#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCC5	10057	hgsc.bcm.edu;ucsc.edu	37	3	183706414	183706414	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:183706414A>C	ENST00000334444.6	-	4	629	c.389T>G	c.(388-390)aTg>aGg	p.M130R	ABCC5_ENST00000265586.6_Missense_Mutation_p.M130R|ABCC5_ENST00000427120.2_Missense_Mutation_p.M130R|ABCC5_ENST00000392579.2_Missense_Mutation_p.M130R|ABCC5_ENST00000382494.2_Missense_Mutation_p.M130R	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	130					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CACGTCTTCCATTGAGAGCTC	0.572																																																	0													90.0	85.0	87.0					3																	183706414		2203	4300	6503	SO:0001583	missense	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.389T>G	3.37:g.183706414A>C	ENSP00000333926:p.Met130Arg	Somatic		WXS	SOLID	Phase_I	B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.196075	0.78902	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586;ENST00000427120;ENST00000392579;ENST00000382494;ENST00000437341	D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	5.99	5.99	0.97316	.	0.145275	0.64402	D	0.000004	D	0.88800	0.6535	L	0.39514	1.22	0.51233	D	0.999914	D;D;B;D;B	0.67145	0.991;0.991;0.284;0.996;0.037	P;P;B;P;B	0.60682	0.836;0.836;0.162;0.878;0.008	D	0.85804	0.1375	10	0.17369	T	0.5	-15.7919	16.4943	0.84223	1.0:0.0:0.0:0.0	.	130;130;130;130;130	A5PKY6;Q29ZA9;Q86UX3;Q86W30;O15440	.;.;.;.;MRP5_HUMAN	R	130;66;130;130;130;130;130	ENSP00000333926:M130R;ENSP00000265586:M130R;ENSP00000404809:M130R;ENSP00000376358:M130R;ENSP00000371934:M130R;ENSP00000399726:M130R	ENSP00000265586:M130R	M	-	2	0	ABCC5	185189108	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	7.088000	0.76901	2.291000	0.77112	0.533000	0.62120	ATG		0.572	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1		NM_005688	
ABCG4	64137	hgsc.bcm.edu;ucsc.edu	37	11	119031336	119031336	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:119031336T>A	ENST00000449422.2	+	14	1873	c.1685T>A	c.(1684-1686)cTg>cAg	p.L562Q	ABCG4_ENST00000531739.1_Missense_Mutation_p.L562Q|ABCG4_ENST00000307417.3_Missense_Mutation_p.L562Q	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	562	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCACTTACCTGCAATGGAGC	0.582																																																	0													220.0	208.0	212.0					11																	119031336		2200	4295	6495	SO:0001583	missense	64137			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1685T>A	11.37:g.119031336T>A	ENSP00000406874:p.Leu562Gln	Somatic		WXS	SOLID	Phase_I	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.521706	0.85600	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.75589	-0.95;-0.95;-0.95	5.49	4.29	0.51040	ABC-2 type transporter (1);	0.071779	0.64402	D	0.000017	D	0.87970	0.6312	H	0.94462	3.54	0.53688	D	0.999979	D	0.59767	0.986	D	0.66351	0.943	D	0.90215	0.4267	10	0.87932	D	0	-4.2931	10.5783	0.45240	0.1444:0.0:0.0:0.8556	.	562	Q9H172	ABCG4_HUMAN	Q	562	ENSP00000304111:L562Q;ENSP00000406874:L562Q;ENSP00000434318:L562Q	ENSP00000304111:L562Q	L	+	2	0	ABCG4	118536546	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.188000	0.72045	2.105000	0.64084	0.456000	0.33151	CTG		0.582	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1		NM_022169	
ADAM23	8745	hgsc.bcm.edu;ucsc.edu	37	2	207457434	207457434	+	Silent	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr2:207457434C>T	ENST00000264377.3	+	22	2380	c.2052C>T	c.(2050-2052)taC>taT	p.Y684Y	ADAM23_ENST00000374415.3_Silent_p.Y684Y|ADAM23_ENST00000374416.1_Silent_p.Y684Y	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	684					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CTTCCTTCTACCATCAAGGCC	0.373																																					Melanoma(194;1127 2130 19620 24042 27855)												0													157.0	132.0	140.0					2																	207457434		2203	4300	6503	SO:0001819	synonymous_variant	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.2052C>T	2.37:g.207457434C>T		Somatic		WXS	SOLID	Phase_I	A2RU59	Silent	SNP	ENST00000264377.3	37	CCDS2369.1																																																																																				0.373	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2		NM_003812	
ADAMTS18	170692	hgsc.bcm.edu;ucsc.edu	37	16	77465292	77465292	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr16:77465292G>T	ENST00000282849.5	-	3	813	c.395C>A	c.(394-396)gCt>gAt	p.A132D	ADAMTS18_ENST00000567121.1_5'UTR|RP11-449J10.1_ENST00000564358.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	132					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGTCTCTGAAGCACCATCTTT	0.473																																																	0													109.0	108.0	109.0					16																	77465292		2198	4300	6498	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.395C>A	16.37:g.77465292G>T	ENSP00000282849:p.Ala132Asp	Somatic		WXS	SOLID	Phase_I	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342858	0.24339	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	T;T	0.05996	3.36;3.36	5.93	3.75	0.43078	Peptidase M12B, propeptide (1);	0.268737	0.36893	N	0.002354	T	0.06142	0.0159	L	0.32530	0.975	0.28819	N	0.897824	P	0.37688	0.605	P	0.44422	0.449	T	0.21042	-1.0257	10	0.12430	T	0.62	.	6.877	0.24153	0.1198:0.1853:0.6949:0.0	.	132	Q8TE60	ATS18_HUMAN	D	132	ENSP00000282849:A132D;ENSP00000392540:A132D	ENSP00000282849:A132D	A	-	2	0	ADAMTS18	76022793	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.826000	0.55738	2.814000	0.96858	0.591000	0.81541	GCT		0.473	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			
APH1B	83464	hgsc.bcm.edu	37	15	63571478	63571478	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr15:63571478G>T	ENST00000261879.5	+	2	302	c.232G>T	c.(232-234)Gtc>Ttc	p.V78F	APH1B_ENST00000380343.4_Missense_Mutation_p.V78F	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	78					apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						TGGAGCGTTTGTCTCTGTCTA	0.363																																																	0													139.0	136.0	137.0					15																	63571478		2203	4300	6503	SO:0001583	missense	83464			AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"""anterior pharynx defective 1 homolog B (C. elegans)"""			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.232G>T	15.37:g.63571478G>T	ENSP00000261879:p.Val78Phe	Somatic		WXS	SOLID	Phase_I	A8K589|Q564N3|Q6UWQ1|Q9H0S0	Missense_Mutation	SNP	ENST00000261879.5	37	CCDS10184.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.005907	0.00426	.	.	ENSG00000138613	ENST00000380343;ENST00000261879	T;T	0.45668	0.89;0.89	4.89	-2.71	0.05986	.	0.739971	0.12350	N	0.476690	T	0.13072	0.0317	N	0.04508	-0.205	0.30151	N	0.803042	B;B	0.13145	0.007;0.002	B;B	0.14578	0.008;0.011	T	0.39099	-0.9630	10	0.02654	T	1	-0.6714	4.337	0.11090	0.0998:0.3195:0.4432:0.1375	.	78;78	Q564N3;Q8WW43	.;APH1B_HUMAN	F	78	ENSP00000369700:V78F;ENSP00000261879:V78F	ENSP00000261879:V78F	V	+	1	0	APH1B	61358531	0.040000	0.19996	0.010000	0.14722	0.010000	0.07245	0.084000	0.14891	-0.135000	0.11495	0.563000	0.77884	GTC		0.363	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256337.1		NM_031301	
APPL1	26060	hgsc.bcm.edu	37	3	57280129	57280129	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:57280129T>G	ENST00000288266.3	+	8	647	c.500T>G	c.(499-501)gTg>gGg	p.V167G		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	167	Required for RAB5A binding.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		ACAGAAGATGTGTACACATCC	0.284																																																	0													139.0	128.0	131.0					3																	57280129		2203	4299	6502	SO:0001583	missense	26060			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.500T>G	3.37:g.57280129T>G	ENSP00000288266:p.Val167Gly	Somatic		WXS	SOLID	Phase_I	Q9P2B9	Missense_Mutation	SNP	ENST00000288266.3	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.511545	0.85389	.	.	ENSG00000157500	ENST00000288266	T	0.04917	3.53	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.13329	0.0323	L	0.49350	1.555	0.80722	D	1	P;D	0.56746	0.801;0.977	B;P	0.50049	0.412;0.629	T	0.00316	-1.1823	10	0.87932	D	0	-26.9581	16.0334	0.80603	0.0:0.0:0.0:1.0	.	150;167	B4DQX8;Q9UKG1	.;DP13A_HUMAN	G	167	ENSP00000288266:V167G	ENSP00000288266:V167G	V	+	2	0	APPL1	57255169	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.948000	0.87774	2.243000	0.73865	0.533000	0.62120	GTG		0.284	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2		NM_012096	
ARID1A	8289	hgsc.bcm.edu;ucsc.edu	37	1	27099430	27099430	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:27099430C>T	ENST00000324856.7	+	14	4038	c.3667C>T	c.(3667-3669)Cgc>Tgc	p.R1223C	ARID1A_ENST00000374152.2_Missense_Mutation_p.R840C|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1223C|ARID1A_ENST00000540690.1_5'Flank	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1223					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.M1220fs*9(1)|p.M1220fs*2(1)|p.R1223C(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATGATGGGGCGCATGTCCTA	0.473			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	3	Deletion - Frameshift(2)|Substitution - Missense(1)	ovary(2)|large_intestine(1)											99.0	103.0	102.0					1																	27099430		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3667C>T	1.37:g.27099430C>T	ENSP00000320485:p.Arg1223Cys	Somatic		WXS	SOLID	Phase_I	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.76|15.76	2.927453|2.927453	0.52759|0.52759	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152	.|T;T;T	.|0.03553	.|4.04;3.89;3.89	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.16128|0.16128	0.0388|0.0388	M|M	0.67397|0.67397	2.05|2.05	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.997;0.993;0.997;0.993	T|T	0.00007|0.00007	-1.2495|-1.2495	5|10	.|0.87932	.|D	.|0	-8.6821|-8.6821	14.1221|14.1221	0.65195|0.65195	0.1499:0.8501:0.0:0.0|0.1499:0.8501:0.0:0.0	.|.	.|840;1223;1223;876	.|O14497-3;O14497;O14497-2;Q4LE49	.|.;ARI1A_HUMAN;.;.	V|C	119|1223;1223;840	.|ENSP00000320485:R1223C;ENSP00000387636:R1223C;ENSP00000363267:R840C	.|ENSP00000320485:R1223C	A|R	+|+	2|1	0|0	ARID1A|ARID1A	26972017|26972017	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.464000|5.464000	0.66719|0.66719	2.791000|2.791000	0.96007|0.96007	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135	
ARID4A	5926	hgsc.bcm.edu;ucsc.edu	37	14	58831047	58831047	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr14:58831047A>G	ENST00000355431.3	+	20	2613	c.2240A>G	c.(2239-2241)aAt>aGt	p.N747S	ARID4A_ENST00000395168.3_Missense_Mutation_p.N747S|ARID4A_ENST00000348476.3_Missense_Mutation_p.N747S|ARID4A_ENST00000431317.2_Missense_Mutation_p.N747S	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	747					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTAAAAGAAAATGATAGGACT	0.299																																																	0													49.0	60.0	56.0					14																	58831047		2185	4287	6472	SO:0001583	missense	5926			S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2240A>G	14.37:g.58831047A>G	ENSP00000347602:p.Asn747Ser	Somatic		WXS	SOLID	Phase_I	Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	A	2.778	-0.254238	0.05829	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.15139	2.53;2.52;2.52;2.52;2.45	5.8	2.05	0.26809	.	0.527040	0.21280	N	0.077176	T	0.11836	0.0288	L	0.27053	0.805	0.09310	N	1	P;P;P	0.49447	0.792;0.924;0.792	P;P;P	0.46796	0.496;0.527;0.496	T	0.14227	-1.0480	10	0.08837	T	0.75	-8.0243	7.9833	0.30196	0.5286:0.4024:0.069:0.0	.	747;747;747	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	S	747;747;747;747;425	ENSP00000347602:N747S;ENSP00000344556:N747S;ENSP00000378597:N747S;ENSP00000397368:N747S;ENSP00000416053:N425S	ENSP00000344556:N747S	N	+	2	0	ARID4A	57900800	0.939000	0.31865	0.361000	0.25849	0.160000	0.22226	1.737000	0.38197	0.407000	0.25591	0.528000	0.53228	AAT		0.299	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2		NM_023001	
ARPC5L	81873	hgsc.bcm.edu;ucsc.edu	37	9	127637307	127637307	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr9:127637307G>T	ENST00000353214.2	+	5	1528	c.276G>T	c.(274-276)gaG>gaT	p.E92D	ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Missense_Mutation_p.E92D			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like	92					regulation of actin filament polymerization (GO:0030833)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)				large_intestine(2)|lung(1)	3						AGAGCAGTGAGATTGAGCAGG	0.512																																																	0													119.0	109.0	113.0					9																	127637307		2203	4300	6503	SO:0001583	missense	81873			AF087842	CCDS6859.1	9q34.11	2011-07-06			ENSG00000136950	ENSG00000136950		"""Actin related protein 2/3 complex subunits"""	23366	protein-coding gene	gene with protein product							Standard	NM_030978		Approved	MGC3038, ARC16-2	uc004bpa.4	Q9BPX5	OTTHUMG00000020660	ENST00000353214.2:c.276G>T	9.37:g.127637307G>T	ENSP00000345361:p.Glu92Asp	Somatic		WXS	SOLID	Phase_I	Q7Z523	Missense_Mutation	SNP	ENST00000353214.2	37	CCDS6859.1	.	.	.	.	.	.	.	.	.	.	G	7.012	0.556899	0.13436	.	.	ENSG00000136950	ENST00000353214;ENST00000259477	.	.	.	5.97	-6.24	0.02046	.	0.064429	0.64402	D	0.000004	T	0.19127	0.0459	N	0.01410	-0.885	0.37130	D	0.901237	B;B	0.12630	0.004;0.006	B;B	0.21360	0.01;0.034	T	0.06356	-1.0831	9	0.87932	D	0	-14.5763	10.5865	0.45286	0.3:0.194:0.506:0.0	.	92;92	B3KPC7;Q9BPX5	.;ARP5L_HUMAN	D	92	.	ENSP00000259477:E92D	E	+	3	2	ARPC5L	126677128	0.044000	0.20184	0.937000	0.37676	0.847000	0.48162	-0.614000	0.05604	-0.620000	0.05641	-0.302000	0.09304	GAG		0.512	ARPC5L-002	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054041.1		NM_030978	
ATM	472	hgsc.bcm.edu;ucsc.edu	37	11	108206594	108206594	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:108206594A>G	ENST00000452508.2	+	57	8363	c.8174A>G	c.(8173-8175)gAt>gGt	p.D2725G	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.D2725G			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2725	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		D -> G (in T-prolymphocytic leukemia). {ECO:0000269|PubMed:9334731}.|D -> V (in T-prolymphocytic leukemia). {ECO:0000269|PubMed:9288106}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.D2725V(2)|p.D2725G(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CTGAGACAAGATGCTGTCATG	0.353			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)											108.0	99.0	102.0					11																	108206594		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8174A>G	11.37:g.108206594A>G	ENSP00000388058:p.Asp2725Gly	Somatic		WXS	SOLID	Phase_I	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	29.0	4.968135	0.92855	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.91068	-2.78;-2.78	5.56	5.56	0.83823	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99184	1.0868	10	0.87932	D	0	.	15.7045	0.77565	1.0:0.0:0.0:0.0	.	2725	Q13315	ATM_HUMAN	G	2725	ENSP00000278616:D2725G;ENSP00000388058:D2725G	ENSP00000278616:D2725G	D	+	2	0	ATM	107711804	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.809000	0.91944	2.125000	0.65367	0.533000	0.62120	GAT		0.353	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051	
C10orf35	219738	hgsc.bcm.edu;ucsc.edu	37	10	71391583	71391583	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr10:71391583C>G	ENST00000373279.4	+	3	243	c.84C>G	c.(82-84)agC>agG	p.S28R	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	28						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CAAGAGGTAGCATTCCTCGAC	0.572																																																	0													149.0	113.0	125.0					10																	71391583		2203	4300	6503	SO:0001583	missense	219738			BC013587	CCDS7295.1	10q22.2	2003-11-21			ENSG00000171224	ENSG00000171224			23519	protein-coding gene	gene with protein product						12477932	Standard	NM_145306		Approved		uc001jpq.4	Q96D05	OTTHUMG00000018383	ENST00000373279.4:c.84C>G	10.37:g.71391583C>G	ENSP00000362376:p.Ser28Arg	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000373279.4	37	CCDS7295.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359459	0.61403	.	.	ENSG00000171224	ENST00000373279;ENST00000421716	.	.	.	5.25	2.35	0.29111	.	0.271434	0.31323	N	0.007849	T	0.14442	0.0349	N	0.03608	-0.345	0.09310	N	1	B	0.21905	0.062	B	0.22601	0.04	T	0.27806	-1.0063	9	0.15499	T	0.54	-1.7546	9.1332	0.36857	0.0:0.7494:0.0:0.2506	.	28	Q96D05	CJ035_HUMAN	R	28;70	.	ENSP00000362376:S28R	S	+	3	2	C10orf35	71061589	0.000000	0.05858	0.023000	0.16930	0.591000	0.36615	0.188000	0.17018	0.611000	0.30052	0.313000	0.20887	AGC		0.572	C10orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048454.1		NM_145306	
KANSL2	54934	hgsc.bcm.edu;ucsc.edu	37	12	49063049	49063049	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr12:49063049C>T	ENST00000420613.2	-	6	763	c.716G>A	c.(715-717)aGt>aAt	p.S239N	SNORA2B_ENST00000384583.1_RNA|KANSL2_ENST00000553086.1_Missense_Mutation_p.S239N|KANSL2_ENST00000357861.3_Missense_Mutation_p.S44N|KANSL2_ENST00000550347.1_Missense_Mutation_p.S422N	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	239					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											AGTCAGGAGACTACTGCCTAG	0.463																																																	0													46.0	42.0	43.0					12																	49063049		1890	4118	6008	SO:0001583	missense	0			AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.716G>A	12.37:g.49063049C>T	ENSP00000415436:p.Ser239Asn	Somatic		WXS	SOLID	Phase_I	Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	37	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620967	0.87460	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000553086;ENST00000357861	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.61999	0.2392	L	0.58101	1.795	0.58432	D	0.999999	D;D;D	0.89917	0.985;0.98;1.0	P;P;D	0.71870	0.79;0.578;0.975	T	0.62025	-0.6941	10	0.56958	D	0.05	.	18.2601	0.90033	0.0:1.0:0.0:0.0	.	422;239;44	F8VX10;Q9H9L4;Q9H9L4-2	.;CL041_HUMAN;.	N	422;239;239;44	ENSP00000449747:S422N;ENSP00000415436:S239N;ENSP00000448833:S239N;ENSP00000350527:S44N	ENSP00000350527:S44N	S	-	2	0	C12orf41	47349316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.779000	0.75057	2.593000	0.87608	0.561000	0.74099	AGT		0.463	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1		NM_017822	
CACNA1A	773	hgsc.bcm.edu;ucsc.edu	37	19	13419273	13419273	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr19:13419273C>T	ENST00000360228.5	-	13	1737	c.1738G>A	c.(1738-1740)Gtg>Atg	p.V580M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V581M	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	581					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)	GCTCGTAACACGCTGATTCCA	0.502																																																	0			GRCh37	CM086792	CACNA1A	M							70.0	65.0	66.0					19																	13419273		2011	4192	6203	SO:0001583	missense	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.1738G>A	19.37:g.13419273C>T	ENSP00000353362:p.Val580Met	Somatic		WXS	SOLID	Phase_I	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788996	0.70337	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98807	-5.15	5.53	5.53	0.82687	Ion transport (1);	0.152176	0.42420	D	0.000707	D	0.99299	0.9755	M	0.90369	3.11	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.99222	1.0879	10	0.72032	D	0.01	.	18.2248	0.89914	0.0:1.0:0.0:0.0	.	581;581;580	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	M	580;581;581;581	ENSP00000353362:V580M	ENSP00000317661:V581M	V	-	1	0	CACNA1A	13280273	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.747000	0.85070	2.601000	0.87937	0.563000	0.77884	GTG		0.502	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2		NM_000068	
CADM2	253559	hgsc.bcm.edu	37	3	85851255	85851255	+	Silent	SNP	A	A	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:85851255A>C	ENST00000407528.2	+	2	182	c.120A>C	c.(118-120)gcA>gcC	p.A40A	CADM2_ENST00000383699.3_Silent_p.A49A|CADM2-AS2_ENST00000467225.1_RNA|CADM2_ENST00000405615.2_Silent_p.A42A	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	40	Ig-like V-type.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTGGAACTGCAATTTTGACCT	0.413																																																	0													98.0	82.0	87.0					3																	85851255		2203	4300	6503	SO:0001819	synonymous_variant	253559			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.120A>C	3.37:g.85851255A>C		Somatic		WXS	SOLID	Phase_I	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Silent	SNP	ENST00000407528.2	37	CCDS54614.1																																																																																				0.413	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1		NM_153184	
CC2D2B	387707	hgsc.bcm.edu;ucsc.edu	37	10	97791691	97791691	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr10:97791691G>T	ENST00000344386.3	+	9	1059	c.895G>T	c.(895-897)Gta>Tta	p.V299L	ENTPD1-AS1_ENST00000416301.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|CC2D2B_ENST00000410012.2_Missense_Mutation_p.V378L|ENTPD1-AS1_ENST00000449197.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000458228.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	299										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TGCTTTAGCTGTATACATTCA	0.373																																																	0													143.0	126.0	132.0					10																	97791691		1844	4099	5943	SO:0001583	missense	387707			BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.895G>T	10.37:g.97791691G>T	ENSP00000343747:p.Val299Leu	Somatic		WXS	SOLID	Phase_I	A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Missense_Mutation	SNP	ENST00000344386.3	37	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873284	0.91664	.	.	ENSG00000188649	ENST00000451649;ENST00000344386	T	0.71817	-0.6	6.04	6.04	0.98038	.	.	.	.	.	D	0.86096	0.5851	M	0.83774	2.66	0.47905	D	0.99954	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	D	0.86674	0.1912	9	0.72032	D	0.01	.	19.3663	0.94464	0.0:0.0:1.0:0.0	.	378;299	E9PCC3;Q6DHV5	.;C2D2B_HUMAN	L	378;299	ENSP00000343747:V299L	ENSP00000343747:V299L	V	+	1	0	CC2D2B	97781681	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	9.405000	0.97313	2.873000	0.98535	0.563000	0.77884	GTA		0.373	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3		NM_001001732	
CDH19	28513	hgsc.bcm.edu;ucsc.edu	37	18	64172301	64172301	+	Silent	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr18:64172301G>A	ENST00000262150.2	-	12	2359	c.2067C>T	c.(2065-2067)ggC>ggT	p.G689G	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CACTGTCGGGGCCAACTTGCA	0.498																																																	0													155.0	149.0	151.0					18																	64172301		2203	4300	6503	SO:0001819	synonymous_variant	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2067C>T	18.37:g.64172301G>A		Somatic		WXS	SOLID	Phase_I	O15098	Silent	SNP	ENST00000262150.2	37	CCDS11994.1																																																																																				0.498	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1		NM_021153	
CES2	8824	hgsc.bcm.edu;ucsc.edu	37	16	66972074	66972074	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr16:66972074C>A	ENST00000317091.4	+	2	1387	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	CES2_ENST00000417689.1_Missense_Mutation_p.L135M	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	71					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	TCTAGGTCCGCTGCGATTTGC	0.607																																					Ovarian(70;1230 1691 37888 38351)												0													95.0	88.0	90.0					16																	66972074		2200	4300	6500	SO:0001583	missense	8824			BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.403C>A	16.37:g.66972074C>A	ENSP00000317842:p.Leu135Met	Somatic		WXS	SOLID	Phase_I	A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	ENST00000317091.4	37	CCDS10825.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251787	0.59212	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.74002	-0.8;-0.8	5.49	2.52	0.30459	Carboxylesterase, type B (1);	0.000000	0.41500	D	0.000874	D	0.87313	0.6146	M	0.93197	3.39	0.31371	N	0.680164	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.85688	0.1305	10	0.87932	D	0	.	8.0331	0.30476	0.0:0.6871:0.0:0.3129	.	71;135	O00748;A8K367	EST2_HUMAN;.	M	135	ENSP00000394452:L135M;ENSP00000317842:L135M	ENSP00000317842:L135M	L	+	1	2	CES2	65529575	0.005000	0.15991	0.064000	0.19789	0.492000	0.33523	0.124000	0.15728	0.457000	0.26962	0.650000	0.86243	CTG		0.607	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268838.2		NM_003869	
CHIT1	1118	hgsc.bcm.edu	37	1	203186979	203186979	+	Missense_Mutation	SNP	C	C	G	rs140228721	byFrequency	TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:203186979C>G	ENST00000367229.1	-	10	1078	c.1044G>C	c.(1042-1044)aaG>aaC	p.K348N	CHIT1_ENST00000255427.3_Missense_Mutation_p.K329N|CHIT1_ENST00000535569.1_Missense_Mutation_p.K339N|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	348					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GTCCCTTCTGCTTCAGATAGC	0.642																																																	0													42.0	34.0	36.0					1																	203186979		2203	4300	6503	SO:0001583	missense	1118			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1044G>C	1.37:g.203186979C>G	ENSP00000356198:p.Lys348Asn	Somatic		WXS	SOLID	Phase_I	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416720	0.42918	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.08458	3.09;3.09;3.09	4.62	1.66	0.24008	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.480369	0.17438	N	0.174238	T	0.24624	0.0597	M	0.77712	2.385	0.48452	D	0.999658	D;D	0.89917	0.993;1.0	P;D	0.80764	0.631;0.994	T	0.00501	-1.1702	10	0.54805	T	0.06	-11.2974	7.92	0.29839	0.0:0.7127:0.0:0.2873	.	339;348	G5EA51;Q13231	.;CHIT1_HUMAN	N	348;329;339	ENSP00000356198:K348N;ENSP00000255427:K329N;ENSP00000438078:K339N	ENSP00000255427:K329N	K	-	3	2	CHIT1	201453602	1.000000	0.71417	0.962000	0.40283	0.371000	0.29859	0.995000	0.29706	0.130000	0.18549	0.563000	0.77884	AAG		0.642	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2		NM_003465	
CNGA3	1261	hgsc.bcm.edu	37	2	98994250	98994250	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr2:98994250C>A	ENST00000272602.2	+	2	241	c.202C>A	c.(202-204)Cag>Aag	p.Q68K	CNGA3_ENST00000393504.1_Missense_Mutation_p.Q68K|CNGA3_ENST00000409937.1_Missense_Mutation_p.Q17K|CNGA3_ENST00000436404.2_Missense_Mutation_p.Q68K			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	68					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTTCACCGGCCAGGGGATCGC	0.597																																																	0													25.0	23.0	24.0					2																	98994250		2203	4300	6503	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.202C>A	2.37:g.98994250C>A	ENSP00000272602:p.Gln68Lys	Somatic		WXS	SOLID	Phase_I	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974399	0.34848	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	T;T;T;D	0.98762	0.89;0.89;0.89;-5.12	5.01	4.14	0.48551	.	10.923100	0.00357	N	0.000029	D	0.96883	0.8982	L	0.60455	1.87	0.09310	N	1	B;B;B	0.22480	0.07;0.013;0.008	B;B;B	0.13407	0.009;0.006;0.006	D	0.88063	0.2795	10	0.06891	T	0.86	.	6.5331	0.22338	0.178:0.7311:0.0:0.0909	.	17;68;68	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	K	68;68;68;17	ENSP00000377140:Q68K;ENSP00000410070:Q68K;ENSP00000272602:Q68K;ENSP00000386761:Q17K	ENSP00000272602:Q68K	Q	+	1	0	CNGA3	98360682	0.780000	0.28664	0.063000	0.19743	0.013000	0.08279	1.748000	0.38308	1.471000	0.48121	0.655000	0.94253	CAG		0.597	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1		NM_001298	
CNR1	1268	hgsc.bcm.edu;ucsc.edu	37	6	88853921	88853921	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr6:88853921G>T	ENST00000537554.1	-	2	4635	c.1073C>A	c.(1072-1074)cCt>cAt	p.P358H	CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Missense_Mutation_p.P358H|CNR1_ENST00000369501.2_Missense_Mutation_p.P358H|CNR1_ENST00000428600.2_Missense_Mutation_p.P358H|CNR1_ENST00000549890.1_Missense_Mutation_p.P358H|CNR1_ENST00000535130.1_Missense_Mutation_p.P358H|CNR1_ENST00000468898.1_Missense_Mutation_p.P325H|CNR1_ENST00000549716.1_Missense_Mutation_p.P297H	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	358					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGCAAGCAGAGGGCCCCAGCA	0.532																																																	0													133.0	141.0	138.0					6																	88853921		2203	4300	6503	SO:0001583	missense	1268			AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.1073C>A	6.37:g.88853921G>T	ENSP00000441046:p.Pro358His	Somatic		WXS	SOLID	Phase_I	B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790370	0.70337	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	6.05	6.05	0.98169	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.92227	0.7535	M	0.92077	3.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92741	0.6208	10	0.87932	D	0	.	20.6086	0.99469	0.0:0.0:1.0:0.0	.	325;358	P21554-3;P21554	.;CNR1_HUMAN	H	358;358;358;358;358;325;358;297	ENSP00000358513:P358H;ENSP00000442689:P358H;ENSP00000441046:P358H;ENSP00000358511:P358H;ENSP00000446819:P358H;ENSP00000420188:P325H;ENSP00000412192:P358H;ENSP00000449549:P297H	ENSP00000358511:P358H	P	-	2	0	CNR1	88910640	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.869000	0.99810	2.880000	0.98712	0.655000	0.94253	CCT		0.532	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			
CNTN5	53942	hgsc.bcm.edu;ucsc.edu	37	11	100211348	100211348	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:100211348A>G	ENST00000524871.1	+	22	3174	c.2884A>G	c.(2884-2886)Agc>Ggc	p.S962G	CNTN5_ENST00000528682.1_Missense_Mutation_p.S962G|CNTN5_ENST00000418526.2_Missense_Mutation_p.S888G|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.S962G	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	962	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGGCCACCTAGCAGTGAAGT	0.438																																																	0													79.0	76.0	77.0					11																	100211348		1906	4123	6029	SO:0001583	missense	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2884A>G	11.37:g.100211348A>G	ENSP00000435637:p.Ser962Gly	Somatic		WXS	SOLID	Phase_I	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.253816	0.59212	.	.	ENSG00000149972	ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	5.12	5.12	0.69794	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.230192	0.50627	D	0.000104	T	0.78830	0.4345	M	0.87038	2.855	0.53688	D	0.999979	P;P	0.44429	0.802;0.835	B;P	0.46685	0.389;0.524	T	0.81970	-0.0689	9	.	.	.	.	14.1006	0.65051	1.0:0.0:0.0:0.0	.	888;962	O94779-2;O94779	.;CNTN5_HUMAN	G	962;962;888;962	ENSP00000436185:S962G;ENSP00000435637:S962G;ENSP00000393229:S888G;ENSP00000279463:S962G	.	S	+	1	0	CNTN5	99716558	1.000000	0.71417	0.929000	0.37066	0.884000	0.51177	6.474000	0.73578	1.926000	0.55796	0.533000	0.62120	AGC		0.438	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2		NM_014361	
CRELD1	78987	hgsc.bcm.edu	37	3	9984520	9984520	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:9984520G>T	ENST00000383811.3	+	7	1356	c.757G>T	c.(757-759)Gga>Tga	p.G253*	CRELD1_ENST00000397170.3_Nonsense_Mutation_p.G253*|CRELD1_ENST00000326434.5_Nonsense_Mutation_p.G253*|CRELD1_ENST00000452070.1_Nonsense_Mutation_p.G253*|CRELD1_ENST00000489674.1_3'UTR	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	253					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TGGCACAGAGGGAGCCAACTG	0.542																																																	0													109.0	95.0	100.0					3																	9984520		2203	4300	6503	SO:0001587	stop_gained	78987			AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.757G>T	3.37:g.9984520G>T	ENSP00000373322:p.Gly253*	Somatic		WXS	SOLID	Phase_I	A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Nonsense_Mutation	SNP	ENST00000383811.3	37	CCDS2593.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.25|15.25	2.779114|2.779114	0.49891|0.49891	.|.	.|.	ENSG00000163703|ENSG00000163703	ENST00000435417|ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	.|.	.|.	.|.	4.74|4.74	1.33|1.33	0.21861|0.21861	.|.	0.672928|0.672928	0.13376|0.13376	N|N	0.392493|0.392493	T|.	0.41766|.	0.1173|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.50030|.	-0.8875|.	4|.	.|.	.|.	.|.	.|.	8.0373|8.0373	0.30499|0.30499	0.3876:0.4839:0.1285:0.0|0.3876:0.4839:0.1285:0.0	.|.	.|.	.|.	.|.	V|X	15|253	.|.	.|.	G|G	+|+	2|1	0|0	CRELD1|CRELD1	9959520|9959520	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.457000|0.457000	0.32468|0.32468	0.351000|0.351000	0.20096|0.20096	0.395000|0.395000	0.25257|0.25257	-1.310000|-1.310000	0.01310|0.01310	GGG|GGA		0.542	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1		NM_015513	
CRYBG3	131544	hgsc.bcm.edu;ucsc.edu	37	3	97617751	97617751	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:97617751C>A	ENST00000182096.4	+	10	1946	c.1882C>A	c.(1882-1884)Cta>Ata	p.L628I		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2576							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TTCTGTCACACTATTTGAATC	0.313																																																	0													73.0	64.0	67.0					3																	97617751		1793	4069	5862	SO:0001583	missense	131544					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.1882C>A	3.37:g.97617751C>A	ENSP00000182096:p.Leu628Ile	Somatic		WXS	SOLID	Phase_I	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37		.	.	.	.	.	.	.	.	.	.	C	21.9	4.209407	0.79240	.	.	ENSG00000080200	ENST00000182096	T	0.81163	-1.46	5.57	5.57	0.84162	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.000000	0.41823	D	0.000819	D	0.84611	0.5510	L	0.33792	1.035	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.81320	-0.0986	10	0.26408	T	0.33	.	18.6672	0.91495	0.0:1.0:0.0:0.0	.	628	Q68DQ2	CRBG3_HUMAN	I	628	ENSP00000182096:L628I	ENSP00000182096:L628I	L	+	1	2	CRYBG3	99100441	0.978000	0.34361	1.000000	0.80357	0.980000	0.70556	1.552000	0.36244	2.779000	0.95612	0.591000	0.81541	CTA		0.313	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1		NM_153605	
DMXL2	23312	hgsc.bcm.edu;ucsc.edu	37	15	51790800	51790800	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr15:51790800C>A	ENST00000251076.5	-	18	4908	c.4621G>T	c.(4621-4623)Gtg>Ttg	p.V1541L	DMXL2_ENST00000543779.2_Missense_Mutation_p.V1541L|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Intron	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1541						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTAGTAGCCACTGTATCAGCC	0.393																																																	0													86.0	81.0	83.0					15																	51790800		2195	4293	6488	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4621G>T	15.37:g.51790800C>A	ENSP00000251076:p.Val1541Leu	Somatic		WXS	SOLID	Phase_I	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.814371	0.70912	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.55930	0.49;0.49	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	L	0.35593	1.075	0.80722	D	1	B;D	0.71674	0.222;0.998	B;D	0.80764	0.059;0.994	T	0.62793	-0.6779	10	0.44086	T	0.13	.	19.8949	0.96954	0.0:1.0:0.0:0.0	.	1541;1541	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	L	1541	ENSP00000251076:V1541L;ENSP00000441858:V1541L	ENSP00000251076:V1541L	V	-	1	0	DMXL2	49578092	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.739000	0.68622	2.712000	0.92718	0.484000	0.47621	GTG		0.393	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2		NM_015263	
DNAH2	146754	hgsc.bcm.edu;ucsc.edu	37	17	7671377	7671377	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr17:7671377A>G	ENST00000572933.1	+	23	5295	c.3835A>G	c.(3835-3837)Aag>Gag	p.K1279E	DNAH2_ENST00000389173.2_Missense_Mutation_p.K1279E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1279	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAAAGAGTATAAGGTGGGGAG	0.582																																																	0													53.0	58.0	56.0					17																	7671377		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3835A>G	17.37:g.7671377A>G	ENSP00000458355:p.Lys1279Glu	Somatic		WXS	SOLID	Phase_I	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.659289	0.88154	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.62105	0.05	4.27	4.27	0.50696	Dynein heavy chain, domain-2 (1);	0.125790	0.51477	D	0.000081	T	0.67906	0.2943	M	0.67625	2.065	0.80722	D	1	B	0.33379	0.41	P	0.44647	0.456	T	0.69687	-0.5078	10	0.49607	T	0.09	.	12.3787	0.55295	1.0:0.0:0.0:0.0	.	1279	Q9P225	DYH2_HUMAN	E	1279	ENSP00000373825:K1279E	ENSP00000353818:K1279E	K	+	1	0	DNAH2	7612102	1.000000	0.71417	0.870000	0.34147	0.921000	0.55340	5.363000	0.66104	1.571000	0.49722	0.402000	0.26972	AAG		0.582	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1		NM_020877	
DNAH3	55567	hgsc.bcm.edu;ucsc.edu	37	16	21065766	21065766	+	Silent	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr16:21065766C>T	ENST00000261383.3	-	28	4013	c.4014G>A	c.(4012-4014)ggG>ggA	p.G1338G	DNAH3_ENST00000415178.1_Silent_p.G1338G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1338	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.G1338G(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCGTGAGGGCCCCGAGAGTGA	0.547																																																	2	Substitution - coding silent(2)	lung(2)											78.0	65.0	69.0					16																	21065766		2201	4300	6501	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4014G>A	16.37:g.21065766C>T		Somatic		WXS	SOLID	Phase_I	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																				0.547	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539	
DNHD1	144132	hgsc.bcm.edu	37	11	6567885	6567885	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:6567885A>C	ENST00000527990.2	+	19	5716	c.5716A>C	c.(5716-5718)Att>Ctt	p.I1906L	DNHD1_ENST00000254579.6_Missense_Mutation_p.I1906L			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1906					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTAGCTGCCATTGAGGAGGC	0.567																																																	0													55.0	47.0	49.0					11																	6567885		692	1591	2283	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.5716A>C	11.37:g.6567885A>C	ENSP00000436180:p.Ile1906Leu	Somatic		WXS	SOLID	Phase_I	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	A	2.922	-0.222999	0.06061	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000533649	T;T	0.25250	1.81;1.81	4.96	-4.29	0.03721	.	1.638700	0.02715	N	0.113362	T	0.15825	0.0381	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14699	-1.0463	10	0.27082	T	0.32	.	3.7438	0.08540	0.3642:0.1153:0.408:0.1125	.	1906	Q96M86	DNHD1_HUMAN	L	1906;1906;197	ENSP00000254579:I1906L;ENSP00000436180:I1906L	ENSP00000254579:I1906L	I	+	1	0	DNHD1	6524461	0.000000	0.05858	0.000000	0.03702	0.271000	0.26615	-0.137000	0.10389	-0.691000	0.05135	-0.250000	0.11733	ATT		0.567	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2		NM_144666	
DNHD1	144132	hgsc.bcm.edu	37	11	6567893	6567895	+	In_Frame_Del	DEL	GGC	GGC	-	rs74053417|rs74053416|rs11268490|rs11270441	byFrequency	TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	GGC	GGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:6567893_6567895delGGC	ENST00000527990.2	+	19	5724_5726	c.5724_5726delGGC	c.(5722-5727)gaggct>gat	p.1908_1909EA>D	DNHD1_ENST00000254579.6_In_Frame_Del_p.1908_1909EA>D			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1908				A -> AALLH (in Ref. 5; BAB85004 and 6; CAB70845). {ECO:0000305}.	microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCATTGAGGAGGCTGCCCTACTG	0.557																																																	0																																										SO:0001651	inframe_deletion	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.5724_5726delGGC	11.37:g.6567893_6567895delGGC	ENSP00000436180:p.Glu1908_Ala1909delinsAsp	Somatic		WXS	SOLID	Phase_I	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	In_Frame_Del	DEL	ENST00000527990.2	37	CCDS44532.1																																																																																				0.557	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2		NM_144666	
DOCK3	1795	hgsc.bcm.edu;ucsc.edu	37	3	51376390	51376390	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:51376390A>G	ENST00000266037.9	+	37	3720	c.3697A>G	c.(3697-3699)Aag>Gag	p.K1233E		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1233	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGAGATTAACAAGGAAGAAAT	0.453																																																	0													48.0	46.0	46.0					3																	51376390		1907	4138	6045	SO:0001583	missense	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3697A>G	3.37:g.51376390A>G	ENSP00000266037:p.Lys1233Glu	Somatic		WXS	SOLID	Phase_I	O15017	Missense_Mutation	SNP	ENST00000266037.9	37	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268408	0.80469	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.56611	0.45	5.0	5.0	0.66597	.	0.122244	0.85682	D	0.000000	T	0.56262	0.1973	M	0.72118	2.19	0.80722	D	1	P	0.45474	0.859	B	0.43155	0.41	T	0.63079	-0.6717	10	0.54805	T	0.06	.	14.8796	0.70522	1.0:0.0:0.0:0.0	.	1233	Q8IZD9	DOCK3_HUMAN	E	1233;29	ENSP00000266037:K1233E	ENSP00000266037:K1233E	K	+	1	0	DOCK3	51351430	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.139000	0.94554	2.106000	0.64143	0.528000	0.53228	AAG		0.453	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5		NM_004947	
EPC2	26122	hgsc.bcm.edu;ucsc.edu	37	2	149528431	149528431	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr2:149528431G>T	ENST00000258484.6	+	9	1335	c.1301G>T	c.(1300-1302)aGg>aTg	p.R434M		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	434					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TTGAGGTATAGGCATTGCCTT	0.393																																																	0													132.0	129.0	130.0					2																	149528431		1877	4129	6006	SO:0001583	missense	26122			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1301G>T	2.37:g.149528431G>T	ENSP00000258484:p.Arg434Met	Somatic		WXS	SOLID	Phase_I	B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.151090	0.78001	.	.	ENSG00000135999	ENST00000258484	T	0.31769	1.48	5.76	4.88	0.63580	.	0.092812	0.64402	D	0.000001	T	0.53384	0.1793	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.57980	-0.7717	10	0.87932	D	0	-0.7848	14.2328	0.65906	0.0726:0.0:0.9274:0.0	.	434	Q52LR7	EPC2_HUMAN	M	434	ENSP00000258484:R434M	ENSP00000258484:R434M	R	+	2	0	EPC2	149244901	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.911000	0.75746	1.546000	0.49388	0.650000	0.86243	AGG		0.393	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1		NM_015630	
EZH1	2145	hgsc.bcm.edu;ucsc.edu	37	17	40857163	40857163	+	Silent	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr17:40857163G>A	ENST00000428826.2	-	17	1999	c.1878C>T	c.(1876-1878)ggC>ggT	p.G626G	EZH1_ENST00000590078.1_Silent_p.G556G|EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000592743.1_Silent_p.G626G|EZH1_ENST00000435174.1_Silent_p.G487G|EZH1_ENST00000585893.1_Silent_p.G586G|EZH1_ENST00000415827.2_Silent_p.G617G			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	626	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTATGAAGGTGCCCCATCCGG	0.552																																																	0													71.0	68.0	69.0					17																	40857163		2203	4300	6503	SO:0001819	synonymous_variant	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1878C>T	17.37:g.40857163G>A		Somatic		WXS	SOLID	Phase_I	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Silent	SNP	ENST00000428826.2	37	CCDS32659.1																																																																																				0.552	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1		NM_001991	
F12	2161	hgsc.bcm.edu	37	5	176832389	176832389	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr5:176832389A>C	ENST00000253496.3	-	5	380	c.332T>G	c.(331-333)gTg>gGg	p.V111G	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	111	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	TGGCATGTTCACACAGGTCCC	0.597									Hereditary Angioedema																																								0													78.0	71.0	73.0					5																	176832389		2203	4300	6503	SO:0001583	missense	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.332T>G	5.37:g.176832389A>C	ENSP00000253496:p.Val111Gly	Somatic		WXS	SOLID	Phase_I	P78339	Missense_Mutation	SNP	ENST00000253496.3	37	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908406	0.52333	.	.	ENSG00000131187	ENST00000253496	D	0.93366	-3.21	5.91	4.76	0.60689	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.372094	0.19953	N	0.102385	D	0.94102	0.8109	M	0.73217	2.22	0.50313	D	0.999863	D	0.65815	0.995	P	0.60415	0.874	D	0.92168	0.5741	10	0.33940	T	0.23	.	4.8405	0.13487	0.7508:0.0:0.0844:0.1648	.	111	P00748	FA12_HUMAN	G	111	ENSP00000253496:V111G	ENSP00000253496:V111G	V	-	2	0	F12	176764995	1.000000	0.71417	0.993000	0.49108	0.330000	0.28571	1.650000	0.37292	2.254000	0.74563	0.533000	0.62120	GTG		0.597	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			
FANCA	2175	hgsc.bcm.edu;ucsc.edu	37	16	89807257	89807257	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr16:89807257G>T	ENST00000389301.3	-	38	3813	c.3783C>A	c.(3781-3783)ttC>ttA	p.F1261L	ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.F1261L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1261					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGGAGAAGAAGAAAAGGAAAA	0.433			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	0													85.0	79.0	81.0					16																	89807257		2198	4300	6498	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3783C>A	16.37:g.89807257G>T	ENSP00000373952:p.Phe1261Leu	Somatic		WXS	SOLID	Phase_I	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	8.245	0.807787	0.16467	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.83335	-1.71	5.21	-4.63	0.03359	.	0.194961	0.35936	N	0.002883	T	0.66548	0.2800	L	0.38531	1.155	0.49213	D	0.999765	B;B;B	0.30281	0.275;0.031;0.031	B;B;B	0.29785	0.107;0.038;0.022	T	0.44636	-0.9315	10	0.21540	T	0.41	-11.5383	6.6834	0.23132	0.1142:0.1107:0.6746:0.1006	.	238;1261;1261	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	L	1261;238	ENSP00000373952:F1261L	ENSP00000306281:F238L	F	-	3	2	FANCA	88334758	0.416000	0.25424	0.033000	0.17914	0.880000	0.50808	-0.675000	0.05227	-1.140000	0.02877	-0.367000	0.07326	TTC		0.433	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			
GAD2	2572	hgsc.bcm.edu;ucsc.edu	37	10	26534856	26534856	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr10:26534856T>C	ENST00000376261.3	+	8	1350	c.847T>C	c.(847-849)Ttt>Ctt	p.F283L	GAD2_ENST00000259271.3_Missense_Mutation_p.F283L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	283					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACAGAGTCATTTTTCTCTCAA	0.388																																																	0													80.0	77.0	78.0					10																	26534856		2203	4300	6503	SO:0001583	missense	2572			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.847T>C	10.37:g.26534856T>C	ENSP00000365437:p.Phe283Leu	Somatic		WXS	SOLID	Phase_I	Q9UD87	Missense_Mutation	SNP	ENST00000376261.3	37	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.527183	0.64860	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.37752	1.18;1.18	5.2	5.2	0.72013	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	M	0.69358	2.11	0.80722	D	1	B	0.27068	0.167	B	0.29524	0.103	T	0.39800	-0.9596	10	0.87932	D	0	-18.0347	14.0313	0.64617	0.0:0.0:0.0:1.0	.	283	Q05329	DCE2_HUMAN	L	283	ENSP00000365437:F283L;ENSP00000259271:F283L	ENSP00000259271:F283L	F	+	1	0	GAD2	26574862	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.123000	0.71614	1.941000	0.56285	0.528000	0.53228	TTT		0.388	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1		NM_000818	
GALNT5	11227	hgsc.bcm.edu;ucsc.edu	37	2	158114714	158114714	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr2:158114714C>G	ENST00000259056.4	+	1	605	c.120C>G	c.(118-120)atC>atG	p.I40M		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	40					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TCAGTGAGATCAACACTCGGG	0.468																																																	0													123.0	126.0	125.0					2																	158114714		2203	4300	6503	SO:0001583	missense	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.120C>G	2.37:g.158114714C>G	ENSP00000259056:p.Ile40Met	Somatic		WXS	SOLID	Phase_I	A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.418905	0.62622	.	.	ENSG00000136542	ENST00000259056	T	0.63417	-0.04	5.36	4.25	0.50352	.	0.278603	0.26203	N	0.025726	T	0.63414	0.2509	L	0.34521	1.04	0.28733	N	0.902395	D	0.60575	0.988	P	0.56398	0.797	T	0.60910	-0.7169	10	0.87932	D	0	.	12.5162	0.56034	0.0:0.8833:0.0:0.1167	.	40	Q7Z7M9	GALT5_HUMAN	M	40	ENSP00000259056:I40M	ENSP00000259056:I40M	I	+	3	3	GALNT5	157822960	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.651000	0.24873	2.671000	0.90904	0.655000	0.94253	ATC		0.468	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2		NM_014568	
GOLGA5	9950	hgsc.bcm.edu	37	14	93276655	93276655	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr14:93276655T>C	ENST00000163416.2	+	5	1305	c.1049T>C	c.(1048-1050)tTt>tCt	p.F350S	GOLGA5_ENST00000355976.2_Missense_Mutation_p.F350S	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	350				F -> L (in Ref. 1; AAD09753, 2; AAV85456, 4; EAW81502, 5; AAH23021, 6; CAA33787 and 8; CAB36967). {ECO:0000305}.	Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CTGCAGACTTTTCAGGAGAGA	0.423			T	RET	papillary thyroid																																			Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	0													70.0	76.0	74.0					14																	93276655		2203	4300	6503	SO:0001583	missense	9950			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1049T>C	14.37:g.93276655T>C	ENSP00000163416:p.Phe350Ser	Somatic		WXS	SOLID	Phase_I	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	T	16.98	3.270769	0.59540	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.44083	0.93;0.93	5.63	4.49	0.54785	.	0.000000	0.43747	D	0.000526	T	0.22975	0.0555	N	0.08118	0	0.09310	N	0.99999	B	0.14805	0.011	B	0.06405	0.002	T	0.13629	-1.0502	10	0.31617	T	0.26	-8.1937	11.5339	0.50626	0.0:0.0699:0.0:0.9301	.	350	Q8TBA6	GOGA5_HUMAN	S	350;350;259	ENSP00000163416:F350S;ENSP00000348252:F350S	ENSP00000163416:F350S	F	+	2	0	GOLGA5	92346408	1.000000	0.71417	0.782000	0.31804	0.934000	0.57294	7.560000	0.82277	1.082000	0.41137	0.482000	0.46254	TTT		0.423	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1			
GPR160	26996	hgsc.bcm.edu;ucsc.edu	37	3	169802564	169802564	+	Silent	SNP	G	G	A	rs148749842		TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:169802564G>A	ENST00000355897.5	+	4	1412	c.804G>A	c.(802-804)caG>caA	p.Q268Q		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTAAAGTTCAGATTCCAGCAT	0.308																																																	0													139.0	138.0	138.0					3																	169802564		2202	4299	6501	SO:0001819	synonymous_variant	26996			AB083583	CCDS3211.1	3q26.2-q27	2012-08-21			ENSG00000173890	ENSG00000173890		"""GPCR / Class A : Orphans"""	23693	protein-coding gene	gene with protein product						12044878	Standard	NM_014373		Approved	GPCR150, GPCR1	uc003fgi.3	Q9UJ42	OTTHUMG00000158776	ENST00000355897.5:c.804G>A	3.37:g.169802564G>A		Somatic		WXS	SOLID	Phase_I	D3DNQ2	Silent	SNP	ENST00000355897.5	37	CCDS3211.1																																																																																				0.308	GPR160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352167.1		NM_014373	
HCFC1	3054	hgsc.bcm.edu	37	X	153236183	153236183	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrX:153236183G>T	ENST00000310441.7	-	1	1075	c.109C>A	c.(109-111)Cgc>Agc	p.R37S	TMEM187_ENST00000369982.4_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.R37S|HCFC1_ENST00000369984.4_Missense_Mutation_p.R37S|HCFC1-AS1_ENST00000438219.1_RNA	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	37					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R37C(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACGGCGCGGTGGCCGTGG	0.682																																																	1	Substitution - Missense(1)	ovary(1)											45.0	43.0	43.0					X																	153236183		1990	4124	6114	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.109C>A	X.37:g.153236183G>T	ENSP00000309555:p.Arg37Ser	Somatic		WXS	SOLID	Phase_I	Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008174	0.54361	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.74737	-0.87;-0.87;-0.87	3.72	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.82623	0.5077	M	0.71036	2.16	0.54753	D	0.999989	D	0.76494	0.999	D	0.80764	0.994	T	0.83003	-0.0176	10	0.54805	T	0.06	.	9.4327	0.38620	0.0:0.0:0.7876:0.2124	.	37	P51610	HCFC1_HUMAN	S	37	ENSP00000309555:R37S;ENSP00000359001:R37S;ENSP00000346174:R37S	ENSP00000309555:R37S	R	-	1	0	HCFC1	152889377	1.000000	0.71417	0.999000	0.59377	0.557000	0.35523	5.094000	0.64523	1.840000	0.53500	0.436000	0.28706	CGC		0.682	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4		NM_005334	
HLA-DRB1	3123	hgsc.bcm.edu	37	6	32552091	32552091	+	Missense_Mutation	SNP	G	G	C	rs569286159		TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr6:32552091G>C	ENST00000360004.5	-	2	270	c.165C>G	c.(163-165)ttC>ttG	p.F55L		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	55	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						ATCTGTCCAGGAACCGCACCC	0.627										Multiple Myeloma(14;0.17)																																							0													30.0	29.0	29.0					6																	32552091		2182	4245	6427	SO:0001583	missense	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.165C>G	6.37:g.32552091G>C	ENSP00000353099:p.Phe55Leu	Somatic		WXS	SOLID	Phase_I	P01914|Q9MYF5	Missense_Mutation	SNP	ENST00000360004.5	37	CCDS47409.1	178	0.0815018315018315	33	0.06707317073170732	41	0.1132596685082873	18	0.03146853146853147	86	0.11345646437994723	.	7.847	0.723069	0.15439	.	.	ENSG00000196126	ENST00000360004	T	0.00353	7.94	3.52	-6.57	0.01842	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (2);MHC classes I/II-like antigen recognition protein (1);	1.314130	0.04757	N	0.425694	T	0.00039	0.0001	N	0.04787	-0.16	0.80722	P	0.0	B	0.10296	0.003	B	0.14023	0.01	T	0.04870	-1.0921	9	0.19590	T	0.45	.	6.7875	0.23682	0.706:0.1223:0.1717:0.0	rs17884840	55	P01911	2B1F_HUMAN	L	55	ENSP00000353099:F55L	ENSP00000353099:F55L	F	-	3	2	HLA-DRB1	32660069	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.894000	0.00707	-1.204000	0.02648	-2.818000	0.00109	TTC		0.627	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3		NM_002124	
INVS	27130	hgsc.bcm.edu;ucsc.edu	37	9	103060232	103060232	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr9:103060232G>T	ENST00000262457.2	+	16	3216	c.3031G>T	c.(3031-3033)Ggg>Tgg	p.G1011W	INVS_ENST00000541287.1_Missense_Mutation_p.G915W|INVS_ENST00000262456.2_Missense_Mutation_p.G841W	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	1011					embryonic heart tube left/right pattern formation (GO:0060971)|kidney development (GO:0001822)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|pancreas development (GO:0031016)|post-embryonic development (GO:0009791)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TTCTCACGAAGGGAAAATACA	0.448																																																	0													147.0	137.0	141.0					9																	103060232		2203	4300	6503	SO:0001583	missense	27130			AF039217	CCDS6746.1, CCDS6747.1	9q31	2013-01-10	2003-08-11		ENSG00000119509	ENSG00000119509		"""Ankyrin repeat domain containing"""	17870	protein-coding gene	gene with protein product	"""nephrocystin 2"""	243305	"""nephronophthisis 2 (infantile)"""	NPHP2		12872123	Standard	NM_014425		Approved		uc004bap.2	Q9Y283	OTTHUMG00000020364	ENST00000262457.2:c.3031G>T	9.37:g.103060232G>T	ENSP00000262457:p.Gly1011Trp	Somatic		WXS	SOLID	Phase_I	A2A2Y2|Q2NKL0|Q5W0T6|Q8IVX8|Q9BRB9|Q9Y488|Q9Y498	Missense_Mutation	SNP	ENST00000262457.2	37	CCDS6746.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.727170	0.69074	.	.	ENSG00000119509	ENST00000262457;ENST00000541287;ENST00000262456	T;T;T	0.63580	0.23;0.45;-0.05	4.96	4.96	0.65561	.	0.170938	0.52532	D	0.000070	T	0.77370	0.4120	M	0.66939	2.045	0.45733	D	0.998634	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.79063	-0.1957	10	0.72032	D	0.01	.	15.8695	0.79101	0.0:0.0:1.0:0.0	.	915;1011;841	F5GZH2;Q9Y283;Q9Y283-2	.;INVS_HUMAN;.	W	1011;915;841	ENSP00000262457:G1011W;ENSP00000444454:G915W;ENSP00000262456:G841W	ENSP00000262456:G841W	G	+	1	0	INVS	102100053	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	2.830000	0.48136	2.741000	0.93983	0.555000	0.69702	GGG		0.448	INVS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053407.1		NM_014425	
KCNJ12	3768	hgsc.bcm.edu	37	17	21318760	21318760	+	Missense_Mutation	SNP	G	G	T	rs74880280	byFrequency	TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr17:21318760G>T	ENST00000583088.1	+	3	1001	c.106G>T	c.(106-108)Gtg>Ttg	p.V36L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.V36L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	36					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CAACGGCAAGGTGCACACGCG	0.642										Prostate(3;0.18)																																							0													105.0	83.0	90.0					17																	21318760		2203	4300	6503	SO:0001583	missense	3768			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.106G>T	17.37:g.21318760G>T	ENSP00000463778:p.Val36Leu	Somatic		WXS	SOLID	Phase_I	O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	CCDS11219.1	300	0.13736263736263737	124	0.25203252032520324	51	0.1408839779005525	0	0.0	125	0.16490765171503957	G	13.78	2.339733	0.41398	.	.	ENSG00000184185	ENST00000331718	T	0.47177	0.85	5.33	4.28	0.50868	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	1.347560	0.05111	N	0.488898	T	0.00012	0.0000	N	0.08118	0	0.35222	D	0.776081	B	0.02656	0.0	B	0.06405	0.002	T	0.50857	-0.8778	10	0.19590	T	0.45	.	3.4799	0.07598	0.3718:0.0:0.6282:0.0	.	36	Q14500	IRK12_HUMAN	L	36	ENSP00000328150:V36L	ENSP00000328150:V36L	V	+	1	0	KCNJ12	21259353	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.295000	0.65692	2.506000	0.84524	0.591000	0.81541	GTG		0.642	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2		NM_021012	
KDM5D	8284	hgsc.bcm.edu	37	Y	21868427	21868427	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrY:21868427C>A	ENST00000317961.4	-	26	4440	c.4169G>T	c.(4168-4170)gGg>gTg	p.G1390V	KDM5D_ENST00000382806.2_Missense_Mutation_p.G1333V|KDM5D_ENST00000541639.1_Missense_Mutation_p.G1421V	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1390					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	AAGCAGGTCCCCTTCCATCAT	0.602																																																	0													35.0	33.0	33.0					Y																	21868427		581	1900	2481	SO:0001583	missense	8284			U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.4169G>T	Y.37:g.21868427C>A	ENSP00000322408:p.Gly1390Val	Somatic		WXS	SOLID	Phase_I	A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Missense_Mutation	SNP	ENST00000317961.4	37	CCDS14794.1																																																																																				0.602	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1		NM_004653	
LIPC	3990	hgsc.bcm.edu;ucsc.edu	37	15	58838059	58838059	+	Silent	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr15:58838059C>T	ENST00000356113.6	+	7	1308	c.693C>T	c.(691-693)agC>agT	p.S231S	LIPC_ENST00000433326.2_Silent_p.S170S|LIPC_ENST00000299022.5_Silent_p.S231S|LIPC_ENST00000414170.3_Silent_p.S231S			P11150	LIPC_HUMAN	lipase, hepatic	231					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TGGGCCTGAGCGTGGGCATCA	0.532																																																	0													109.0	104.0	106.0					15																	58838059		2192	4292	6484	SO:0001819	synonymous_variant	3990				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.693C>T	15.37:g.58838059C>T		Somatic		WXS	SOLID	Phase_I	A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	ENST00000356113.6	37	CCDS10166.1																																																																																				0.532	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			
MAGEB6	158809	hgsc.bcm.edu;ucsc.edu	37	X	26212893	26212893	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrX:26212893C>A	ENST00000379034.1	+	2	1079	c.930C>A	c.(928-930)ttC>ttA	p.F310L		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	310	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.F310L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCTGGGAGTTCCTGGGTCTGT	0.498																																																	1	Substitution - Missense(1)	lung(1)											193.0	187.0	189.0					X																	26212893		2202	4300	6502	SO:0001583	missense	158809			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.930C>A	X.37:g.26212893C>A	ENSP00000368320:p.Phe310Leu	Somatic		WXS	SOLID	Phase_I	Q6GS19|Q9H219	Missense_Mutation	SNP	ENST00000379034.1	37	CCDS14217.1	.	.	.	.	.	.	.	.	.	.	C	12.77	2.038555	0.35989	.	.	ENSG00000176746	ENST00000379034	T	0.04603	3.59	3.29	0.486	0.16836	.	0.462526	0.21311	U	0.076635	T	0.17408	0.0418	M	0.84511	2.7	0.09310	N	1	D	0.71674	0.998	D	0.79108	0.992	T	0.03384	-1.1042	10	0.51188	T	0.08	.	5.5364	0.17013	0.0:0.5925:0.0:0.4075	.	310	Q8N7X4	MAGB6_HUMAN	L	310	ENSP00000368320:F310L	ENSP00000368320:F310L	F	+	3	2	MAGEB6	26122814	0.000000	0.05858	0.014000	0.15608	0.019000	0.09904	-0.085000	0.11250	-0.024000	0.13941	-0.197000	0.12766	TTC		0.498	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056123.1		NM_173523	
MAGED1	9500	hgsc.bcm.edu;ucsc.edu	37	X	51637859	51637859	+	Intron	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrX:51637859A>G	ENST00000375722.1	+	3	297				MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000375695.2_Missense_Mutation_p.Y61C			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CTGAGCTGCTACTGCACGCCT	0.637										Multiple Myeloma(10;0.10)																																							0													82.0	68.0	73.0					X																	51637859		2203	4300	6503	SO:0001627	intron_variant	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.46-290A>G	X.37:g.51637859A>G		Somatic		WXS	SOLID	Phase_I	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	A	6.309	0.425122	0.11987	.	.	ENSG00000179222	ENST00000375695	T	0.04015	3.73	3.21	-6.41	0.01938	.	.	.	.	.	T	0.03477	0.0100	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41179	-0.9523	8	0.56958	D	0.05	.	7.5151	0.27596	0.2208:0.0:0.6188:0.1603	.	61	Q9Y5V3-2	.	C	61	ENSP00000364847:Y61C	ENSP00000364847:Y61C	Y	+	2	0	MAGED1	51654599	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.164000	0.09983	-1.744000	0.01338	-1.629000	0.00783	TAC		0.637	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1		NM_001005332	
ME3	10873	hgsc.bcm.edu;ucsc.edu	37	11	86198484	86198484	+	Splice_Site	SNP	T	T	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:86198484T>G	ENST00000393324.3	-	6	959		c.e6-2		ME3_ENST00000525957.1_Splice_Site|ME3_ENST00000359636.2_Splice_Site|ME3_ENST00000323418.6_Splice_Site|ME3_ENST00000543262.1_Splice_Site|RP11-317J19.1_ENST00000524610.1_RNA	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial						aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				GAGCAGCTCCTGGAACAGACA	0.507																																																	0													97.0	81.0	86.0					11																	86198484		2202	4299	6501	SO:0001630	splice_region_variant	10873			X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.706-2A>C	11.37:g.86198484T>G		Somatic		WXS	SOLID	Phase_I	B7Z6V0|Q8TBJ0	Splice_Site	SNP	ENST00000393324.3	37	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353959	0.82243	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826;ENST00000545395;ENST00000323418	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3172	0.66460	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ME3	85876132	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.635000	0.74295	2.016000	0.59253	0.482000	0.46254	.		0.507	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			Intron
MED12	9968	hgsc.bcm.edu	37	X	70352801	70352801	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrX:70352801C>T	ENST00000374080.3	+	32	4554	c.4522C>T	c.(4522-4524)Cac>Tac	p.H1508Y	MED12_ENST00000374102.1_Missense_Mutation_p.H1508Y|MED12_ENST00000333646.6_Missense_Mutation_p.H1508Y			Q93074	MED12_HUMAN	mediator complex subunit 12	1508					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGCCAGGTGCACCAGGTACA	0.532			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																	Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													36.0	34.0	34.0					X																	70352801		2004	4154	6158	SO:0001583	missense	9968			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4522C>T	X.37:g.70352801C>T	ENSP00000363193:p.His1508Tyr	Somatic		WXS	SOLID	Phase_I	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.427702	0.43122	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.62941	0.46;-0.01;0.46;-0.01;1.56	4.61	2.78	0.32641	.	0.176785	0.51477	D	0.000082	T	0.41880	0.1178	N	0.08118	0	0.33459	D	0.584714	B;B;B;B	0.14438	0.002;0.01;0.007;0.004	B;B;B;B	0.18871	0.023;0.013;0.006;0.017	T	0.48055	-0.9068	10	0.56958	D	0.05	-9.18	12.7975	0.57567	0.2978:0.7022:0.0:0.0	.	1508;1355;1508;1508	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Y	1508;1508;1508;1508;1476;253	ENSP00000333125:H1508Y;ENSP00000363215:H1508Y;ENSP00000363193:H1508Y;ENSP00000414203:H1476Y;ENSP00000408388:H253Y	ENSP00000333125:H1508Y	H	+	1	0	MED12	70269526	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.828000	0.48120	0.465000	0.27167	0.476000	0.43555	CAC		0.532	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1		NM_005120	
MKLN1	4289	hgsc.bcm.edu;ucsc.edu	37	7	131147981	131147982	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	AT	AT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr7:131147981_131147982delAT	ENST00000352689.6	+	13	1571_1572	c.1531_1532delAT	c.(1531-1533)atgfs	p.M511fs	MKLN1_ENST00000421797.2_Frame_Shift_Del_p.M419fs	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	511					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TGTAGTTCCAATGACAGGATTT	0.307																																																	0																																										SO:0001589	frameshift_variant	4289			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1531_1532delAT	7.37:g.131147981_131147982delAT	ENSP00000323527:p.Met511fs	Somatic		WXS	SOLID	Phase_I	A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Frame_Shift_Del	DEL	ENST00000352689.6	37	CCDS34754.1																																																																																				0.307	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4		NM_013255	
MTHFD1L	25902	hgsc.bcm.edu;ucsc.edu	37	6	151336687	151336687	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr6:151336687A>T	ENST00000367321.3	+	24	2718	c.2444A>T	c.(2443-2445)gAg>gTg	p.E815V		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	815	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TTGGTGTGTGAGCTTGCAAAG	0.502																																																	0													176.0	156.0	163.0					6																	151336687		2203	4300	6503	SO:0001583	missense	25902			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2444A>T	6.37:g.151336687A>T	ENSP00000356290:p.Glu815Val	Somatic		WXS	SOLID	Phase_I	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	ENST00000367321.3	37	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067308	0.76301	.	.	ENSG00000120254	ENST00000367321;ENST00000420192	T;T	0.25250	1.81;1.81	5.98	5.98	0.97165	.	0.275476	0.42420	D	0.000710	T	0.37972	0.1023	M	0.89414	3.03	0.80722	D	1	P;B;P	0.49447	0.924;0.172;0.849	P;B;P	0.48738	0.588;0.281;0.502	T	0.50285	-0.8846	10	0.72032	D	0.01	.	16.4566	0.84019	1.0:0.0:0.0:0.0	.	816;570;815	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	V	815;46	ENSP00000356290:E815V;ENSP00000395158:E46V	ENSP00000356290:E815V	E	+	2	0	MTHFD1L	151378380	0.780000	0.28664	1.000000	0.80357	0.988000	0.76386	2.742000	0.47434	2.293000	0.77203	0.477000	0.44152	GAG		0.502	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1		NM_015440	
NEDD4	4734	hgsc.bcm.edu	37	15	56126438	56126438	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr15:56126438T>G	ENST00000508342.1	-	21	3865	c.3566A>C	c.(3565-3567)gAa>gCa	p.E1189A	NEDD4_ENST00000506154.1_Missense_Mutation_p.E1173A|NEDD4_ENST00000435532.3_Missense_Mutation_p.E770A|NEDD4_ENST00000338963.2_Missense_Mutation_p.E1117A	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1189	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TAGTTCATTTTCATCAAAAAT	0.313																																																	0													61.0	62.0	62.0					15																	56126438		2193	4291	6484	SO:0001583	missense	4734			D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3566A>C	15.37:g.56126438T>G	ENSP00000424827:p.Glu1189Ala	Somatic		WXS	SOLID	Phase_I	A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.3|22.3	4.266011|4.266011	0.80358|0.80358	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154|ENST00000508871	T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98|.	5.53|5.53	5.53|5.53	0.82687|0.82687	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58032|0.58032	0.2094|0.2094	L|L	0.38692|0.38692	1.165|1.165	0.80722|0.80722	D|D	1|1	D;D;P;P|.	0.89917|.	1.0;0.963;0.686;0.495|.	D;P;D;P|.	0.91635|.	0.999;0.884;0.932;0.809|.	T|T	0.54931|0.54931	-0.8219|-0.8219	10|5	0.56958|.	D|.	0.05|.	.|.	14.8727|14.8727	0.70471|0.70471	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1173;770;1189;1117|.	P46934-2;P46934-4;P46934;P46934-3|.	.;.;NEDD4_HUMAN;.|.	A|Q	1189;770;1117;1173|780	ENSP00000424827:E1189A;ENSP00000410613:E770A;ENSP00000345530:E1117A;ENSP00000422705:E1173A|.	ENSP00000345530:E1117A|.	E|K	-|-	2|1	0|0	NEDD4|NEDD4	53913730|53913730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.175000|6.175000	0.71949|0.71949	2.107000|2.107000	0.64212|0.64212	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.313	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1		NM_198400	
NLRP5	126206	hgsc.bcm.edu	37	19	56565046	56565046	+	Silent	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr19:56565046G>A	ENST00000390649.3	+	13	3171	c.3171G>A	c.(3169-3171)ctG>ctA	p.L1057L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1057					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTGAGAGTCTGTCCTGTGTGA	0.592																																																	0													80.0	80.0	80.0					19																	56565046		2081	4207	6288	SO:0001819	synonymous_variant	126206			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3171G>A	19.37:g.56565046G>A		Somatic		WXS	SOLID	Phase_I	A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	CCDS12938.1																																																																																				0.592	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1		NM_153447	
NNT	23530	hgsc.bcm.edu	37	5	43675692	43675692	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr5:43675692T>A	ENST00000264663.5	+	18	2935	c.2714T>A	c.(2713-2715)aTt>aAt	p.I905N	NNT_ENST00000344920.4_Missense_Mutation_p.I905N|NNT_ENST00000512996.2_Missense_Mutation_p.I774N	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	905					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					CCCATGGAAATTTCTGGCACA	0.408																																																	0													93.0	87.0	89.0					5																	43675692		2203	4300	6503	SO:0001583	missense	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2714T>A	5.37:g.43675692T>A	ENSP00000264663:p.Ile905Asn	Somatic		WXS	SOLID	Phase_I	Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.728066	0.89390	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.91351	-2.83;-2.83;-2.83	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.94765	0.8310	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.94920	0.8072	10	0.59425	D	0.04	-14.5513	16.3426	0.83092	0.0:0.0:0.0:1.0	.	905	Q13423	NNTM_HUMAN	N	420;905;905;774	ENSP00000264663:I905N;ENSP00000343873:I905N;ENSP00000426343:I774N	ENSP00000264663:I905N	I	+	2	0	NNT	43711449	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.612000	0.82975	2.317000	0.78254	0.460000	0.39030	ATT		0.408	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1		NM_182977	
NUDCD1	84955	hgsc.bcm.edu	37	8	110255494	110255494	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr8:110255494A>G	ENST00000239690.4	-	10	1870	c.1496T>C	c.(1495-1497)tTt>tCt	p.F499S	NUDCD1_ENST00000427660.2_Missense_Mutation_p.F470S	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			AGCACAGGCAAAAAATTTTTT	0.398																																																	0													118.0	129.0	125.0					8																	110255494		2203	4300	6503	SO:0001583	missense	84955			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.1496T>C	8.37:g.110255494A>G	ENSP00000239690:p.Phe499Ser	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000239690.4	37	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	A	10.57	1.385968	0.25031	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.15834	2.4;2.39	5.11	5.11	0.69529	.	0.345473	0.33772	N	0.004566	T	0.10380	0.0254	N	0.17800	0.525	0.36766	D	0.883559	B;B;B	0.24882	0.013;0.113;0.017	B;B;B	0.21151	0.013;0.033;0.019	T	0.08722	-1.0708	10	0.06757	T	0.87	-7.0774	14.3729	0.66854	1.0:0.0:0.0:0.0	.	412;499;470	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	S	499;470	ENSP00000239690:F499S;ENSP00000410707:F470S	ENSP00000239690:F499S	F	-	2	0	NUDCD1	110324670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.441000	0.59981	2.049000	0.60858	0.455000	0.32223	TTT		0.398	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1		NM_032869	
OR5P2	120065	hgsc.bcm.edu	37	11	7818386	7818387	+	Frame_Shift_Ins	INS	-	-	T	rs201603694		TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:7818386_7818387insT	ENST00000329434.2	-	1	133_134	c.103_104insA	c.(103-105)ctafs	p.L35fs	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATTACCAGATAGGATGATCATG	0.441																																																	0																																										SO:0001589	frameshift_variant	120065			AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.103_104insA	11.37:g.7818386_7818387insT	ENSP00000331823:p.Leu35fs	Somatic		WXS	SOLID	Phase_I	Q3MIS8	Frame_Shift_Ins	INS	ENST00000329434.2	37	CCDS7782.1																																																																																				0.441	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385696.1		NM_153444	
SLC51A	200931	hgsc.bcm.edu;ucsc.edu	37	3	195955792	195955792	+	Splice_Site	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:195955792G>A	ENST00000296327.5	+	6	842		c.e6+1			NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit						bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	CCCAGCAGACGTAAGCCGGGA	0.542																																																	0													94.0	82.0	86.0					3																	195955792		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.633+1G>A	3.37:g.195955792G>A		Somatic		WXS	SOLID	Phase_I	Q6ZMC7	Splice_Site	SNP	ENST00000296327.5	37	CCDS3314.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774225	0.69992	.	.	ENSG00000163959	ENST00000296327	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6321	0.95713	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC069257.9	197440189	1.000000	0.71417	0.994000	0.49952	0.748000	0.42578	6.403000	0.73264	2.884000	0.98904	0.655000	0.94253	.		0.542	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1		NM_152672	Intron
PDE4DIP	9659	hgsc.bcm.edu	37	1	144856852	144856852	+	Silent	SNP	C	C	T	rs377520030		TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:144856852C>T	ENST00000369354.3	-	40	6822	c.6633G>A	c.(6631-6633)gcG>gcA	p.A2211A	PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Silent_p.A2296A|PDE4DIP_ENST00000369359.4_Silent_p.A2347A|PDE4DIP_ENST00000369356.4_Silent_p.A2211A|PDE4DIP_ENST00000313382.9_Silent_p.A2105A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2211					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.A2211A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAAGCTGCACGCTGATCTCA	0.502			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)											39.0	31.0	34.0					1																	144856852		2199	4286	6485	SO:0001819	synonymous_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6633G>A	1.37:g.144856852C>T		Somatic		WXS	SOLID	Phase_I	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	.	5.637	0.302253	0.10678	.	.	ENSG00000178104	ENST00000530130	.	.	.	4.52	-1.01	0.10169	.	.	.	.	.	T	0.12263	0.0298	.	.	.	0.32646	N	0.519982	.	.	.	.	.	.	T	0.19745	-1.0296	4	.	.	.	.	1.5392	0.02551	0.1278:0.2204:0.3685:0.2833	.	.	.	.	H	288	.	.	R	-	2	0	PDE4DIP	143568209	0.000000	0.05858	0.052000	0.19188	0.068000	0.16541	-1.120000	0.03273	0.239000	0.21243	-0.693000	0.03709	CGT		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2		NM_022359	
PDHA1	5160	hgsc.bcm.edu;ucsc.edu	37	X	19369447	19369447	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrX:19369447C>G	ENST00000422285.2	+	4	445	c.340C>G	c.(340-342)Ctc>Gtc	p.L114V	PDHA1_ENST00000379805.3_Missense_Mutation_p.L114V|PDHA1_ENST00000545074.1_Missense_Mutation_p.L121V|PDHA1_ENST00000540249.1_Missense_Mutation_p.L114V|PDHA1_ENST00000379806.5_Missense_Mutation_p.L152V			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	114					acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					CACAGACCATCTCATCACAGC	0.498																																																	0													111.0	101.0	104.0					X																	19369447		2203	4300	6503	SO:0001583	missense	5160				CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.340C>G	X.37:g.19369447C>G	ENSP00000394382:p.Leu114Val	Somatic		WXS	SOLID	Phase_I	A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Missense_Mutation	SNP	ENST00000422285.2	37	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	C	2.888	-0.230233	0.05983	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000423505;ENST00000422285;ENST00000355808;ENST00000379805	D;D;D;D;D;D;D	0.97161	-3.44;-3.44;-4.27;-3.44;-3.44;-3.44;-3.44	5.54	4.62	0.57501	Dehydrogenase, E1 component (1);	0.138874	0.50627	D	0.000117	D	0.83022	0.5164	N	0.00554	-1.385	0.53005	D	0.999962	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.003;0.002;0.001;0.004;0.001	T	0.80469	-0.1369	10	0.02654	T	1	-18.7723	5.406	0.16323	0.0:0.5225:0.2783:0.1992	.	114;121;114;152;114	B7Z3X5;B7Z3T7;B2R5P7;A5YVE9;P08559	.;.;.;.;ODPA_HUMAN	V	152;121;114;152;114;121;114	ENSP00000369134:L152V;ENSP00000438550:L121V;ENSP00000440761:L114V;ENSP00000406473:L152V;ENSP00000394382:L114V;ENSP00000348062:L121V;ENSP00000369133:L114V	ENSP00000348062:L121V	L	+	1	0	PDHA1	19279368	0.997000	0.39634	0.998000	0.56505	0.987000	0.75469	1.295000	0.33377	2.475000	0.83589	0.529000	0.55759	CTC		0.498	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1			
PGBD1	84547	hgsc.bcm.edu;ucsc.edu	37	6	28269595	28269595	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr6:28269595C>T	ENST00000405948.2	+	7	2384	c.1964C>T	c.(1963-1965)aCc>aTc	p.T655I	PGBD1_ENST00000259883.3_Missense_Mutation_p.T655I	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	655						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAGAACAGGACCGAAAAATGT	0.368																																																	0													93.0	90.0	91.0					6																	28269595		2203	4300	6503	SO:0001583	missense	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1964C>T	6.37:g.28269595C>T	ENSP00000385213:p.Thr655Ile	Somatic		WXS	SOLID	Phase_I	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482027	0.26598	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.17213	2.29;2.29	4.84	3.03	0.35002	.	0.573697	0.15221	N	0.273923	T	0.02807	0.0084	N	0.19112	0.55	0.23926	N	0.996445	B	0.10296	0.003	B	0.17979	0.02	T	0.46345	-0.9198	10	0.13853	T	0.58	-0.5782	7.6552	0.28371	0.0:0.8054:0.0:0.1946	.	655	Q96JS3	PGBD1_HUMAN	I	655	ENSP00000385213:T655I;ENSP00000259883:T655I	ENSP00000259883:T655I	T	+	2	0	PGBD1	28377574	0.520000	0.26250	0.368000	0.25939	0.925000	0.55904	-0.002000	0.12924	0.733000	0.32492	0.655000	0.94253	ACC		0.368	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			
PHF20	51230	hgsc.bcm.edu	37	20	34451134	34451134	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr20:34451134A>G	ENST00000374012.3	+	6	749	c.620A>G	c.(619-621)aAa>aGa	p.K207R	PHF20_ENST00000439301.1_Missense_Mutation_p.K207R|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	207	Lys-rich.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GAAAAGGGGAAAGTGTCAGAG	0.398																																																	0													126.0	125.0	125.0					20																	34451134		2203	4300	6503	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.620A>G	20.37:g.34451134A>G	ENSP00000363124:p.Lys207Arg	Somatic		WXS	SOLID	Phase_I	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163376	0.78226	.	.	ENSG00000025293	ENST00000374012;ENST00000439301;ENST00000339089;ENST00000374000;ENST00000449988	T;T;T;T	0.55413	1.27;0.52;0.56;0.57	5.5	4.38	0.52667	.	0.363973	0.31312	N	0.007876	T	0.39384	0.1076	L	0.27053	0.805	0.44627	D	0.9976	B;B;B	0.26120	0.142;0.085;0.025	B;B;B	0.26202	0.067;0.045;0.046	T	0.15983	-1.0418	10	0.34782	T	0.22	.	11.8745	0.52539	0.9307:0.0:0.0693:0.0	.	207;207;207	Q566Q2;Q9BVI0;Q66K49	.;PHF20_HUMAN;.	R	207;207;207;207;100	ENSP00000363124:K207R;ENSP00000410373:K207R;ENSP00000341900:K207R;ENSP00000363112:K207R	ENSP00000341900:K207R	K	+	2	0	PHF20	33914548	1.000000	0.71417	0.966000	0.40874	0.992000	0.81027	4.696000	0.61774	0.991000	0.38814	0.459000	0.35465	AAA		0.398	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2		NM_016436	
PIK3C2B	5287	hgsc.bcm.edu	37	1	204419062	204419062	+	Missense_Mutation	SNP	G	G	T	rs142362916	byFrequency	TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:204419062G>T	ENST00000367187.3	-	14	2706	c.2150C>A	c.(2149-2151)cCg>cAg	p.P717Q	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.P717Q	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	717	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00041, ECO:0000255|PROSITE- ProRule:PRU00880}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.P717L(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGAGCTCCCCGGTGGGGGGAT	0.622																																																	1	Substitution - Missense(1)	stomach(1)											25.0	28.0	27.0					1																	204419062		2203	4300	6503	SO:0001583	missense	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2150C>A	1.37:g.204419062G>T	ENSP00000356155:p.Pro717Gln	Somatic		WXS	SOLID	Phase_I	O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891634	0.72524	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.75589	-0.95;-0.95	4.88	4.88	0.63580	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.193501	0.44285	D	0.000474	T	0.79076	0.4385	L	0.44542	1.39	0.26649	N	0.972133	D;D	0.76494	0.976;0.999	P;D	0.72338	0.799;0.977	T	0.69228	-0.5200	10	0.19147	T	0.46	.	13.3924	0.60830	0.0:0.1582:0.8418:0.0	.	717;717	F5GWN5;O00750	.;P3C2B_HUMAN	Q	717	ENSP00000356155:P717Q;ENSP00000400561:P717Q	ENSP00000356155:P717Q	P	-	2	0	PIK3C2B	202685685	1.000000	0.71417	0.057000	0.19452	0.919000	0.55068	5.373000	0.66162	2.272000	0.75746	0.305000	0.20034	CCG		0.622	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1		NM_002646	
PKD1L1	168507	hgsc.bcm.edu;ucsc.edu	37	7	47925313	47925313	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr7:47925313G>A	ENST00000289672.2	-	18	3226	c.3176C>T	c.(3175-3177)cCc>cTc	p.P1059L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1059	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCTGTGGGTGGGCTGACTTCT	0.572																																																	0													78.0	86.0	84.0					7																	47925313		2203	4300	6503	SO:0001583	missense	168507			AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3176C>T	7.37:g.47925313G>A	ENSP00000289672:p.Pro1059Leu	Somatic		WXS	SOLID	Phase_I	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.630896	0.28978	.	.	ENSG00000158683	ENST00000289672	T	0.19105	2.17	4.16	-2.5	0.06384	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	15.609700	0.02790	U	0.121989	T	0.18173	0.0436	L	0.47716	1.5	0.09310	N	1	P	0.45176	0.852	B	0.42462	0.388	T	0.23404	-1.0189	10	0.66056	D	0.02	-10.0006	0.1547	0.00097	0.2945:0.1492:0.2517:0.3046	.	1059	Q8TDX9	PK1L1_HUMAN	L	1059	ENSP00000289672:P1059L	ENSP00000289672:P1059L	P	-	2	0	PKD1L1	47891838	0.005000	0.15991	0.000000	0.03702	0.020000	0.10135	1.242000	0.32755	-0.164000	0.10927	-0.163000	0.13421	CCC		0.572	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1		NM_138295	
PLCB2	5330	hgsc.bcm.edu;ucsc.edu	37	15	40591379	40591379	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr15:40591379G>T	ENST00000260402.3	-	8	882	c.633C>A	c.(631-633)ttC>ttA	p.F211L	PLCB2_ENST00000456256.2_Missense_Mutation_p.F211L|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Missense_Mutation_p.F211L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	211					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCTCATGAGGAAACTCTTGT	0.488																																																	0													126.0	132.0	130.0					15																	40591379		1966	4131	6097	SO:0001583	missense	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.633C>A	15.37:g.40591379G>T	ENSP00000260402:p.Phe211Leu	Somatic		WXS	SOLID	Phase_I	A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.523118	0.27211	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.47177	0.85;0.85	5.51	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	L	0.33137	0.985	0.80722	D	1	P;B;P	0.45957	0.869;0.266;0.542	B;P;B	0.51866	0.311;0.682;0.251	T	0.21109	-1.0255	10	0.21014	T	0.42	.	12.3199	0.54979	0.1394:0.0:0.8606:0.0	.	211;211;211	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	L	211	ENSP00000260402:F211L;ENSP00000411991:F211L	ENSP00000260402:F211L	F	-	3	2	PLCB2	38378671	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.278000	0.33179	1.320000	0.45209	0.655000	0.94253	TTC		0.488	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1			
PLCH2	9651	hgsc.bcm.edu	37	1	2431088	2431088	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:2431088C>A	ENST00000419816.2	+	20	2864	c.2590C>A	c.(2590-2592)Cac>Aac	p.H864N	PLCH2_ENST00000449969.1_Missense_Mutation_p.H837N|PLCH2_ENST00000378488.3_Missense_Mutation_p.H828N|PLCH2_ENST00000288766.5_Missense_Mutation_p.H152N|PLCH2_ENST00000378486.3_Missense_Mutation_p.H864N			O75038	PLCH2_HUMAN	phospholipase C, eta 2	864					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		AGGCTACAGACACGTGTACCT	0.592																																																	0													53.0	61.0	59.0					1																	2431088		2158	4265	6423	SO:0001583	missense	9651			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.2590C>A	1.37:g.2431088C>A	ENSP00000389803:p.His864Asn	Somatic		WXS	SOLID	Phase_I	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.74|18.74	3.689338|3.689338	0.68271|0.68271	.|.	.|.	ENSG00000149527|ENSG00000149527	ENST00000419816|ENST00000449969;ENST00000378486;ENST00000378488;ENST00000288766;ENST00000378483;ENST00000343889;ENST00000278878	.|T;T;T;T	.|0.14516	.|2.5;2.5;2.5;2.5	5.13|5.13	5.13|5.13	0.70059|0.70059	.|C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	.|0.055211	.|0.64402	.|D	.|0.000001	T|T	0.37785|0.37785	0.1016|0.1016	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.999;0.996;0.999	T|T	0.15150|0.15150	-1.0447|-1.0447	5|10	.|0.87932	.|D	.|0	.|.	17.5471|17.5471	0.87865|0.87865	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|711;616;837;864	.|B9DI81;B9DI82;O75038-2;O75038	.|.;.;.;PLCH2_HUMAN	E|N	158|837;864;828;152;150;711;616	.|ENSP00000397289:H837N;ENSP00000367747:H864N;ENSP00000367749:H828N;ENSP00000288766:H152N	.|ENSP00000278878:H616N	D|H	+|+	3|1	2|0	PLCH2|PLCH2	2420948|2420948	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.363000|0.363000	0.29612|0.29612	5.867000|5.867000	0.69597|0.69597	2.392000|2.392000	0.81423|0.81423	0.491000|0.491000	0.48974|0.48974	GAC|CAC		0.592	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1		NM_014638	
PRDM2	7799	hgsc.bcm.edu;ucsc.edu	37	1	14106783	14106783	+	Silent	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:14106783A>G	ENST00000235372.7	+	8	3349	c.2493A>G	c.(2491-2493)aaA>aaG	p.K831K	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.K630K|PRDM2_ENST00000343137.4_Silent_p.K630K|PRDM2_ENST00000311066.5_Silent_p.K831K|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	831					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCGGTGTCAAACAGAAGGCTG	0.448																																																	0													77.0	73.0	75.0					1																	14106783		2203	4300	6503	SO:0001819	synonymous_variant	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2493A>G	1.37:g.14106783A>G		Somatic		WXS	SOLID	Phase_I	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	ENST00000235372.7	37	CCDS150.1																																																																																				0.448	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2		NM_012231	
POGK	57645	hgsc.bcm.edu	37	1	166818327	166818327	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:166818327T>A	ENST00000367875.1	+	5	871	c.511T>A	c.(511-513)Tac>Aac	p.Y171N	POGK_ENST00000537173.1_Missense_Mutation_p.Y53N|POGK_ENST00000367876.4_Missense_Mutation_p.Y171N|POGK_ENST00000536514.1_Missense_Mutation_p.Y86N			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	171					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Y171N(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GTACCCCTTCTACATGGCCAT	0.587																																					GBM(76;192 1530 30153 48742)												1	Substitution - Missense(1)	large_intestine(1)											97.0	86.0	90.0					1																	166818327		2203	4300	6503	SO:0001583	missense	57645			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.511T>A	1.37:g.166818327T>A	ENSP00000356849:p.Tyr171Asn	Somatic		WXS	SOLID	Phase_I	Q5TIJ1|Q8TE07	Missense_Mutation	SNP	ENST00000367875.1	37	CCDS1254.1	.	.	.	.	.	.	.	.	.	.	T	13.35	2.210615	0.39102	.	.	ENSG00000143157	ENST00000537173;ENST00000536514;ENST00000449930;ENST00000367876;ENST00000367875	T;T;T;T;T	0.37058	1.28;1.22;4.38;4.59;4.59	5.39	4.23	0.50019	.	0.165905	0.28964	N	0.013573	T	0.12008	0.0292	N	0.24115	0.695	0.34210	D	0.674214	B;B;B	0.23650	0.018;0.089;0.089	B;B;B	0.26517	0.059;0.044;0.07	T	0.06110	-1.0845	9	0.87932	D	0	-7.7248	9.1341	0.36863	0.0:0.0:0.184:0.816	.	53;86;171	G3V1P0;B4DS22;Q9P215	.;.;POGK_HUMAN	N	53;86;171;171;171	ENSP00000442763:Y53N;ENSP00000441187:Y86N;ENSP00000404402:Y171N;ENSP00000356850:Y171N;ENSP00000356849:Y171N	ENSP00000356849:Y171N	Y	+	1	0	POGK	165084951	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.334000	0.52097	1.014000	0.39417	0.533000	0.62120	TAC		0.587	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082888.1		NM_017542	
PTPRD	5789	hgsc.bcm.edu;ucsc.edu	37	9	8507401	8507401	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr9:8507401G>A	ENST00000381196.4	-	19	2120	c.1577C>T	c.(1576-1578)cCt>cTt	p.P526L	PTPRD_ENST00000397611.3_Missense_Mutation_p.P523L|PTPRD_ENST00000537002.1_Missense_Mutation_p.P523L|PTPRD_ENST00000397606.3_Missense_Mutation_p.P516L|PTPRD_ENST00000355233.5_Missense_Mutation_p.P526L|PTPRD_ENST00000356435.5_Missense_Mutation_p.P526L|PTPRD_ENST00000360074.4_Missense_Mutation_p.P513L|PTPRD_ENST00000358503.5_Missense_Mutation_p.P513L|PTPRD_ENST00000486161.1_Missense_Mutation_p.P526L|PTPRD_ENST00000540109.1_Missense_Mutation_p.P526L|PTPRD_ENST00000397617.3_Missense_Mutation_p.P516L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	526	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCAGACTCAGGTTCTGCTTT	0.448										TSP Lung(15;0.13)																																							0													202.0	187.0	192.0					9																	8507401		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1577C>T	9.37:g.8507401G>A	ENSP00000370593:p.Pro526Leu	Somatic		WXS	SOLID	Phase_I	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246015	0.80024	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	6.06	6.06	0.98353	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.050933	0.85682	D	0.000000	T	0.57917	0.2086	L	0.43646	1.37	0.80722	D	1	B;B;B;B;B;B;B;P;B	0.38535	0.068;0.014;0.205;0.014;0.002;0.012;0.062;0.635;0.077	B;B;B;B;B;B;B;P;B	0.46389	0.145;0.102;0.215;0.063;0.01;0.037;0.115;0.515;0.375	T	0.46331	-0.9199	9	.	.	.	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	516;520;526;526;523;523;513;526;526	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	L	526;526;513;513;526;516;523;523;526;526;526;516	ENSP00000370593:P526L;ENSP00000348812:P526L;ENSP00000353187:P513L;ENSP00000351293:P513L;ENSP00000347373:P526L;ENSP00000380741:P516L;ENSP00000380735:P523L;ENSP00000440515:P523L;ENSP00000438164:P526L;ENSP00000417093:P526L;ENSP00000380731:P516L	.	P	-	2	0	PTPRD	8497401	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.434000	0.97515	2.880000	0.98712	0.650000	0.86243	CCT		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			
RNF128	79589	hgsc.bcm.edu	37	X	105970574	105970574	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrX:105970574T>C	ENST00000255499.2	+	1	681	c.431T>C	c.(430-432)gTc>gCc	p.V144A	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	144	PA.				negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TCTGGAGCCGTCATCTTTAAC	0.602																																																	0													53.0	50.0	51.0					X																	105970574		2203	4300	6503	SO:0001583	missense	79589			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.431T>C	X.37:g.105970574T>C	ENSP00000255499:p.Val144Ala	Somatic		WXS	SOLID	Phase_I	A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	T	13.61	2.289701	0.40494	.	.	ENSG00000133135	ENST00000255499	T	0.10192	2.9	4.29	3.09	0.35607	Protease-associated domain, PA (1);	0.222920	0.37530	N	0.002053	T	0.32852	0.0843	M	0.86502	2.82	0.38796	D	0.955088	D	0.76494	0.999	D	0.81914	0.995	T	0.09465	-1.0673	10	0.87932	D	0	.	7.4821	0.27411	0.195:0.0:0.0:0.805	.	144	Q8TEB7	RN128_HUMAN	A	144	ENSP00000255499:V144A	ENSP00000255499:V144A	V	+	2	0	RNF128	105857230	1.000000	0.71417	0.999000	0.59377	0.042000	0.13812	5.793000	0.69060	0.467000	0.27218	-0.405000	0.06341	GTC		0.602	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1		NM_024539	
RNF19B	127544	hgsc.bcm.edu;ucsc.edu	37	1	33413940	33413940	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:33413940C>T	ENST00000373456.7	-	3	868	c.869G>A	c.(868-870)tGc>tAc	p.C290Y	RNF19B_ENST00000356990.5_Missense_Mutation_p.C289Y|RNF19B_ENST00000235150.4_Missense_Mutation_p.C289Y	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	290					interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567)	cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTATGCACTGCATCGTGGGCA	0.418																																																	0													183.0	141.0	155.0					1																	33413940		2203	4300	6503	SO:0001583	missense	127544			AK074486	CCDS372.2, CCDS44107.1, CCDS72754.1	1p35.1	2010-05-11	2007-08-20	2007-08-20	ENSG00000116514	ENSG00000116514		"""RING-type (C3HC4) zinc fingers"""	26886	protein-coding gene	gene with protein product		610872	"""IBR domain containing 3"""	IBRDC3		12477932	Standard	XM_006710356		Approved	FLJ90005	uc010oho.2	Q6ZMZ0	OTTHUMG00000004013	ENST00000373456.7:c.869G>A	1.37:g.33413940C>T	ENSP00000362555:p.Cys290Tyr	Somatic		WXS	SOLID	Phase_I	B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3	Missense_Mutation	SNP	ENST00000373456.7	37	CCDS372.2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512279	0.85389	.	.	ENSG00000116514	ENST00000373456;ENST00000356990;ENST00000235150;ENST00000405457	D;D;D	0.99458	-5.93;-5.93;-5.93	5.71	5.71	0.89125	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97421	1.0009	10	0.87932	D	0	.	20.2344	0.98354	0.0:1.0:0.0:0.0	.	289;290;289	G3XA82;Q6ZMZ0;E9PAW6	.;RN19B_HUMAN;.	Y	290;289;289;188	ENSP00000362555:C290Y;ENSP00000349482:C289Y;ENSP00000235150:C289Y	ENSP00000235150:C289Y	C	-	2	0	RNF19B	33186527	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.813000	0.86123	2.854000	0.98071	0.655000	0.94253	TGC		0.418	RNF19B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011465.3		NM_153341	
RNF219	79596	hgsc.bcm.edu;ucsc.edu	37	13	79190197	79190197	+	Silent	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr13:79190197A>G	ENST00000282003.6	-	6	1757	c.1699T>C	c.(1699-1701)Tta>Cta	p.L567L	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	567	Ser-rich.						zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GACTTTGATAACCCATCCAAA	0.383																																																	0													121.0	124.0	123.0					13																	79190197		2203	4300	6503	SO:0001819	synonymous_variant	79596			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.1699T>C	13.37:g.79190197A>G		Somatic		WXS	SOLID	Phase_I	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Silent	SNP	ENST00000282003.6	37	CCDS31997.1																																																																																				0.383	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045363.1		NM_024546	
RUNX1T1	862	hgsc.bcm.edu	37	8	93004069	93004069	+	Silent	SNP	T	T	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr8:93004069T>G	ENST00000523629.1	-	7	1243	c.789A>C	c.(787-789)ccA>ccC	p.P263P	RUNX1T1_ENST00000360348.2_Silent_p.P226P|RUNX1T1_ENST00000265814.3_Silent_p.P263P|RUNX1T1_ENST00000436581.2_Silent_p.P274P|RUNX1T1_ENST00000422361.2_Silent_p.P226P|RUNX1T1_ENST00000396218.1_Silent_p.P236P|RUNX1T1_ENST00000518844.1_Silent_p.P236P|RUNX1T1_ENST00000520724.1_Silent_p.P226P	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	263					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTCGCTTGCTTGGATGTTCTG	0.488																																																	0													163.0	138.0	146.0					8																	93004069		2203	4300	6503	SO:0001819	synonymous_variant	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.789A>C	8.37:g.93004069T>G		Somatic		WXS	SOLID	Phase_I	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	CCDS6256.1																																																																																				0.488	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3		NM_004349, NM_175635	
RYR2	6262	hgsc.bcm.edu;ucsc.edu	37	1	237664037	237664037	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:237664037C>G	ENST00000366574.2	+	21	2547	c.2230C>G	c.(2230-2232)Cca>Gca	p.P744A	RYR2_ENST00000360064.6_Missense_Mutation_p.P742A|RYR2_ENST00000542537.1_Missense_Mutation_p.P728A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	744	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTAAGCTCACCAAACCAACA	0.413																																																	0													307.0	290.0	295.0					1																	237664037		1906	4135	6041	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2230C>G	1.37:g.237664037C>G	ENSP00000355533:p.Pro744Ala	Somatic		WXS	SOLID	Phase_I	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.498590	0.44455	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69561	-0.41;-0.41;-0.41	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000011	T	0.65354	0.2683	N	0.17082	0.46	0.80722	D	1	D	0.64830	0.994	P	0.62298	0.9	T	0.57883	-0.7734	10	0.02654	T	1	.	19.8215	0.96599	0.0:1.0:0.0:0.0	.	744	Q92736	RYR2_HUMAN	A	744;742;728	ENSP00000355533:P744A;ENSP00000353174:P742A;ENSP00000443798:P728A	ENSP00000353174:P742A	P	+	1	0	RYR2	235730660	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.705000	0.61838	2.679000	0.91253	0.650000	0.86243	CCA		0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035	
SART3	9733	hgsc.bcm.edu;ucsc.edu	37	12	108931344	108931344	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr12:108931344C>T	ENST00000228284.3	-	9	1463	c.1229G>A	c.(1228-1230)gGc>gAc	p.G410D	SART3_ENST00000431469.2_Intron	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	410					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTGGATGAAGCCGGCATTCAA	0.398									Porokeratosis																																								0													87.0	80.0	82.0					12																	108931344		2203	4300	6503	SO:0001583	missense	9733	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1229G>A	12.37:g.108931344C>T	ENSP00000228284:p.Gly410Asp	Somatic		WXS	SOLID	Phase_I	A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	C	34	5.309269	0.95629	.	.	ENSG00000075856	ENST00000228284;ENST00000412617;ENST00000546815	T;T	0.61040	2.18;0.14	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.76405	-0.2971	10	0.35671	T	0.21	-30.2674	20.3343	0.98733	0.0:1.0:0.0:0.0	.	358;428;410	E7EMI4;F8VV04;Q15020	.;.;SART3_HUMAN	D	410;358;428	ENSP00000228284:G410D;ENSP00000449386:G428D	ENSP00000228284:G410D	G	-	2	0	SART3	107455474	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.487000	0.81328	2.822000	0.97130	0.650000	0.86243	GGC		0.398	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			
SCARB2	950	hgsc.bcm.edu;ucsc.edu	37	4	77095296	77095296	+	Splice_Site	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr4:77095296C>T	ENST00000264896.2	-	7	1344		c.e7+1		SCARB2_ENST00000452464.2_Splice_Site	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2						cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TGAGTTCTTACCATTCTTGCA	0.483																																																	0													203.0	231.0	222.0					4																	77095296		2203	4300	6503	SO:0001630	splice_region_variant	950			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.994+1G>A	4.37:g.77095296C>T		Somatic		WXS	SOLID	Phase_I	B4DKD8|E7EM68|Q53Y63	Splice_Site	SNP	ENST00000264896.2	37	CCDS3577.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887165	0.91814	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.172	0.89749	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCARB2	77314320	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.330000	0.79181	2.591000	0.87537	0.655000	0.94253	.		0.483	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252403.1		NM_005506	Intron
SELPLG	6404	hgsc.bcm.edu;ucsc.edu	37	12	109017991	109017991	+	Silent	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr12:109017991G>A	ENST00000550948.1	-	2	317	c.93C>T	c.(91-93)gcC>gcT	p.A31A	SELPLG_ENST00000388962.3_Silent_p.A31A|SELPLG_ENST00000228463.6_Silent_p.A47A			Q14242	SELPL_HUMAN	selectin P ligand	31				Missing (in Ref. 3; BAC05283). {ECO:0000305}.	blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GGGGACCCAAGGCTTTCTCGG	0.572																																																	0													65.0	66.0	66.0					12																	109017991		2203	4300	6503	SO:0001819	synonymous_variant	6404				CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.93C>T	12.37:g.109017991G>A		Somatic		WXS	SOLID	Phase_I	A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	Silent	SNP	ENST00000550948.1	37	CCDS31895.2																																																																																				0.572	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1			
SETD2	29072	hgsc.bcm.edu	37	3	47098445	47098445	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:47098445G>A	ENST00000409792.3	-	15	6871	c.6829C>T	c.(6829-6831)Caa>Taa	p.Q2277*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2277	Gln-rich.|Low charge region.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACAGACTGTTGGTTTGAATCC	0.498			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													113.0	108.0	110.0					3																	47098445		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6829C>T	3.37:g.47098445G>A	ENSP00000386759:p.Gln2277*	Somatic		WXS	SOLID	Phase_I	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	45	11.884077	0.99613	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	.	.	.	5.1	5.1	0.69264	.	0.000000	0.53938	D	0.000041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0757	0.93161	0.0:0.0:1.0:0.0	.	.	.	.	X	2277	.	ENSP00000386759:Q2277X	Q	-	1	0	SETD2	47073449	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	9.097000	0.94193	2.814000	0.96858	0.655000	0.94253	CAA		0.498	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SI	6476	hgsc.bcm.edu	37	3	164732948	164732948	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:164732948A>G	ENST00000264382.3	-	33	4024	c.3962T>C	c.(3961-3963)gTc>gCc	p.V1321A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1321	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TGGCCATTTGACAAAGACATC	0.308										HNSCC(35;0.089)																																							0													95.0	90.0	92.0					3																	164732948		2203	4300	6503	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3962T>C	3.37:g.164732948A>G	ENSP00000264382:p.Val1321Ala	Somatic		WXS	SOLID	Phase_I	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.261453	0.59431	.	.	ENSG00000090402	ENST00000264382	D	0.91996	-2.95	5.35	5.35	0.76521	Glycoside hydrolase, superfamily (1);	0.179622	0.48286	D	0.000198	D	0.91768	0.7396	M	0.71920	2.185	0.38840	D	0.95604	B	0.17465	0.022	B	0.24974	0.057	D	0.90522	0.4489	10	0.87932	D	0	.	15.4836	0.75548	1.0:0.0:0.0:0.0	.	1321	P14410	SUIS_HUMAN	A	1321	ENSP00000264382:V1321A	ENSP00000264382:V1321A	V	-	2	0	SI	166215642	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	8.263000	0.89864	2.240000	0.73641	0.482000	0.46254	GTC		0.308	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1		NM_001041	
SIPA1L1	26037	hgsc.bcm.edu;ucsc.edu	37	14	72169179	72169179	+	Silent	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr14:72169179G>A	ENST00000555818.1	+	12	3951	c.3603G>A	c.(3601-3603)acG>acA	p.T1201T	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_Silent_p.T1201T|SIPA1L1_ENST00000381232.3_Silent_p.T1201T|SIPA1L1_ENST00000537413.1_Silent_p.T676T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1201					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAAATCCACGCCTAGCTGGC	0.478																																																	0													118.0	101.0	106.0					14																	72169179		2203	4300	6503	SO:0001819	synonymous_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3603G>A	14.37:g.72169179G>A		Somatic		WXS	SOLID	Phase_I	J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	CCDS9807.1																																																																																				0.478	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1		NM_015556	
SLC34A1	6569	hgsc.bcm.edu	37	5	176824836	176824836	+	Missense_Mutation	SNP	C	C	G	rs372577906		TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr5:176824836C>G	ENST00000324417.5	+	13	1560	c.1469C>G	c.(1468-1470)cCg>cGg	p.P490R	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	490					arsenate ion transmembrane transport (GO:1901684)|bone remodeling (GO:0046849)|cellular response to metal ion (GO:0071248)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to staurosporine (GO:0072734)|dentinogenesis (GO:0097187)|gentamycin metabolic process (GO:1901128)|glycoprotein metabolic process (GO:0009100)|indole metabolic process (GO:0042431)|ion transport (GO:0006811)|kidney development (GO:0001822)|ossification (GO:0001503)|phosphate ion homeostasis (GO:0055062)|phosphate ion transport (GO:0006817)|positive regulation of membrane potential (GO:0045838)|positive regulation of phosphate transmembrane transport (GO:2000187)|positive regulation of sodium-dependent phosphate transport (GO:2000120)|protein homooligomerization (GO:0051260)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to lead ion (GO:0010288)|response to magnesium ion (GO:0032026)|response to mercury ion (GO:0046689)|response to potassium ion (GO:0035864)|response to thyroid hormone (GO:0097066)|response to vitamin A (GO:0033189)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|tricarboxylic acid metabolic process (GO:0072350)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|membrane-bounded vesicle (GO:0031988)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTGGTACCCGGTGCCCTGC	0.607																																																	0													102.0	89.0	93.0					5																	176824836		2203	4300	6503	SO:0001583	missense	6569			L13258	CCDS4418.1, CCDS54953.1	5q35.3	2013-07-17	2013-07-17		ENSG00000131183	ENSG00000131183		"""Solute carriers"""	11019	protein-coding gene	gene with protein product	"""sodium/phosphate co-transporter"", ""solute carrier family 17 (sodium phosphate), member 2"", ""Na+-phosphate cotransporter type II"""	182309	"""solute carrier family 34 (sodium phosphate), member 1"""	NPT2, SLC17A2		8327470, 8693007	Standard	NM_003052		Approved	NAPI-3, NPTIIa, SLC11	uc003mgk.4	Q06495	OTTHUMG00000130857	ENST00000324417.5:c.1469C>G	5.37:g.176824836C>G	ENSP00000321424:p.Pro490Arg	Somatic		WXS	SOLID	Phase_I	B4DPE3	Missense_Mutation	SNP	ENST00000324417.5	37	CCDS4418.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180810	0.78677	.	.	ENSG00000131183	ENST00000324417	D	0.86164	-2.08	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.95242	0.8457	H	0.96142	3.775	0.50039	D	0.999846	D	0.89917	1.0	D	0.91635	0.999	D	0.96073	0.9047	10	0.87932	D	0	-17.1008	12.1674	0.54138	0.0:0.9216:0.0:0.0784	.	490	Q06495	NPT2A_HUMAN	R	490	ENSP00000321424:P490R	ENSP00000321424:P490R	P	+	2	0	SLC34A1	176757442	1.000000	0.71417	0.968000	0.41197	0.978000	0.69477	4.849000	0.62882	2.426000	0.82243	0.305000	0.20034	CCG		0.607	SLC34A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253431.1		NM_003052	
SLC4A7	9497	hgsc.bcm.edu	37	3	27463253	27463253	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:27463253C>A	ENST00000295736.5	-	9	1327	c.1257G>T	c.(1255-1257)atG>atT	p.M419I	SLC4A7_ENST00000445684.1_Missense_Mutation_p.M415I|SLC4A7_ENST00000388777.4_Intron|SLC4A7_ENST00000428386.1_Missense_Mutation_p.M295I|SLC4A7_ENST00000454389.1_Missense_Mutation_p.M428I|SLC4A7_ENST00000455077.1_Missense_Mutation_p.M300I|SLC4A7_ENST00000446700.1_Missense_Mutation_p.M411I|SLC4A7_ENST00000440156.1_Missense_Mutation_p.M415I|SLC4A7_ENST00000425128.2_Missense_Mutation_p.M411I|RN7SL859P_ENST00000578725.1_RNA|SLC4A7_ENST00000435667.2_Missense_Mutation_p.M304I|SLC4A7_ENST00000437179.1_Missense_Mutation_p.M300I	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	419					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GAATTTTTCTCATGAAATTCA	0.378																																																	0													59.0	62.0	61.0					3																	27463253		2203	4300	6503	SO:0001583	missense	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1257G>T	3.37:g.27463253C>A	ENSP00000295736:p.Met419Ile	Somatic		WXS	SOLID	Phase_I	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946380	0.92593	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.55	5.55	0.83447	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.90515	0.7028	M	0.81341	2.54	0.52501	D	0.999957	P;P;P;D;P;P;P;P	0.63046	0.95;0.854;0.95;0.992;0.95;0.824;0.899;0.944	P;P;P;D;P;P;P;P	0.79108	0.823;0.803;0.823;0.992;0.823;0.702;0.837;0.803	D	0.91018	0.4855	10	0.66056	D	0.02	.	19.5162	0.95167	0.0:1.0:0.0:0.0	.	415;300;411;415;428;295;419;300	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;S4A7_HUMAN;.	I	419;295;428;415;300;411;300;415;304;411;315	ENSP00000295736:M419I;ENSP00000416368:M295I;ENSP00000390394:M428I;ENSP00000414797:M415I;ENSP00000394252:M300I;ENSP00000406605:M411I;ENSP00000407382:M300I;ENSP00000406804:M415I;ENSP00000395336:M304I;ENSP00000401949:M411I;ENSP00000388703:M315I	ENSP00000295736:M419I	M	-	3	0	SLC4A7	27438257	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.737000	0.84957	2.621000	0.88768	0.655000	0.94253	ATG		0.378	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2		NM_003615	
SLITRK1	114798	hgsc.bcm.edu	37	13	84454708	84454708	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr13:84454708G>A	ENST00000377084.2	-	1	1820	c.935C>T	c.(934-936)cCa>cTa	p.P312L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	312					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCAGTTGCCTGGGATCTTTGT	0.552																																																	0													77.0	75.0	76.0					13																	84454708		2203	4300	6503	SO:0001583	missense	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.935C>T	13.37:g.84454708G>A	ENSP00000366288:p.Pro312Leu	Somatic		WXS	SOLID	Phase_I	Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284096	0.23392	.	.	ENSG00000178235	ENST00000377084	T	0.60040	0.22	4.85	4.85	0.62838	.	0.057586	0.64402	D	0.000001	T	0.55545	0.1927	L	0.43923	1.385	0.58432	D	0.999999	B	0.27416	0.178	B	0.35770	0.21	T	0.54111	-0.8342	10	0.37606	T	0.19	-5.4445	16.699	0.85343	0.0:0.0:1.0:0.0	.	312	Q96PX8	SLIK1_HUMAN	L	312	ENSP00000366288:P312L	ENSP00000366288:P312L	P	-	2	0	SLITRK1	83352709	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.632000	0.74281	2.525000	0.85131	0.555000	0.69702	CCA		0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1		NM_052910	
SMARCA4	6597	hgsc.bcm.edu	37	19	11145751	11145751	+	Silent	SNP	C	C	A	rs143621108		TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr19:11145751C>A	ENST00000429416.3	+	30	4394	c.4113C>A	c.(4111-4113)tcC>tcA	p.S1371S	SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000444061.3_Silent_p.S1338S|SMARCA4_ENST00000450717.3_Silent_p.S1338S|SMARCA4_ENST00000344626.4_Silent_p.S1371S|SMARCA4_ENST00000413806.3_Silent_p.S1338S|SMARCA4_ENST00000590574.1_Silent_p.S1338S|SMARCA4_ENST00000541122.2_Silent_p.S1338S|SMARCA4_ENST00000358026.2_Silent_p.S1371S|SMARCA4_ENST00000589677.1_Silent_p.S1338S	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1371					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S1371S(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCGTGGCTCCCGCCACCGCA	0.647			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	2	Unknown(1)|Substitution - coding silent(1)	lung(1)|skin(1)											44.0	36.0	39.0					19																	11145751		2203	4298	6501	SO:0001819	synonymous_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4113C>A	19.37:g.11145751C>A		Somatic		WXS	SOLID	Phase_I	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	c	10.51	1.370811	0.24771	.	.	ENSG00000127616	ENST00000538456	.	.	.	4.59	2.41	0.29592	.	.	.	.	.	T	0.46756	0.1409	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29822	-0.9999	4	.	.	.	-32.9733	4.0242	0.09680	0.165:0.5812:0.1604:0.0934	.	.	.	.	T	108	.	.	P	+	1	0	SMARCA4	11006751	0.089000	0.21612	1.000000	0.80357	0.990000	0.78478	-0.568000	0.05909	0.511000	0.28236	0.558000	0.71614	CCG		0.647	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072	
SMPD2	6610	hgsc.bcm.edu;ucsc.edu	37	6	109763200	109763200	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr6:109763200G>A	ENST00000258052.3	+	4	607	c.248G>A	c.(247-249)tGt>tAt	p.C83Y	PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	83					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		AGTGGCCTCTGTGTCTTCTCC	0.517																																																	0													253.0	250.0	251.0					6																	109763200		2203	4300	6503	SO:0001583	missense	6610			AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.248G>A	6.37:g.109763200G>A	ENSP00000258052:p.Cys83Tyr	Somatic		WXS	SOLID	Phase_I	Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351561	0.61183	.	.	ENSG00000135587	ENST00000258052	T	0.80824	-1.42	5.22	5.22	0.72569	Endonuclease/exonuclease/phosphatase (2);	0.096347	0.64402	D	0.000001	D	0.84880	0.5570	M	0.71036	2.16	0.49483	D	0.99979	D	0.76494	0.999	D	0.74348	0.983	T	0.82002	-0.0673	10	0.27785	T	0.31	-8.9649	14.1553	0.65413	0.0:0.0:1.0:0.0	.	83	O60906	NSMA_HUMAN	Y	83	ENSP00000258052:C83Y	ENSP00000258052:C83Y	C	+	2	0	SMPD2	109869893	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	5.558000	0.67319	2.720000	0.93068	0.655000	0.94253	TGT		0.517	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			
SNIP1	79753	hgsc.bcm.edu;ucsc.edu	37	1	38006224	38006225	+	Frame_Shift_Ins	INS	-	-	A	rs372938268		TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:38006224_38006225insA	ENST00000296215.6	-	3	531_532	c.459_460insT	c.(457-462)tctaacfs	p.N154fs	SNIP1_ENST00000468040.1_5'UTR	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	154	Arg-rich.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GGCCTCTCGTTAGACGTTCTCC	0.584																																																	0																																										SO:0001589	frameshift_variant	79753				CCDS419.1	1p34.3	2010-07-06			ENSG00000163877	ENSG00000163877			30587	protein-coding gene	gene with protein product		608241				10887155, 15378006	Standard	NM_024700		Approved		uc001cbi.4	Q8TAD8	OTTHUMG00000004225	ENST00000296215.6:c.460dupT	1.37:g.38006225_38006225dupA	ENSP00000296215:p.Asn154fs	Somatic		WXS	SOLID	Phase_I	Q96SP9|Q9H9T7	Frame_Shift_Ins	INS	ENST00000296215.6	37	CCDS419.1																																																																																				0.584	SNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012169.2		NM_024700	
SYBU	55638	hgsc.bcm.edu;ucsc.edu	37	8	110588188	110588188	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr8:110588188C>A	ENST00000422135.1	-	8	1454	c.939G>T	c.(937-939)tgG>tgT	p.W313C	SYBU_ENST00000532779.1_Missense_Mutation_p.W245C|SYBU_ENST00000533065.1_Missense_Mutation_p.W194C|SYBU_ENST00000446070.2_Missense_Mutation_p.W312C|SYBU_ENST00000533171.1_Missense_Mutation_p.W313C|SYBU_ENST00000424158.2_Missense_Mutation_p.W318C|SYBU_ENST00000440310.1_Missense_Mutation_p.W313C|SYBU_ENST00000276646.9_Missense_Mutation_p.W313C|SYBU_ENST00000399066.3_Missense_Mutation_p.W310C|SYBU_ENST00000433638.1_Missense_Mutation_p.W313C|SYBU_ENST00000408908.2_Missense_Mutation_p.W313C|SYBU_ENST00000419099.1_Missense_Mutation_p.W312C|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000529175.1_Missense_Mutation_p.W107C|SYBU_ENST00000529690.1_Missense_Mutation_p.W183C|SYBU_ENST00000408889.3_Missense_Mutation_p.W194C|SYBU_ENST00000528647.1_Missense_Mutation_p.W312C|SYBU_ENST00000528331.1_Missense_Mutation_p.W194C|SYBU_ENST00000533895.1_Missense_Mutation_p.W312C	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	313	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CCTCCTCAATCCAGTCCTCTC	0.473																																																	0													56.0	57.0	57.0					8																	110588188		1989	4217	6206	SO:0001583	missense	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.939G>T	8.37:g.110588188C>A	ENSP00000407118:p.Trp313Cys	Somatic		WXS	SOLID	Phase_I	A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042551	0.75732	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83580	0.5285	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999	D	0.84968	0.0881	9	0.87932	D	0	-16.9058	19.0385	0.92989	0.0:1.0:0.0:0.0	.	183;245;312;313;310	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	C	312;318;245;310;312;194;107;313;312;313;312;313;313;313;194;194;183;313	.	ENSP00000276646:W313C	W	-	3	0	SYBU	110657364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.743000	0.85020	2.736000	0.93811	0.591000	0.81541	TGG		0.473	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1		NM_017786	
SYNE1	23345	hgsc.bcm.edu;ucsc.edu	37	6	152776696	152776696	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr6:152776696C>A	ENST00000367255.5	-	24	3358	c.2757G>T	c.(2755-2757)aaG>aaT	p.K919N	SYNE1_ENST00000367253.4_Missense_Mutation_p.K919N|SYNE1_ENST00000495090.2_Missense_Mutation_p.K486N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K926N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K919N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K985N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K919N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K926N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K909N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	919					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)		CCACATGCTTCTTCCAATCTC	0.428										HNSCC(10;0.0054)																																							0													115.0	114.0	114.0					6																	152776696		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.2757G>T	6.37:g.152776696C>A	ENSP00000356224:p.Lys919Asn	Somatic		WXS	SOLID	Phase_I	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	.	.	.	.	.	.	.	.	.	.	C	17.87	3.496117	0.64186	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.48	3.44	0.39384	.	0.096969	0.44285	D	0.000477	T	0.25121	0.0610	L	0.43152	1.355	0.80722	D	1	P;P;P;P;D;P;P	0.56035	0.835;0.611;0.835;0.731;0.974;0.611;0.731	B;B;P;P;P;B;P	0.54100	0.35;0.159;0.549;0.452;0.742;0.159;0.452	T	0.02385	-1.1167	10	0.18710	T	0.47	.	11.0095	0.47654	0.0:0.7502:0.0:0.2498	.	902;919;486;909;919;919;926	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	N	919;926;919;926;985;919;909;919;486	ENSP00000356224:K919N;ENSP00000396024:K926N;ENSP00000265368:K919N;ENSP00000390975:K926N;ENSP00000341887:K985N;ENSP00000356222:K919N;ENSP00000356217:K909N;ENSP00000414510:K919N;ENSP00000438508:K486N	ENSP00000265368:K919N	K	-	3	2	SYNE1	152818389	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	0.473000	0.22132	1.297000	0.44761	0.655000	0.94253	AAG		0.428	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2		NM_182961	
SYP	6855	hgsc.bcm.edu	37	X	49049790	49049790	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrX:49049790T>C	ENST00000263233.4	-	5	626	c.554A>G	c.(553-555)cAg>cGg	p.Q185R	SYP_ENST00000479808.1_Missense_Mutation_p.Q185R|SYP_ENST00000538567.1_Missense_Mutation_p.Q67R	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	185	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GTTCCCTGTCTGGCGGCAGAC	0.572																																																	0													104.0	71.0	82.0					X																	49049790		2203	4300	6503	SO:0001583	missense	6855			X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.554A>G	X.37:g.49049790T>C	ENSP00000263233:p.Gln185Arg	Somatic		WXS	SOLID	Phase_I	B2R7L6|B7Z359|Q6P2F7	Missense_Mutation	SNP	ENST00000263233.4	37	CCDS14321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.316|9.316	1.056748|1.056748	0.19907|0.19907	.|.	.|.	ENSG00000102003|ENSG00000102003	ENST00000263233;ENST00000538567;ENST00000479808|ENST00000472598	T;T;T|.	0.70164|.	-0.46;-0.46;-0.46|.	5.11|5.11	3.93|3.93	0.45458|0.45458	Marvel (1);MARVEL-like domain (1);|.	0.278172|.	0.36665|.	N|.	0.002478|.	T|T	0.24160|0.24160	0.0585|0.0585	N|N	0.16266|0.16266	0.395|0.395	0.18873|0.18873	N|N	0.999989|0.999989	B|.	0.16396|.	0.017|.	B|.	0.15484|.	0.013|.	T|T	0.19549|0.19549	-1.0302|-1.0302	10|5	0.17832|.	T|.	0.49|.	-4.3796|-4.3796	9.5604|9.5604	0.39366|0.39366	0.1596:0.0:0.0:0.8404|0.1596:0.0:0.0:0.8404	.|.	185|.	P08247|.	SYPH_HUMAN|.	R|G	185;67;185|75	ENSP00000263233:Q185R;ENSP00000437456:Q67R;ENSP00000418169:Q185R|.	ENSP00000263233:Q185R|.	Q|R	-|-	2|1	0|2	SYP|SYP	48936734|48936734	0.992000|0.992000	0.36948|0.36948	0.970000|0.970000	0.41538|0.41538	0.980000|0.980000	0.70556|0.70556	3.802000|3.802000	0.55553|0.55553	0.740000|0.740000	0.32651|0.32651	0.486000|0.486000	0.48141|0.48141	CAG|AGA		0.572	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083625.2		NM_003179	
TECTA	7007	hgsc.bcm.edu;ucsc.edu	37	11	121000530	121000530	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:121000530T>A	ENST00000392793.1	+	10	2822	c.2551T>A	c.(2551-2553)Ttc>Atc	p.F851I	TECTA_ENST00000264037.2_Missense_Mutation_p.F851I			O75443	TECTA_HUMAN	tectorin alpha	851	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTTGTGCGGCTTCTACAATGC	0.542																																																	0													141.0	133.0	136.0					11																	121000530		2203	4299	6502	SO:0001583	missense	7007			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2551T>A	11.37:g.121000530T>A	ENSP00000376543:p.Phe851Ile	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000392793.1	37	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	T	10.84	1.463516	0.26248	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.58652	0.32;0.32	5.56	5.56	0.83823	von Willebrand factor, type D domain (3);	0.060049	0.64402	D	0.000002	T	0.46889	0.1416	L	0.44542	1.39	0.33989	D	0.648957	B	0.31125	0.309	B	0.28232	0.087	T	0.57751	-0.7757	10	0.23302	T	0.38	.	11.6173	0.51096	0.0:0.0713:0.0:0.9287	.	851	O75443	TECTA_HUMAN	I	851	ENSP00000376543:F851I;ENSP00000264037:F851I	ENSP00000264037:F851I	F	+	1	0	TECTA	120505740	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	3.780000	0.55386	2.126000	0.65437	0.460000	0.39030	TTC		0.542	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1		NM_005422	
TET2	54790	hgsc.bcm.edu;ucsc.edu	37	4	106193890	106193890	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr4:106193890G>A	ENST00000540549.1	+	10	5212	c.4352G>A	c.(4351-4353)cGg>cAg	p.R1451Q	TET2_ENST00000513237.1_Missense_Mutation_p.R1472Q|TET2_ENST00000380013.4_Missense_Mutation_p.R1451Q|TET2_ENST00000545826.1_3'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1451					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGTTCTTTTCGGCGAAAAGTC	0.483			"""Mis N, F"""		MDS																																			Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													141.0	133.0	135.0					4																	106193890		692	1591	2283	SO:0001583	missense	54790			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4352G>A	4.37:g.106193890G>A	ENSP00000442788:p.Arg1451Gln	Somatic		WXS	SOLID	Phase_I	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847914	0.71603	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.21191	2.02;2.02;2.02	5.23	3.46	0.39613	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.40767	0.1130	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.10706	-1.0618	9	0.35671	T	0.21	-13.2179	10.9041	0.47069	0.0706:0.1308:0.7987:0.0	.	1472;1451	E7EQS8;Q6N021	.;TET2_HUMAN	Q	1451;1472;1451	ENSP00000442788:R1451Q;ENSP00000425443:R1472Q;ENSP00000369351:R1451Q	ENSP00000369351:R1451Q	R	+	2	0	TET2	106413339	1.000000	0.71417	0.537000	0.28052	0.384000	0.30261	4.861000	0.62969	0.860000	0.35481	0.655000	0.94253	CGG		0.483	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2		NM_017628	
TMX2	51075	hgsc.bcm.edu;ucsc.edu	37	11	57480238	57480238	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr11:57480238C>T	ENST00000278422.4	+	1	160	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	TMX2-CTNND1_ENST00000528395.1_Missense_Mutation_p.P50S|MED19_ENST00000337672.2_5'Flank|MED19_ENST00000431606.2_5'Flank|TMX2_ENST00000378312.4_Missense_Mutation_p.P50S	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	50					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						CCACGGTCTGCCCACCCAACG	0.607																																																	0													77.0	70.0	73.0					11																	57480238		2201	4296	6497	SO:0001583	missense	51075			AF132965	CCDS7967.1, CCDS44601.1	11q12.1	2012-09-20	2009-02-23	2009-02-23	ENSG00000213593	ENSG00000213593		"""Protein disulfide isomerases"""	30739	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 12"""		"""thioredoxin domain containing 14"""	TXNDC14		12670024	Standard	NM_015959		Approved	PDIA12	uc001nlc.2	Q9Y320	OTTHUMG00000167200	ENST00000278422.4:c.148C>T	11.37:g.57480238C>T	ENSP00000278422:p.Pro50Ser	Somatic		WXS	SOLID	Phase_I	B7Z4R4|Q53G73|Q561W0|Q5J7Q7|Q8NBP9|Q9H3L1	Missense_Mutation	SNP	ENST00000278422.4	37	CCDS7967.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.528583	0.27299	.	.	ENSG00000213593	ENST00000378312;ENST00000278422	T	0.44881	0.91	5.98	5.98	0.97165	.	0.222665	0.38897	U	0.001527	T	0.31295	0.0792	N	0.21448	0.665	0.49299	D	0.99977	B;B	0.24882	0.113;0.03	B;B	0.24006	0.05;0.004	T	0.13469	-1.0508	10	0.07990	T	0.79	-5.4518	20.0512	0.97629	0.0:1.0:0.0:0.0	.	50;50	Q9Y320-2;Q9Y320	.;TMX2_HUMAN	S	50	ENSP00000367562:P50S	ENSP00000436274:P50S	P	+	1	0	TMX2	57236814	1.000000	0.71417	0.993000	0.49108	0.213000	0.24496	2.671000	0.46842	2.847000	0.97988	0.591000	0.81541	CCC		0.607	TMX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393708.1		NM_015959	
TOP3A	7156	hgsc.bcm.edu;ucsc.edu	37	17	18205997	18205997	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr17:18205997C>A	ENST00000321105.5	-	6	754	c.540G>T	c.(538-540)gaG>gaT	p.E180D	TOP3A_ENST00000542570.1_Missense_Mutation_p.E85D	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	180					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GGGGTGTGATCTCAGAGAATC	0.532																																																	0													100.0	83.0	89.0					17																	18205997		2203	4300	6503	SO:0001583	missense	7156			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.540G>T	17.37:g.18205997C>A	ENSP00000321636:p.Glu180Asp	Somatic		WXS	SOLID	Phase_I	A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	CCDS11194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.59|15.59	2.877318|2.877318	0.51801|0.51801	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000412083|ENST00000321105;ENST00000542570	.|T;T	.|0.25085	.|1.82;2.85	6.07|6.07	4.92|4.92	0.64577|0.64577	.|DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, domain 2 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53449|0.53449	0.1797|0.1797	M|M	0.81112|0.81112	2.525|2.525	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.998;0.998	.|D;D	.|0.75484	.|0.98;0.986	T|T	0.55418|0.55418	-0.8144|-0.8144	5|10	.|0.59425	.|D	.|0.04	-40.2069|-40.2069	16.2658|16.2658	0.82579|0.82579	0.0:0.927:0.0:0.073|0.0:0.927:0.0:0.073	.|.	.|85;180	.|B4DK80;Q13472	.|.;TOP3A_HUMAN	Y|D	160|180;85	.|ENSP00000321636:E180D;ENSP00000442336:E85D	.|ENSP00000321636:E180D	D|E	-|-	1|3	0|2	TOP3A|TOP3A	18146722|18146722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	4.811000|4.811000	0.62606|0.62606	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAT|GAG		0.532	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			
TUBGCP6	85378	hgsc.bcm.edu	37	22	50682273	50682273	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr22:50682273A>T	ENST00000248846.5	-	1	720	c.616T>A	c.(616-618)Ttc>Atc	p.F206I	MAPK12_ENST00000497036.1_5'Flank|HDAC10_ENST00000498366.1_5'Flank|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.F206I			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	206					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTCTCTCGAACCTGTCACCA	0.612																																																	0													46.0	48.0	47.0					22																	50682273		2203	4300	6503	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.616T>A	22.37:g.50682273A>T	ENSP00000248846:p.Phe206Ile	Somatic		WXS	SOLID	Phase_I	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432336	0.83776	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.25579	2.12;1.79	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.47525	0.1450	M	0.67953	2.075	0.50171	D	0.999857	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.75484	0.972;0.986;0.986	T	0.50866	-0.8777	10	0.72032	D	0.01	.	12.9317	0.58290	1.0:0.0:0.0:0.0	.	206;206;206	A7E2V7;B2RWN4;Q96RT7	.;.;GCP6_HUMAN	I	206	ENSP00000248846:F206I;ENSP00000397387:F206I	ENSP00000248846:F206I	F	-	1	0	TUBGCP6	49024400	1.000000	0.71417	0.824000	0.32777	0.414000	0.31173	6.960000	0.76036	1.720000	0.51447	0.459000	0.35465	TTC		0.612	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3		NM_020461	
TWISTNB	221830	hgsc.bcm.edu;ucsc.edu	37	7	19738224	19738224	+	Silent	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr7:19738224G>A	ENST00000222567.5	-	4	802	c.732C>T	c.(730-732)acC>acT	p.T244T		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	244	Lys-rich.				transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTAGCTTTGTGGTACCACTGT	0.428																																																	0													237.0	246.0	243.0					7																	19738224		2203	4300	6503	SO:0001819	synonymous_variant	221830			AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.732C>T	7.37:g.19738224G>A		Somatic		WXS	SOLID	Phase_I	A0PJ45|B7Z724	Silent	SNP	ENST00000222567.5	37	CCDS34606.1																																																																																				0.428	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			
USH2A	7399	hgsc.bcm.edu;ucsc.edu	37	1	216465660	216465660	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr1:216465660T>G	ENST00000307340.3	-	10	2083	c.1697A>C	c.(1696-1698)cAa>cCa	p.Q566P	USH2A_ENST00000366943.2_Missense_Mutation_p.Q566P|USH2A_ENST00000366942.3_Missense_Mutation_p.Q566P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	566	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGCGTAAACTTGATCACCTTG	0.383										HNSCC(13;0.011)																																							0													103.0	96.0	99.0					1																	216465660		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1697A>C	1.37:g.216465660T>G	ENSP00000305941:p.Gln566Pro	Somatic		WXS	SOLID	Phase_I	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754699	0.69648	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.62639	0.01;0.01;0.01	4.81	4.81	0.61882	EGF-like, laminin (2);	0.559054	0.14758	U	0.300180	T	0.59335	0.2186	L	0.46947	1.48	0.50813	D	0.999894	B;P	0.35821	0.045;0.523	B;B	0.39562	0.052;0.303	T	0.55958	-0.8058	10	0.30854	T	0.27	.	14.3867	0.66949	0.0:0.0:0.0:1.0	.	566;566	O75445-2;O75445	.;USH2A_HUMAN	P	566	ENSP00000305941:Q566P;ENSP00000355910:Q566P;ENSP00000355909:Q566P	ENSP00000305941:Q566P	Q	-	2	0	USH2A	214532283	1.000000	0.71417	0.355000	0.25773	0.989000	0.77384	2.749000	0.47492	1.810000	0.52873	0.383000	0.25322	CAA		0.383	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123	
USP6	9098	hgsc.bcm.edu	37	17	5066236	5066236	+	Silent	SNP	C	C	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr17:5066236C>A	ENST00000574788.1	+	33	5203	c.2973C>A	c.(2971-2973)gcC>gcA	p.A991A	USP6_ENST00000250066.6_Silent_p.A991A|USP6_ENST00000304328.5_Silent_p.A674A|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	991	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTGGAAATGCCTATATTGCTG	0.428			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0													167.0	170.0	169.0					17																	5066236		2203	4300	6503	SO:0001819	synonymous_variant	9098			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2973C>A	17.37:g.5066236C>A		Somatic		WXS	SOLID	Phase_I	Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	CCDS11069.2																																																																																				0.428	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1		NM_004505	
USP9X	8239	hgsc.bcm.edu;ucsc.edu	37	X	41025335	41025335	+	Silent	SNP	A	A	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chrX:41025335A>G	ENST00000324545.8	+	16	2829	c.2196A>G	c.(2194-2196)ttA>ttG	p.L732L	USP9X_ENST00000378308.2_Silent_p.L732L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	732					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.L725L(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTTCTCTGTTAACTGAAAATG	0.383																																					Ovarian(172;1807 2695 35459 49286)												1	Substitution - coding silent(1)	breast(1)											115.0	109.0	111.0					X																	41025335		2201	4300	6501	SO:0001819	synonymous_variant	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2196A>G	X.37:g.41025335A>G		Somatic		WXS	SOLID	Phase_I	O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	CCDS43930.1																																																																																				0.383	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4		NM_004652	
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10191479	10191479	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:10191479C>G	ENST00000256474.2	+	3	1312	c.472C>G	c.(472-474)Ctg>Gtg	p.L158V	VHL_ENST00000345392.2_Missense_Mutation_p.L117V|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	158	Interaction with Elongin BC complex.		L -> P (in VHLD; type I-II; abolishes release from chaperonin complex and the interaction with Elongin BC complex). {ECO:0000269|PubMed:10635329, ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|L -> V (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L158V(12)|p.V155fs*15(2)|p.L158_K159del(1)|p.T157fs*14(1)|p.L158fs*16(1)|p.V155_K159delVYTLK(1)|p.T157_K159del(1)|p.Y156*(1)|p.T157_K159>I(1)|p.L158fs*6(1)|p.L158fs*1(1)|p.L158fs*15(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGTGTATACTCTGAAAGAGCG	0.498		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	24	Substitution - Missense(12)|Deletion - Frameshift(7)|Deletion - In frame(3)|Complex - deletion inframe(1)|Insertion - Frameshift(1)	kidney(23)|soft_tissue(1)	GRCh37	CM941380	VHL	M							89.0	81.0	84.0					3																	10191479		2203	4300	6503	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.472C>G	3.37:g.10191479C>G	ENSP00000256474:p.Leu158Val	Somatic		WXS	SOLID	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090345	0.55968	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99830	-7.01;-7.01	4.86	3.07	0.35406	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000003	D	0.99680	0.9880	M	0.75777	2.31	0.39234	D	0.963723	D;D	0.76494	0.999;0.99	D;D	0.80764	0.994;0.992	D	0.98323	1.0529	10	0.87932	D	0	-5.6982	9.2424	0.37504	0.0:0.8287:0.0:0.1713	.	117;158	P40337-2;P40337	.;VHL_HUMAN	V	158;117;76	ENSP00000256474:L158V;ENSP00000344757:L117V	ENSP00000256474:L158V	L	+	1	2	VHL	10166479	0.995000	0.38212	0.989000	0.46669	0.613000	0.37349	1.729000	0.38115	0.765000	0.33221	0.655000	0.94253	CTG		0.498	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WNK1	65125	hgsc.bcm.edu;ucsc.edu	37	12	1005370	1005370	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr12:1005370A>T	ENST00000315939.6	+	24	6360	c.5717A>T	c.(5716-5718)aAa>aTa	p.K1906I	WNK1_ENST00000530271.2_Missense_Mutation_p.K2404I|WNK1_ENST00000537687.1_Missense_Mutation_p.K2166I|WNK1_ENST00000535572.1_Missense_Mutation_p.K1658I|WNK1_ENST00000340908.4_Missense_Mutation_p.K1499I	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1906					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACCTTGGTGAAACCAGAGCCG	0.473																																					Colon(19;451 567 6672 12618 28860)												0													87.0	84.0	85.0					12																	1005370		2203	4300	6503	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5717A>T	12.37:g.1005370A>T	ENSP00000313059:p.Lys1906Ile	Somatic		WXS	SOLID	Phase_I	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.105491	0.37145	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.77358	-1.09;-1.04;-1.03;-1.06;0.29	5.91	4.75	0.60458	.	0.080321	0.53938	D	0.000060	D	0.83894	0.5353	M	0.61703	1.905	0.38708	D	0.953144	D;D;D	0.61080	0.979;0.989;0.981	P;P;P	0.61201	0.839;0.885;0.694	D	0.85860	0.1409	10	0.66056	D	0.02	-4.2658	12.2249	0.54455	0.9332:0.0:0.0668:0.0	.	1659;1658;1906	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	I	1658;1906;2166;1079;2404;1499	ENSP00000441972:K1658I;ENSP00000313059:K1906I;ENSP00000444465:K2166I;ENSP00000433548:K2404I;ENSP00000341292:K1499I	ENSP00000252477:K1079I	K	+	2	0	WNK1	875631	1.000000	0.71417	0.998000	0.56505	0.163000	0.22366	5.119000	0.64679	1.038000	0.40049	0.528000	0.53228	AAA		0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1		NM_018979	
XPC	7508	hgsc.bcm.edu;ucsc.edu	37	3	14188813	14188813	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:14188813G>T	ENST00000285021.7	-	15	2795	c.2581C>A	c.(2581-2583)Ctg>Atg	p.L861M	XPC_ENST00000449060.2_Missense_Mutation_p.L824M|AC093495.4_ENST00000428681.3_RNA|RP11-434D12.1_ENST00000601399.1_Intron|AC093495.4_ENST00000420253.1_RNA|RP11-434D12.1_ENST00000608606.1_Intron	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	861	Interaction with CETN2.|Interaction with ERCC2 and GTF2H1.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CGACGCTTCAGCCTCTCCCTG	0.532			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""xeroderma pigmentosum, complementation group C"""		E	0													55.0	59.0	58.0					3																	14188813		1987	4153	6140	SO:0001583	missense	7508	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2581C>A	3.37:g.14188813G>T	ENSP00000285021:p.Leu861Met	Somatic		WXS	SOLID	Phase_I	B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800745	0.70567	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.55052	0.54;0.59	5.18	4.31	0.51392	.	0.000000	0.64402	D	0.000001	T	0.73923	0.3649	M	0.86651	2.83	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.78484	-0.2186	10	0.72032	D	0.01	-14.7091	11.8844	0.52594	0.1447:0.0:0.8553:0.0	.	824;861	E9PH69;Q01831	.;XPC_HUMAN	M	861;824	ENSP00000285021:L861M;ENSP00000404002:L824M	ENSP00000285021:L861M	L	-	1	2	XPC	14163814	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	3.172000	0.50832	1.411000	0.46957	0.591000	0.81541	CTG		0.532	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3		NM_004628	
ZCCHC2	54877	hgsc.bcm.edu;ucsc.edu	37	18	60242638	60242638	+	Silent	SNP	T	T	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr18:60242638T>C	ENST00000269499.5	+	13	3742	c.3324T>C	c.(3322-3324)taT>taC	p.Y1108Y	ZCCHC2_ENST00000586834.1_Silent_p.Y787Y	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1108						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GGAGATTCTATCCTGTATATC	0.498																																																	0													109.0	108.0	109.0					18																	60242638		1991	4158	6149	SO:0001819	synonymous_variant	54877			AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.3324T>C	18.37:g.60242638T>C		Somatic		WXS	SOLID	Phase_I	B2RPG6|Q8N3S1|Q9NXF6	Silent	SNP	ENST00000269499.5	37	CCDS45880.1																																																																																				0.498	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1		NM_017742	
ZKSCAN1	7586	hgsc.bcm.edu;ucsc.edu	37	7	99631799	99631799	+	Silent	SNP	G	G	A			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr7:99631799G>A	ENST00000324306.6	+	6	1905	c.1671G>A	c.(1669-1671)gcG>gcA	p.A557A	ZKSCAN1_ENST00000426572.1_Silent_p.A521A|ZKSCAN1_ENST00000535170.1_Silent_p.A344A	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	557					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)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CATTTGGCGCGTTCCTGAAAA	0.488																																																	0													95.0	90.0	92.0					7																	99631799		2203	4300	6503	SO:0001819	synonymous_variant	7586			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1671G>A	7.37:g.99631799G>A		Somatic		WXS	SOLID	Phase_I	A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Silent	SNP	ENST00000324306.6	37	CCDS34698.1																																																																																				0.488	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2		NM_003439	
ZNF441	126068	hgsc.bcm.edu;ucsc.edu	37	19	11892094	11892094	+	Silent	SNP	T	T	C			TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr19:11892094T>C	ENST00000357901.4	+	4	1557	c.1455T>C	c.(1453-1455)tcT>tcC	p.S485S	ZNF441_ENST00000454339.2_Silent_p.S418S	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGCACTTTCTCATCTGAAAA	0.408																																																	0													82.0	82.0	82.0					19																	11892094		2203	4300	6503	SO:0001819	synonymous_variant	126068			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1455T>C	19.37:g.11892094T>C		Somatic		WXS	SOLID	Phase_I		Silent	SNP	ENST00000357901.4	37	CCDS12266.2																																																																																				0.408	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3		NM_152355	
SETD2	29072	ucsc.edu	37	3	47163824	47163824	+	Missense_Mutation	SNP	C	C	G	rs9311404	byFrequency	TCGA-CZ-4861-01A-01D-1373-10	TCGA-CZ-4861-11A-01D-1373-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	b0fe8da0-5e6a-4893-ac30-fff975c80b50	3f6e4528-5418-418d-a5a6-2fe960a857fe	g.chr3:47163824C>G	ENST00000409792.3	-	3	2344	c.2302G>C	c.(2302-2304)Gtg>Ctg	p.V768L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	768			V -> L (in dbSNP:rs9311404).		angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAATAATCCACAGTCATAACT	0.398			"""N, F, S, Mis"""		clear cell renal carcinoma								C|||	13	0.00259585	0.0098	0.0	5008	,	,		21005	0.0		0.0	False		,,,				2504	0.0					.		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0								C	LEU/VAL	41,4365	44.6+/-78.6	0,41,2162	159.0	155.0	156.0		2302	-3.7	0.0	3	dbSNP_119	156	0,8600		0,0,4300	yes	missense	SETD2	NM_014159.6	32	0,41,6462	GG,GC,CC		0.0,0.9305,0.3152	benign	768/2565	47163824	41,12965	2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2302G>C	3.37:g.47163824C>G	ENSP00000386759:p.Val768Leu	Somatic		WXS	SOLID	.	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	C	11.31	1.600787	0.28534	0.009305	0.0	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89746	-2.56;1.28	5.18	-3.65	0.04502	.	1.478610	0.03796	N	0.263571	T	0.73481	0.3592	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.62656	-0.6808	9	.	.	.	.	8.7986	0.34894	0.0:0.6176:0.1537:0.2287	rs9311404;rs9311404	768;768	F2Z317;Q9BYW2	.;SETD2_HUMAN	L	768;768;768;724	ENSP00000386759:V768L;ENSP00000416401:V724L	.	V	-	1	0	SETD2	47138828	0.002000	0.14202	0.009000	0.14445	0.591000	0.36615	-0.245000	0.08890	-0.508000	0.06540	-1.063000	0.02288	GTG		0.398	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
