	10	38343536	38343539	+	Frame_Shift_Del	DEL	TATT	TATT	-			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	TATT	TATT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr10:38343536_38343539delTATT	ENST00000458705.2	+	5	639_642	c.481_484delTATT	c.(481-486)tatttafs	p.YL161fs	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Frame_Shift_Del_p.YL162fs|ZNF33A_ENST00000432900.2_Frame_Shift_Del_p.YL168fs|ZNF33A_ENST00000307441.9_Frame_Shift_Del_p.YL161fs			Q06730	ZN33A_HUMAN	zinc finger protein 33A	161					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TAAGATAAACTATTTAGGAAAAAA	0.314																																																	0																																										SO:0001589	frameshift_variant	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.481_484delTATT	10.37:g.38343536_38343539delTATT	ENSP00000387713:p.Tyr161fs		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Frame_Shift_Del	DEL	ENST00000458705.2	37	CCDS31182.1																																																																																				0.314	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1		NM_006974	
ZNF699	374879	hgsc.bcm.edu;ucsc.edu	37	19	9406534	9406534	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4895-01A-01D-1373-10	TCGA-CJ-4895-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	3325f31d-a241-4fbe-9790-fef11ded224e	fbafc349-c909-49da-ba80-e7d1d7c7e2b6	g.chr19:9406534A>T	ENST00000591998.1	-	6	1774	c.1546T>A	c.(1546-1548)Tcc>Acc	p.S516T	ZNF699_ENST00000308650.3_Missense_Mutation_p.S516T|CTC-325H20.4_ENST00000591336.1_RNA			Q32M78	ZN699_HUMAN	zinc finger protein 699	516					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTAAGGTGGGAGGAACTAATA	0.443																																																	0													93.0	99.0	97.0					19																	9406534		2203	4296	6499	SO:0001583	missense	374879			BC109268	CCDS42495.1	19p13.2	2013-01-08				ENSG00000196110		"""Zinc fingers, C2H2-type"", ""-"""	24750	protein-coding gene	gene with protein product	hangover homolog (Drosophila)	609571				16940975	Standard	NM_198535		Approved	FLJ38144, hang	uc002mlc.1	Q32M78		ENST00000591998.1:c.1546T>A	19.37:g.9406534A>T	ENSP00000467723:p.Ser516Thr		Q8N9A1	Missense_Mutation	SNP	ENST00000591998.1	37	CCDS42495.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.584712	0.46110	.	.	ENSG00000196110	ENST00000308650	T	0.07567	3.18	3.31	2.23	0.28157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37053	N	0.002274	T	0.07954	0.0199	L	0.54965	1.715	0.09310	N	1	B	0.30281	0.275	B	0.25759	0.063	T	0.22487	-1.0215	10	0.51188	T	0.08	.	7.1688	0.25706	0.8:0.0:0.0:0.2	.	516	Q32M78	ZN699_HUMAN	T	516	ENSP00000311596:S516T	ENSP00000311596:S516T	S	-	1	0	ZNF699	9267534	0.000000	0.05858	0.028000	0.17463	0.995000	0.86356	-0.086000	0.11233	0.596000	0.29794	0.454000	0.30748	TCC		0.443	ZNF699-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449010.1		NM_198535	
