#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
ABCA2	20	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139906470	139906470	+	Splice_Site	SNP	C	C	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr9:139906470C>T	ENST00000371605.3	-	34	5505	c.5358G>A	c.(5356-5358)ctG>ctA	p.L1786L	ABCA2_ENST00000265662.5_Splice_Site_p.L1787L|ABCA2_ENST00000341511.6_Splice_Site_p.L1787L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1786					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.L1787L(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGCCCTGCAGCCTGGGGCAAG	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											72.0	82.0	79.0					9																	139906470		2166	4254	6420	SO:0001630	splice_region_variant	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.5358-1G>A	9.37:g.139906470C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37																																																																																					0.632	ABCA2-202	KNOWN	basic	protein_coding	protein_coding			NM_001606	Silent
ABCA5	23461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	67302951	67302951	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr17:67302951A>T	ENST00000392676.3	-	6	767	c.703T>A	c.(703-705)Ttt>Att	p.F235I	ABCA5_ENST00000392677.2_Missense_Mutation_p.F235I|ABCA5_ENST00000588877.1_Missense_Mutation_p.F235I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	235					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.F235I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ATTGCCAAAAAGTATCCAAAA	0.299																																																	1	Substitution - Missense(1)	kidney(1)											38.0	41.0	40.0					17																	67302951		2201	4296	6497	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.703T>A	17.37:g.67302951A>T	ENSP00000376443:p.Phe235Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.312514	0.81358	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.82711	-1.64;-1.64	5.13	5.13	0.70059	.	0.118121	0.39146	N	0.001443	D	0.85225	0.5648	L	0.56199	1.76	0.49798	D	0.999824	P;P	0.46457	0.726;0.878	B;P	0.52031	0.354;0.688	D	0.84704	0.0730	9	.	.	.	.	14.9434	0.71012	1.0:0.0:0.0:0.0	.	235;235	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	I	235	ENSP00000376444:F235I;ENSP00000376443:F235I	.	F	-	1	0	ABCA5	64814546	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.753000	0.85153	1.907000	0.55213	0.533000	0.62120	TTT		0.299	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1		NM_018672	
ASIC4	55515	hgsc.bcm.edu	37	2	220379775	220379776	+	Frame_Shift_Ins	INS	-	-	G	rs138559599		TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr2:220379775_220379776insG	ENST00000347842.3	+	1	724_725	c.710_711insG	c.(709-714)gcgggcfs	p.AG237fs	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000358078.4_Frame_Shift_Ins_p.AG237fs	NM_182847.2	NP_878267.2	Q96FT7	ASIC4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	237					ion transmembrane transport (GO:0034220)|sodium ion transmembrane transport (GO:0035725)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)	ion channel activity (GO:0005216)|sodium channel activity (GO:0005272)|sodium ion transmembrane transporter activity (GO:0015081)										GCCCCAGTGGCGGGCTTCCCGG	0.678																																																	0																																										SO:0001589	frameshift_variant	0			AJ271643	CCDS2442.1	2q36.1	2012-02-22	2012-02-22	2012-02-22	ENSG00000072182	ENSG00000072182		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	21263	protein-coding gene	gene with protein product		606715	"""amiloride-sensitive cation channel 4, pituitary"", ""amiloride-sensitive cation channel family member 4, pituitary"""	ACCN4		10852210	Standard	NM_182847		Approved	BNAC4	uc002vma.3	Q96FT7	OTTHUMG00000058928	ENST00000347842.3:c.713dupG	2.37:g.220379778_220379778dupG	ENSP00000326627:p.Ala237fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q53SB7|Q6GMS1|Q6PIN9|Q9NQA4	Frame_Shift_Ins	INS	ENST00000347842.3	37	CCDS2442.1																																																																																				0.678	ASIC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130263.1		NM_018674	
ACLY	47	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40061042	40061042	+	Splice_Site	SNP	G	G	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr17:40061042G>T	ENST00000352035.2	-	10	1135	c.1005C>A	c.(1003-1005)ggC>ggA	p.G335G	ACLY_ENST00000537919.1_Intron|ACLY_ENST00000393896.2_Splice_Site_p.G335G|ACLY_ENST00000353196.1_Splice_Site_p.G335G|ACLY_ENST00000590151.1_Splice_Site_p.G335G	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	335					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.G335G(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TGAGGATCTTGCCTGGATTTG	0.473																																					Colon(64;807 1396 15971 30971)												1	Substitution - coding silent(1)	kidney(1)											105.0	91.0	96.0					17																	40061042		2203	4300	6503	SO:0001630	splice_region_variant	47			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1004-1C>A	17.37:g.40061042G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	CCDS11412.1																																																																																				0.473	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1		NM_001096	Silent
ADAM29	11086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	175896895	175896895	+	Silent	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr4:175896895G>A	ENST00000359240.3	+	5	889	c.219G>A	c.(217-219)ttG>ttA	p.L73L	ADAM29_ENST00000445694.1_Silent_p.L73L|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Silent_p.L73L|ADAM29_ENST00000404450.4_Silent_p.L73L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	73					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L73L(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGAAGCTTTTGTTTTCCAAAC	0.493																																					Ovarian(140;1727 1835 21805 25838 41440)												1	Substitution - coding silent(1)	kidney(1)											47.0	46.0	46.0					4																	175896895		2203	4300	6503	SO:0001819	synonymous_variant	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.219G>A	4.37:g.175896895G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	CCDS3823.1																																																																																				0.493	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				
ADAMTS14	140766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	72493772	72493772	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr10:72493772G>A	ENST00000373207.1	+	8	1340	c.1340G>A	c.(1339-1341)aGc>aAc	p.S447N	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.S450N	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	447	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S450N(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTGGAGCTCAGCCGCTACCTC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											62.0	55.0	57.0					10																	72493772		2203	4300	6503	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1340G>A	10.37:g.72493772G>A	ENSP00000362303:p.Ser447Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310501	0.23821	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	D;D	0.86694	-2.16;-2.16	3.79	2.87	0.33458	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.113338	0.56097	D	0.000023	T	0.69548	0.3123	N	0.10707	0.03	0.33337	D	0.569418	B;B	0.09022	0.002;0.002	B;B	0.14023	0.01;0.01	T	0.67921	-0.5545	10	0.46703	T	0.11	.	3.8507	0.08954	0.3586:0.0:0.6414:0.0	.	447;450	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	N	450;447	ENSP00000362304:S450N;ENSP00000362303:S447N	ENSP00000362303:S447N	S	+	2	0	ADAMTS14	72163778	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.132000	0.64758	2.117000	0.64856	0.462000	0.41574	AGC		0.642	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1		NM_080722	
APOBEC1	339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	7807218	7807218	+	Silent	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr12:7807218G>A	ENST00000229304.4	-	2	47	c.27C>T	c.(25-27)acC>acT	p.T9T		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	9					cellular response to insulin stimulus (GO:0032869)|cytidine deamination (GO:0009972)|cytidine to uridine editing (GO:0016554)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|gene expression (GO:0010467)|lipid metabolic process (GO:0006629)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein transport (GO:0042953)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to osmotic stress (GO:0006970)|response to zinc ion (GO:0010043)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	AU-rich element binding (GO:0017091)|cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.T9T(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGGGGTCACCGGTTGAAGGAC	0.393																																					Pancreas(135;929 1826 4531 10527 41012)												1	Substitution - coding silent(1)	kidney(1)											116.0	112.0	113.0					12																	7807218		2203	4300	6503	SO:0001819	synonymous_variant	339			U72891	CCDS8579.1	12p13.1	2007-02-01			ENSG00000111701	ENSG00000111701		"""Apolipoprotein B mRNA editing enzymes"""	604	protein-coding gene	gene with protein product		600130					Standard	XM_005253355		Approved	BEDP, CDAR1, APOBEC-1, HEPR	uc001qtb.3	P41238	OTTHUMG00000141288	ENST00000229304.4:c.27C>T	12.37:g.7807218G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9UE64|Q9UM71	Silent	SNP	ENST00000229304.4	37	CCDS8579.1																																																																																				0.393	APOBEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280523.1		NM_001644	
LVRN	206338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	115323525	115323525	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr5:115323525C>T	ENST00000357872.4	+	4	1118	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		332						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R332W(1)									CATCTGGGCCCGGAAAGATGC	0.418																																																	1	Substitution - Missense(1)	kidney(1)											139.0	131.0	134.0					5																	115323525		2202	4300	6502	SO:0001583	missense	206338																														ENST00000357872.4:c.994C>T	5.37:g.115323525C>T	ENSP00000350541:p.Arg332Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323835	0.60634	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.03124	4.04	5.14	5.14	0.70334	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.353012	0.24271	N	0.039991	T	0.19208	0.0461	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.00143	-1.1996	10	0.87932	D	0	.	11.6419	0.51237	0.0:0.9131:0.0:0.0869	.	332	Q6Q4G3	AMPQ_HUMAN	W	332;321	ENSP00000350541:R332W	ENSP00000350541:R332W	R	+	1	2	AC010282.1	115351424	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	3.097000	0.50251	2.374000	0.81015	0.563000	0.77884	CGG		0.418	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			
ATP6V1B2	526	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	20077883	20077883	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr8:20077883A>T	ENST00000276390.2	+	14	1546	c.1506A>T	c.(1504-1506)gaA>gaT	p.E502D		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	502					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.E502D(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	CCCTCAGCGAATTTTACCCTC	0.463																																					Pancreas(119;1230 1726 3901 4036 31644)												1	Substitution - Missense(1)	kidney(1)											78.0	76.0	77.0					8																	20077883		2203	4300	6503	SO:0001583	missense	526			L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.1506A>T	8.37:g.20077883A>T	ENSP00000276390:p.Glu502Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.321032	0.60634	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	D	0.83673	-1.75	5.54	-4.04	0.04010	.	0.000000	0.85682	D	0.000000	T	0.80989	0.4730	M	0.78344	2.41	0.58432	D	0.999998	B	0.06786	0.001	B	0.23852	0.049	T	0.69254	-0.5193	10	0.66056	D	0.02	-36.922	14.4119	0.67119	0.4017:0.0:0.5983:0.0	.	502	P21281	VATB2_HUMAN	D	502;376	ENSP00000276390:E502D	ENSP00000276390:E502D	E	+	3	2	ATP6V1B2	20122163	1.000000	0.71417	0.958000	0.39756	0.885000	0.51271	0.897000	0.28390	-0.657000	0.05373	-0.376000	0.06991	GAA		0.463	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1		NM_001693	
HEATR9	256957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34190556	34190556	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr17:34190556G>A	ENST00000311880.2	-	7	723	c.575C>T	c.(574-576)aCt>aTt	p.T192I	C17orf66_ENST00000587585.1_5'Flank|C17orf66_ENST00000592980.1_Missense_Mutation_p.T152I	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		192					hematopoietic progenitor cell differentiation (GO:0002244)			p.T192I(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CTCTGGACCAGTTTGGGCCTA	0.463																																																	1	Substitution - Missense(1)	kidney(1)											139.0	124.0	129.0					17																	34190556		2203	4300	6503	SO:0001583	missense	256957																														ENST00000311880.2:c.575C>T	17.37:g.34190556G>A	ENSP00000309560:p.Thr192Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Missense_Mutation	SNP	ENST00000311880.2	37	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755005	0.31046	.	.	ENSG00000172653	ENST00000311880	T	0.49720	0.77	5.17	-0.697	0.11284	Armadillo-like helical (1);Armadillo-type fold (1);	0.516064	0.18059	N	0.153019	T	0.28167	0.0695	L	0.34521	1.04	0.09310	N	1	P;B;B	0.36909	0.573;0.017;0.437	B;B;B	0.36666	0.23;0.007;0.115	T	0.20042	-1.0287	10	0.72032	D	0.01	.	0.6178	0.00773	0.3005:0.1709:0.3532:0.1754	.	158;152;192	A2RTY3-4;A2RTY3-3;A2RTY3	.;.;CQ066_HUMAN	I	192	ENSP00000309560:T192I	ENSP00000309560:T192I	T	-	2	0	C17orf66	31214669	0.870000	0.30015	0.067000	0.19924	0.853000	0.48598	0.826000	0.27407	0.055000	0.16094	-0.181000	0.13052	ACT		0.463	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			
MIR99AHG	388815	hgsc.bcm.edu	37	21	17566954	17566954	+	lincRNA	SNP	G	G	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr21:17566954G>T	ENST00000458468.1	+	0	409					NR_027790.1																						CTTTTTCATGGTGAGTGCAGA	0.353																																																	0													57.0	63.0	61.0					21																	17566954		2203	4300	6503			0																															21.37:g.17566954G>T		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000458468.1	37																																																																																					0.353	LINC00478-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000158029.1			
C5orf42	65250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	37186442	37186442	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr5:37186442A>C	ENST00000508244.1	-	23	4228	c.4135T>G	c.(4135-4137)Tta>Gta	p.L1379V	C5orf42_ENST00000274258.7_Missense_Mutation_p.L260V|C5orf42_ENST00000425232.2_Missense_Mutation_p.L1379V			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1379						integral component of membrane (GO:0016021)		p.L1379V(1)|p.L260V(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTGTCTCTTAAAGGAACCCTC	0.353																																																	2	Substitution - Missense(2)	kidney(2)											118.0	118.0	118.0					5																	37186442		2203	4300	6503	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4135T>G	5.37:g.37186442A>C	ENSP00000421690:p.Leu1379Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	A	20.5	4.002015	0.74932	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.36878	1.35;1.35;1.23;1.25	5.31	2.87	0.33458	.	0.000000	0.49916	D	0.000139	T	0.20495	0.0493	N	0.14661	0.345	0.29559	N	0.850779	P;P	0.41041	0.736;0.736	B;B	0.42771	0.275;0.397	T	0.06716	-1.0811	10	0.35671	T	0.21	.	4.1977	0.10452	0.5593:0.1682:0.2725:0.0	.	1379;260	E9PH94;Q9H799	.;CE042_HUMAN	V	1379;1379;260;427;260	ENSP00000421690:L1379V;ENSP00000389014:L1379V;ENSP00000274258:L260V;ENSP00000424223:L427V	ENSP00000274258:L260V	L	-	1	2	C5orf42	37222199	0.581000	0.26741	0.988000	0.46212	0.854000	0.48673	0.900000	0.28431	0.391000	0.25143	0.533000	0.62120	TTA		0.353	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1		NM_023073	
CCDC142	84865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	74709054	74709054	+	Missense_Mutation	SNP	T	T	G	rs138040614	byFrequency	TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr2:74709054T>G	ENST00000393965.3	-	1	1307	c.911A>C	c.(910-912)cAa>cCa	p.Q304P	CCDC142_ENST00000471713.1_5'UTR|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.Q304P|TTC31_ENST00000233623.5_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	304								p.Q304P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GGTCCAGTATTGGCTCCACAA	0.662																																																	1	Substitution - Missense(1)	kidney(1)											44.0	49.0	47.0					2																	74709054		2203	4300	6503	SO:0001583	missense	84865			AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.911A>C	2.37:g.74709054T>G	ENSP00000377537:p.Gln304Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37		.	.	.	.	.	.	.	.	.	.	T	21.9	4.222997	0.79464	.	.	ENSG00000135637	ENST00000393965;ENST00000290418	T;T	0.54071	0.59;0.61	4.71	4.71	0.59529	.	0.000000	0.49305	D	0.000153	T	0.62792	0.2457	M	0.72118	2.19	0.36838	D	0.887269	D;D;D	0.58620	0.983;0.983;0.983	P;P;P	0.55303	0.773;0.773;0.773	T	0.71192	-0.4665	10	0.52906	T	0.07	-13.1827	10.7561	0.46237	0.0:0.0:0.0:1.0	.	304;304;304	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	P	304	ENSP00000377537:Q304P;ENSP00000290418:Q304P	ENSP00000290418:Q304P	Q	-	2	0	CCDC142	74562562	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.559000	0.36320	2.109000	0.64355	0.533000	0.62120	CAA		0.662	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1		NM_032779	
CDH12	1010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	21752149	21752149	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr5:21752149T>A	ENST00000382254.1	-	15	3168	c.2082A>T	c.(2080-2082)aaA>aaT	p.K694N	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.K654N|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.K694N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	694					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K694N(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GAGAGTCTGGTTTTATATCCC	0.453										HNSCC(59;0.17)																																							1	Substitution - Missense(1)	kidney(1)											209.0	181.0	190.0					5																	21752149		2203	4300	6503	SO:0001583	missense	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2082A>T	5.37:g.21752149T>A	ENSP00000371689:p.Lys694Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.337157	0.41398	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.77489	-1.1;-1.1;-1.1	5.12	2.71	0.32032	Cadherin, cytoplasmic domain (1);	0.044730	0.85682	D	0.000000	T	0.77857	0.4193	M	0.64997	1.995	0.47065	D	0.999305	P;D	0.56746	0.697;0.977	B;P	0.54060	0.407;0.741	T	0.71659	-0.4526	10	0.19590	T	0.45	.	7.7557	0.28923	0.0:0.2333:0.0:0.7667	.	654;694	B7Z2U6;P55289	.;CAD12_HUMAN	N	694;694;654	ENSP00000423577:K694N;ENSP00000371689:K694N;ENSP00000428786:K654N	ENSP00000371689:K694N	K	-	3	2	CDH12	21787906	0.993000	0.37304	1.000000	0.80357	0.981000	0.71138	0.244000	0.18124	0.299000	0.22661	0.383000	0.25322	AAA		0.453	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1		NM_004061	
CDH24	64403	broad.mit.edu;hgsc.bcm.edu	37	14	23522709	23522709	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr14:23522709T>C	ENST00000267383.5	-	6	1314	c.1222A>G	c.(1222-1224)Atc>Gtc	p.I408V	CDH24_ENST00000554034.1_Missense_Mutation_p.I408V|CDH24_ENST00000487137.2_Missense_Mutation_p.I408V|CDH24_ENST00000397359.3_Missense_Mutation_p.I408V			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	408	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)	p.I408V(2)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		ACCTACCTGATTGGGCTGGCA	0.612																																																	2	Substitution - Missense(2)	kidney(2)											21.0	20.0	20.0					14																	23522709		2200	4286	6486	SO:0001583	missense	64403			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1222A>G	14.37:g.23522709T>C	ENSP00000267383:p.Ile408Val	Somatic		WXS	Illumina HiSeq	Phase_I	D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.318699	0.23994	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	0.068649	0.56097	D	0.000037	T	0.41026	0.1141	N	0.13327	0.33	0.49130	D	0.999755	P;P;P	0.45428	0.663;0.511;0.858	B;B;P	0.47528	0.26;0.401;0.549	T	0.20306	-1.0279	10	0.11182	T	0.66	.	14.5357	0.67958	0.0:0.0:0.0:1.0	.	408;408;408	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	V	408	ENSP00000380517:I408V;ENSP00000434821:I408V;ENSP00000452493:I408V;ENSP00000267383:I408V	ENSP00000267383:I408V	I	-	1	0	CDH24	22592549	0.996000	0.38824	0.934000	0.37439	0.993000	0.82548	2.680000	0.46918	2.263000	0.75096	0.533000	0.62120	ATC		0.612	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2		NM_022478	
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	11845736	11845736	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr17:11845736T>A	ENST00000262442.4	+	67	12845	c.12777T>A	c.(12775-12777)tgT>tgA	p.C4259*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.C4183*|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Nonsense_Mutation_p.C571*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4259					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.C4259*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCAGGAGTGTGGCCGGATGA	0.532																																																	1	Substitution - Nonsense(1)	kidney(1)											114.0	99.0	104.0					17																	11845736		2203	4300	6503	SO:0001587	stop_gained	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.12777T>A	17.37:g.11845736T>A	ENSP00000262442:p.Cys4259*	Somatic		WXS	Illumina HiSeq	Phase_I	A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	52	19.437876	0.99919	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	.	.	.	4.86	0.0135	0.14096	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0217	0.42046	0.0:0.4045:0.0:0.5955	.	.	.	.	X	4259;4183;2765;571	.	ENSP00000262442:C4259X	C	+	3	2	DNAH9	11786461	0.984000	0.35163	0.440000	0.26846	0.162000	0.22319	0.145000	0.16157	-0.188000	0.10499	-0.464000	0.05259	TGT		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2		NM_001372	
ELF2	1998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	139983076	139983076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr4:139983076C>T	ENST00000394235.2	-	8	1215	c.713G>A	c.(712-714)tGg>tAg	p.W238*	ELF2_ENST00000379549.2_Nonsense_Mutation_p.W161*|ELF2_ENST00000515489.1_5'Flank|ELF2_ENST00000265495.4_Nonsense_Mutation_p.W238*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.W190*|ELF2_ENST00000379550.1_Nonsense_Mutation_p.W250*|ELF2_ENST00000510408.1_Nonsense_Mutation_p.W178*	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)									p.W238*(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					ATGCTTTCCCCAAAGCTTAGA	0.363																																																	1	Substitution - Nonsense(1)	kidney(1)											111.0	100.0	103.0					4																	139983076		2203	4300	6503	SO:0001587	stop_gained	1998			AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.713G>A	4.37:g.139983076C>T	ENSP00000377782:p.Trp238*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000394235.2	37	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222042	0.79464	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000540754;ENST00000510408;ENST00000420916;ENST00000512627	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.661	0.95871	0.0:1.0:0.0:0.0	.	.	.	.	X	190;238;250;238;161;53;178;161;149	.	.	W	-	2	0	ELF2	140202526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.659000	0.90383	0.655000	0.94253	TGG		0.363	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2		NM_006874	
EPHA8	2046	broad.mit.edu;hgsc.bcm.edu	37	1	22920118	22920118	+	Silent	SNP	C	C	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr1:22920118C>G	ENST00000166244.3	+	7	1614	c.1542C>G	c.(1540-1542)gcC>gcG	p.A514A		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	514	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.A514A(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGTCCGAGCCCGCACCTCAG	0.687																																																	1	Substitution - coding silent(1)	kidney(1)											21.0	23.0	23.0					1																	22920118		2192	4298	6490	SO:0001819	synonymous_variant	2046			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1542C>G	1.37:g.22920118C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	CCDS225.1																																																																																				0.687	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1		NM_020526	
ESPL1	9700	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53673565	53673565	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr12:53673565G>T	ENST00000257934.4	+	12	2505	c.2414G>T	c.(2413-2415)aGa>aTa	p.R805I	ESPL1_ENST00000552462.1_Missense_Mutation_p.R805I	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	805					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.R805I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTCTCTGAGAGACTGAAGGAC	0.597																																					Colon(53;1069 1201 2587 5382)												1	Substitution - Missense(1)	kidney(1)											107.0	101.0	103.0					12																	53673565		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2414G>T	12.37:g.53673565G>T	ENSP00000257934:p.Arg805Ile	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000257934.4	37	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	5.040	0.193037	0.09599	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12147	2.71;2.71	5.08	-0.237	0.13061	.	0.847402	0.11071	N	0.602905	T	0.11623	0.0283	M	0.68317	2.08	0.09310	N	1	P;B	0.37276	0.589;0.026	B;B	0.30943	0.122;0.009	T	0.18903	-1.0322	10	0.37606	T	0.19	.	4.7046	0.12844	0.3684:0.326:0.3056:0.0	.	16;805	B4DRU1;Q14674	.;ESPL1_HUMAN	I	805;480;805	ENSP00000257934:R805I;ENSP00000449831:R805I	ENSP00000257934:R805I	R	+	2	0	ESPL1	51959832	0.529000	0.26322	0.051000	0.19133	0.049000	0.14656	0.466000	0.22019	0.049000	0.15920	-0.262000	0.10625	AGA		0.597	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2		NM_012291	
FAM168A	23201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	73130927	73130927	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr11:73130927G>A	ENST00000064778.4	-	5	580	c.296C>T	c.(295-297)gCg>gTg	p.A99V	FAM168A_ENST00000450446.2_Missense_Mutation_p.A90V|FAM168A_ENST00000356467.4_Missense_Mutation_p.A90V			Q92567	F168A_HUMAN	family with sequence similarity 168, member A	99								p.A90V(1)		endometrium(3)|kidney(1)|lung(1)	5						ACTGAAAGCCGCAGAGGATGC	0.502																																																	1	Substitution - Missense(1)	kidney(1)											105.0	108.0	107.0					11																	73130927		1928	4119	6047	SO:0001583	missense	23201			BC014932	CCDS41689.1, CCDS66165.1, CCDS73346.1	11q13.4	2008-06-11	2008-06-11	2008-06-11		ENSG00000054965			28999	protein-coding gene	gene with protein product	"""tongue cancer chemotherapy resistance-associated protein 1"""		"""KIAA0280"""	KIAA0280			Standard	XM_005273852		Approved	TCRP1	uc001oty.1	Q92567		ENST00000064778.4:c.296C>T	11.37:g.73130927G>A	ENSP00000064778:p.Ala99Val	Somatic		WXS	Illumina HiSeq	Phase_I	A2ICY2|A2ID81|Q86UG2	Missense_Mutation	SNP	ENST00000064778.4	37		.	.	.	.	.	.	.	.	.	.	G	21.3	4.132050	0.77662	.	.	ENSG00000054965	ENST00000064778;ENST00000450446;ENST00000356467	.	.	.	5.45	5.45	0.79879	.	0.239064	0.41938	D	0.000798	T	0.41442	0.1159	L	0.29908	0.895	0.52099	D	0.999943	P;B;B	0.51653	0.947;0.21;0.13	B;B;B	0.38225	0.268;0.064;0.064	T	0.32719	-0.9896	9	0.33141	T	0.24	.	18.6344	0.91371	0.0:0.0:1.0:0.0	.	90;99;90	Q92567-3;Q92567;Q92567-2	.;F168A_HUMAN;.	V	99;90;90	.	ENSP00000064778:A99V	A	-	2	0	FAM168A	72808575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.812000	0.86109	2.716000	0.92895	0.655000	0.94253	GCG		0.502	FAM168A-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000397424.1		NM_015159	
HIST1H2BC	8347	hgsc.bcm.edu	37	6	26124127	26124127	+	Silent	SNP	A	A	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr6:26124127A>G	ENST00000314332.5	-	1	11	c.6T>C	c.(4-6)ccT>ccC	p.P2P	HIST1H2BC_ENST00000396984.1_Silent_p.P2P|HIST1H2AC_ENST00000377791.2_5'Flank|HIST1H2AC_ENST00000602637.1_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	2					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P2P(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						TGGCTGGCTCAGGCATCTTAA	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											72.0	73.0	73.0					6																	26124127		2203	4300	6503	SO:0001819	synonymous_variant	8347			Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"""Histones / Replication-dependent"""	4757	protein-coding gene	gene with protein product		602847	"""H2B histone family, member L"", ""histone 1, H2bc"""	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.6T>C	6.37:g.26124127A>G		Somatic		WXS	Illumina HiSeq	Phase_I	P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000314332.5	37	CCDS4584.1																																																																																				0.502	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1		NM_003526	
HMG20A	10363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	77763256	77763256	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr15:77763256A>G	ENST00000381714.3	+	6	883	c.455A>G	c.(454-456)tAc>tGc	p.Y152C	HMG20A_ENST00000336216.4_Missense_Mutation_p.Y152C	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	152					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y152C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TCCTAGCGCTACCTTGATGAA	0.358																																																	1	Substitution - Missense(1)	kidney(1)											60.0	56.0	57.0					15																	77763256		2196	4294	6490	SO:0001583	missense	10363			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.455A>G	15.37:g.77763256A>G	ENSP00000371133:p.Tyr152Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	37	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.248571	0.80024	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	D;D	0.99388	-5.81;-5.81	5.88	5.88	0.94601	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97978	1.0347	10	0.66056	D	0.02	-21.4581	16.2792	0.82664	1.0:0.0:0.0:0.0	.	152	Q9NP66	HM20A_HUMAN	C	152	ENSP00000336856:Y152C;ENSP00000371133:Y152C	ENSP00000336856:Y152C	Y	+	2	0	HMG20A	75550311	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	8.962000	0.93254	2.243000	0.73865	0.533000	0.62120	TAC		0.358	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2		NM_018200	
KCNH4	23415	broad.mit.edu;ucsc.edu	37	17	40330118	40330118	+	Splice_Site	SNP	A	A	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr17:40330118A>G	ENST00000264661.3	-	4	917	c.585T>C	c.(583-585)aaT>aaC	p.N195N	KCNH4_ENST00000607371.1_Splice_Site_p.N195N	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	195					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.N195N(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGGACTCACATTATTGGCCT	0.607																																					NSCLC(117;707 1703 2300 21308 31858)												1	Substitution - coding silent(1)	kidney(1)											83.0	92.0	89.0					17																	40330118		2203	4300	6503	SO:0001630	splice_region_variant	23415			AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.585+1T>C	17.37:g.40330118A>G		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000264661.3	37	CCDS11420.1																																																																																				0.607	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2		NM_012285	Silent
MARCH8	220972	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	45959707	45959707	+	Silent	SNP	T	T	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr10:45959707T>A	ENST00000319836.3	-	4	971	c.222A>T	c.(220-222)ccA>ccT	p.P74P	MARCH8_ENST00000395771.3_Silent_p.P74P|MARCH8_ENST00000476962.1_5'Flank|MARCH8_ENST00000453424.2_Silent_p.P74P|MARCH8_ENST00000395769.2_Silent_p.P74P	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	74					immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P74P(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						CCTGGCTGGATGGCGTGATAG	0.532																																					NSCLC(102;658 1594 2173 16344 34808)												1	Substitution - coding silent(1)	kidney(1)											148.0	126.0	134.0					10																	45959707		2203	4300	6503	SO:0001819	synonymous_variant	220972			AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.222A>T	10.37:g.45959707T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Silent	SNP	ENST00000319836.3	37	CCDS7213.1																																																																																				0.532	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051217.1		NM_145021	
MMP9	4318	hgsc.bcm.edu;ucsc.edu	37	20	44641977	44641977	+	Frame_Shift_Del	DEL	C	C	-	rs148151404	byFrequency	TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr20:44641977delC	ENST00000372330.3	+	9	1433	c.1414delC	c.(1414-1416)cccfs	p.P473fs	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	473					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	CCCCACCGGACCCCCCACTGT	0.706											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													32.0	44.0	40.0					20																	44641977		2191	4282	6473	SO:0001589	frameshift_variant	4318				CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1414delC	20.37:g.44641977delC	ENSP00000361405:p.Pro473fs	Somatic	925	WXS	Illumina HiSeq	Phase_I	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Frame_Shift_Del	DEL	ENST00000372330.3	37	CCDS13390.1																																																																																				0.706	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1			
MYH2	4620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10432798	10432798	+	Splice_Site	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr17:10432798G>A	ENST00000245503.5	-	25	3502	c.3118C>T	c.(3118-3120)Ctt>Ttt	p.L1040F	RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Splice_Site_p.L1040F|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1040					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L1040F(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GACCCTTCAAGCTAAATATAA	0.388																																																	1	Substitution - Missense(1)	kidney(1)											123.0	118.0	120.0					17																	10432798		2203	4300	6503	SO:0001630	splice_region_variant	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3118-1C>T	17.37:g.10432798G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744764	0.69418	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.96041	-3.89;-3.89	5.24	5.24	0.73138	.	0.000000	0.34959	U	0.003558	D	0.98648	0.9547	H	0.96748	3.875	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	D	0.99474	1.0946	10	0.87932	D	0	.	19.0151	0.92890	0.0:0.0:1.0:0.0	.	1040	Q9UKX2	MYH2_HUMAN	F	1040	ENSP00000245503:L1040F;ENSP00000380367:L1040F	ENSP00000245503:L1040F	L	-	1	0	MYH2	10373523	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.478000	0.81082	2.718000	0.92993	0.591000	0.81541	CTT		0.388	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3		NM_017534	Missense_Mutation
NRCAM	4897	hgsc.bcm.edu;ucsc.edu	37	7	107834765	107834766	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr7:107834765_107834766insTA	ENST00000425651.2	-	13	1569_1570	c.1570_1571insTA	c.(1570-1572)acgfs	p.T524fs	NRCAM_ENST00000379024.4_Frame_Shift_Ins_p.T505fs|NRCAM_ENST00000351718.4_Frame_Shift_Ins_p.T518fs|NRCAM_ENST00000413765.2_Frame_Shift_Ins_p.T505fs|NRCAM_ENST00000379028.3_Frame_Shift_Ins_p.T524fs|NRCAM_ENST00000379022.4_Frame_Shift_Ins_p.T524fs	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	524	Ig-like 5.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.T518R(1)|p.T524R(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TGCAACACACGTATAAGTTCCT	0.356																																																	2	Substitution - Missense(2)	lung(2)																																								SO:0001589	frameshift_variant	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1569_1570dupTA	7.37:g.107834768_107834769dupTA	ENSP00000401244:p.Thr524fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Frame_Shift_Ins	INS	ENST00000425651.2	37	CCDS47686.1																																																																																				0.356	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2		NM_001037132	
OPLAH	26873	hgsc.bcm.edu	37	8	145106939	145106940	+	Splice_Site	DEL	CC	CC	-	rs60949781		TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr8:145106939_145106940delCC	ENST00000426825.1	-	26	3580_3581	c.3499_3500delGG	c.(3499-3501)ggc>c	p.G1167fs	CTD-3065J16.6_ENST00000528912.1_RNA|OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000561181.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	1167					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCCCCGAGCCCCCCGCCGCA	0.748														5008	1.0	1.0	1.0	5008	,	,		7120	1.0		1.0	False		,,,				2504	1.0																0										2721,11		1360,1,5						3.7	0.9		dbSNP_130	11	6356,8		3177,2,3	no	frameshift	OPLAH	NM_017570.3		4537,3,8	A1A1,A1R,RR		0.1257,0.4026,0.2089				9077,19				SO:0001630	splice_region_variant	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.3499-1GG>-	8.37:g.145106943_145106944delCC		Somatic		WXS	Illumina HiSeq	Phase_I	A5PKY8|Q75W65|Q9Y4Q0	Frame_Shift_Del	DEL	ENST00000426825.1	37																																																																																					0.748	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_017570	Frame_Shift_Del
ORC5	5001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	103777250	103777250	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr7:103777250C>G	ENST00000297431.4	-	13	1382	c.1240G>C	c.(1240-1242)Gac>Cac	p.D414H	ORC5_ENST00000545943.1_Missense_Mutation_p.D282H	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	414					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.D414H(1)		kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTGATGAAGTCTAGAGACACT	0.358																																																	1	Substitution - Missense(1)	kidney(1)											111.0	105.0	107.0					7																	103777250		2203	4300	6503	SO:0001583	missense	5001				CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.1240G>C	7.37:g.103777250C>G	ENSP00000297431:p.Asp414His	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0P8|O60590|O95268	Missense_Mutation	SNP	ENST00000297431.4	37	CCDS5734.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738136	0.89573	.	.	ENSG00000164815	ENST00000297431;ENST00000545943	T;T	0.52295	1.69;0.67	5.65	5.65	0.86999	.	0.043274	0.85682	D	0.000000	T	0.70245	0.3202	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.72104	-0.4391	10	0.87932	D	0	.	20.073	0.97731	0.0:1.0:0.0:0.0	.	414	O43913	ORC5_HUMAN	H	414;282	ENSP00000297431:D414H;ENSP00000438018:D282H	ENSP00000297431:D414H	D	-	1	0	ORC5	103564486	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	7.015000	0.76387	2.811000	0.96726	0.655000	0.94253	GAC		0.358	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1		NM_002553	
OTUD4	54726	hgsc.bcm.edu	37	4	146063397	146063398	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr4:146063397_146063398insG	ENST00000447906.2	-	18	1959_1960	c.1772_1773insC	c.(1771-1773)ccafs	p.P591fs	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000454497.2_Frame_Shift_Ins_p.P526fs			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	591					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GCACAGTGGCTGGTAAAGAAGG	0.47																																																	0																																										SO:0001589	frameshift_variant	54726				CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.1773dupC	4.37:g.146063399_146063399dupG	ENSP00000395487:p.Pro591fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Frame_Shift_Ins	INS	ENST00000447906.2	37																																																																																					0.470	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2		NM_017493	
PAX9	5083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	37132609	37132609	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr14:37132609C>T	ENST00000361487.6	+	2	737	c.512C>T	c.(511-513)gCc>gTc	p.A171V	PAX9_ENST00000402703.2_Missense_Mutation_p.A171V|PAX9_ENST00000554201.1_5'UTR			P55771	PAX9_HUMAN	paired box 9	171	Interaction with KDM5B.				cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.A171V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GCGGCGGCCGCCAAGGTGCCC	0.682																																																	1	Substitution - Missense(1)	kidney(1)											26.0	27.0	26.0					14																	37132609		2196	4294	6490	SO:0001583	missense	5083			AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.512C>T	14.37:g.37132609C>T	ENSP00000355245:p.Ala171Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q99582|Q9UQR4	Missense_Mutation	SNP	ENST00000361487.6	37	CCDS9662.1	.	.	.	.	.	.	.	.	.	.	C	32	5.177471	0.94846	.	.	ENSG00000198807	ENST00000402703;ENST00000361487	D;D	0.98901	-5.22;-5.22	5.25	5.25	0.73442	.	0.051502	0.85682	D	0.000000	D	0.97179	0.9078	L	0.56769	1.78	0.58432	D	0.999995	P	0.35077	0.483	B	0.27887	0.084	D	0.97214	0.9873	10	0.51188	T	0.08	.	18.8295	0.92132	0.0:1.0:0.0:0.0	.	171	P55771	PAX9_HUMAN	V	171	ENSP00000384817:A171V;ENSP00000355245:A171V	ENSP00000355245:A171V	A	+	2	0	PAX9	36202360	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	6.065000	0.71176	2.445000	0.82738	0.561000	0.74099	GCC		0.682	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			
PDE3B	5140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	14852297	14852297	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr11:14852297C>A	ENST00000282096.4	+	8	2214	c.1861C>A	c.(1861-1863)Caa>Aaa	p.Q621K	PDE3B_ENST00000455098.2_Missense_Mutation_p.Q570K	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	621					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)	p.Q621K(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	GGAAACTCAACAAGAAGAGGA	0.328																																																	1	Substitution - Missense(1)	kidney(1)											88.0	92.0	90.0					11																	14852297		2200	4294	6494	SO:0001583	missense	5140			U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1861C>A	11.37:g.14852297C>A	ENSP00000282096:p.Gln621Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623204	0.28889	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.60920	0.15;0.15	4.34	4.34	0.51931	.	.	.	.	.	T	0.40570	0.1122	N	0.22421	0.69	0.20074	N	0.999938	B;B	0.12013	0.001;0.005	B;B	0.08055	0.001;0.003	T	0.09530	-1.0670	9	0.06365	T	0.9	.	14.3533	0.66719	0.0:1.0:0.0:0.0	.	570;621	B7ZM37;Q13370	.;PDE3B_HUMAN	K	621;570	ENSP00000282096:Q621K;ENSP00000388644:Q570K	ENSP00000282096:Q621K	Q	+	1	0	PDE3B	14808873	0.853000	0.29707	0.830000	0.32933	0.856000	0.48823	1.506000	0.35747	2.124000	0.65301	0.591000	0.81541	CAA		0.328	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1		NM_000922	
PLEKHG5	57449	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	6532596	6532596	+	Silent	SNP	C	C	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr1:6532596C>G	ENST00000400915.3	-	11	1305	c.1239G>C	c.(1237-1239)gtG>gtC	p.V413V	PLEKHG5_ENST00000377725.1_Silent_p.V357V|PLEKHG5_ENST00000400913.1_Silent_p.V357V|PLEKHG5_ENST00000340850.5_Silent_p.V357V|PLEKHG5_ENST00000377728.3_Silent_p.V357V|PLEKHG5_ENST00000544978.1_Silent_p.V357V|PLEKHG5_ENST00000377740.3_Silent_p.V434V|PLEKHG5_ENST00000537245.1_Silent_p.V436V|PLEKHG5_ENST00000535355.1_Silent_p.V426V|PLEKHG5_ENST00000377737.2_Silent_p.V357V|PLEKHG5_ENST00000377732.1_Silent_p.V394V|PLEKHG5_ENST00000377748.1_Silent_p.V434V	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	413	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.V434V(1)		liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CGTTGATGATCACCCGCAGTT	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											54.0	47.0	49.0					1																	6532596		2203	4300	6503	SO:0001819	synonymous_variant	57449			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1239G>C	1.37:g.6532596C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	ENST00000400915.3	37	CCDS41241.1																																																																																				0.642	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1		NM_020631	
PNP	4860	broad.mit.edu;hgsc.bcm.edu	37	14	20940624	20940624	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr14:20940624C>T	ENST00000361505.5	+	2	315	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	RP11-203M5.8_ENST00000554678.1_lincRNA	NM_000270.3	NP_000261.2	P01298	PAHO_HUMAN	purine nucleoside phosphorylase	0					digestion (GO:0007586)|protein secretion (GO:0009306)	extracellular region (GO:0005576)	hormone activity (GO:0005179)|receptor binding (GO:0005102)	p.P57S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10						CCCCAACTTTCCCCGAAGTAC	0.478																																																	1	Substitution - Missense(1)	kidney(1)											64.0	57.0	60.0					14																	20940624		2203	4300	6503	SO:0001583	missense	4860				CCDS9552.1	14q11.2	2014-09-17	2009-12-02	2009-12-02	ENSG00000198805	ENSG00000198805	2.4.2.1		7892	protein-coding gene	gene with protein product		164050	"""nucleoside phosphorylase"""	NP		6087295	Standard	NM_000270		Approved	PUNP	uc001vxo.4	P00491	OTTHUMG00000029546	ENST00000361505.5:c.169C>T	14.37:g.20940624C>T	ENSP00000354532:p.Pro57Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000361505.5	37	CCDS9552.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257101	0.80246	.	.	ENSG00000198805	ENST00000553418;ENST00000361505;ENST00000553591	T;D;D	0.86627	-1.25;-2.15;-2.15	5.54	4.66	0.58398	Nucleoside phosphorylase domain (1);	0.099394	0.64402	N	0.000001	D	0.92358	0.7575	M	0.71871	2.18	0.80722	D	1	D;D;D	0.89917	0.998;0.994;1.0	D;D;D	0.97110	0.984;0.909;1.0	D	0.92966	0.6393	10	0.66056	D	0.02	-10.9765	13.5986	0.62004	0.0:0.9245:0.0:0.0755	.	57;57;57	Q8N7G1;G3V2H3;P00491	.;.;PNPH_HUMAN	S	57;57;96	ENSP00000450663:P57S;ENSP00000354532:P57S;ENSP00000452421:P96S	ENSP00000354532:P57S	P	+	1	0	PNP	20010464	1.000000	0.71417	0.993000	0.49108	0.798000	0.45092	4.393000	0.59665	1.577000	0.49804	0.655000	0.94253	CCC		0.478	PNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073646.2		NM_000270.2	
PRDM5	11107	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	121828700	121828700	+	Missense_Mutation	SNP	C	C	T	rs374583073		TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr4:121828700C>T	ENST00000264808.3	-	2	346	c.106G>A	c.(106-108)Gga>Aga	p.G36R	PRDM5_ENST00000428209.2_Missense_Mutation_p.G36R|PRDM5_ENST00000515109.1_Missense_Mutation_p.G36R|PRDM5_ENST00000394435.2_Missense_Mutation_p.G36R	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	36	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.G36R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCAAAGGGTCCGAACTTTTCA	0.343																																																	1	Substitution - Missense(1)	kidney(1)						C	ARG/GLY	0,4406		0,0,2203	126.0	124.0	125.0		106	5.8	1.0	4		125	1,8599	1.2+/-3.3	0,1,4299	no	missense	PRDM5	NM_018699.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	36/631	121828700	1,13005	2203	4300	6503	SO:0001583	missense	11107			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.106G>A	4.37:g.121828700C>T	ENSP00000264808:p.Gly36Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579117	0.86645	0.0	1.16E-4	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.81	5.81	0.92471	SET domain (2);	0.000000	0.85682	D	0.000000	D	0.94778	0.8314	M	0.89095	3.005	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	D	0.95126	0.8251	10	0.87932	D	0	-16.7052	18.8497	0.92222	0.0:1.0:0.0:0.0	.	36;36;36;36	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	R	36	ENSP00000264808:G36R;ENSP00000422309:G36R;ENSP00000404832:G36R;ENSP00000377955:G36R	ENSP00000264808:G36R	G	-	1	0	PRDM5	122048150	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.734000	0.68580	2.746000	0.94184	0.655000	0.94253	GGA		0.343	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			
PROX1	5629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	214171381	214171381	+	Silent	SNP	C	C	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr1:214171381C>T	ENST00000366958.4	+	2	2111	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	PROX1_ENST00000498508.2_Silent_p.S501S|PROX1_ENST00000261454.4_Silent_p.S501S|PROX1_ENST00000435016.1_Silent_p.S501S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	501					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.S501S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTGCTCCCTCCGGCTCCTTCT	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											75.0	83.0	80.0					1																	214171381		2203	4300	6503	SO:0001819	synonymous_variant	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1503C>T	1.37:g.214171381C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	CCDS31021.1																																																																																				0.562	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6		NM_002763	
RFX7	64864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	56395867	56395867	+	Splice_Site	SNP	T	T	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr15:56395867T>A	ENST00000559447.2	-	5	383	c.112A>T	c.(112-114)Agc>Tgc	p.S38C	RFX7_ENST00000423270.1_Splice_Site_p.S135C|RFX7_ENST00000422057.1_Splice_Site_p.S38C|RFX7_ENST00000317318.6_Splice_Site_p.S135C			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	38					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S135C(1)|p.S38C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCACAATAGCTCCTGCAAAAG	0.398																																																	2	Substitution - Missense(2)	kidney(2)											61.0	56.0	58.0					15																	56395867		1869	4097	5966	SO:0001630	splice_region_variant	64864					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.111-1A>T	15.37:g.56395867T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37		.	.	.	.	.	.	.	.	.	.	T	21.9	4.221498	0.79464	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	D;D;D	0.83755	-1.76;-1.76;-1.76	5.35	5.35	0.76521	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.88171	0.6365	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89341	0.3654	10	0.87932	D	0	-12.1815	14.8176	0.70048	0.0:0.0:0.0:1.0	.	38	Q2KHR2	RFX7_HUMAN	C	38;135;135	ENSP00000387504:S38C;ENSP00000313299:S135C;ENSP00000397644:S135C	ENSP00000313299:S135C	S	-	1	0	RFX7	54183159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.249000	0.72427	2.150000	0.67090	0.455000	0.32223	AGC		0.398	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3		NM_022841	Missense_Mutation
RNF213	57674	hgsc.bcm.edu;ucsc.edu	37	17	78343583	78343584	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr17:78343583_78343584insA	ENST00000582970.1	+	46	12484_12485	c.12341_12342insA	c.(12340-12345)acaaaafs	p.TK4114fs	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Frame_Shift_Ins_p.TK2187fs|RNF213_ENST00000508628.2_Frame_Shift_Ins_p.TK4163fs|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4114					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGTGAACACACAAAATCTCTCT	0.431																																																	0																																										SO:0001589	frameshift_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12345dupA	17.37:g.78343587_78343587dupA	ENSP00000464087:p.Thr4114fs	Somatic		WXS	Illumina HiSeq	Phase_I	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Frame_Shift_Ins	INS	ENST00000582970.1	37	CCDS58606.1																																																																																				0.431	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1		NM_020914	
SECISBP2	79048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	91972394	91972394	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr9:91972394G>A	ENST00000375807.3	+	15	2253	c.2182G>A	c.(2182-2184)Gct>Act	p.A728T	SECISBP2_ENST00000534113.2_Missense_Mutation_p.A660T|SECISBP2_ENST00000339901.4_Missense_Mutation_p.A655T	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	728					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)	p.A728T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CTTTGTGTTTGCTCTCAACCG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											254.0	233.0	240.0					9																	91972394		2203	4300	6503	SO:0001583	missense	79048			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2182G>A	9.37:g.91972394G>A	ENSP00000364965:p.Ala728Thr	Somatic		WXS	Illumina HiSeq	Phase_I	F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	35	5.499462	0.96355	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.58210	0.35;0.35;0.35	4.53	4.53	0.55603	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	T	0.75953	0.3920	M	0.84948	2.725	0.53688	D	0.99997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.80806	-0.1218	10	0.72032	D	0.01	-16.4737	17.7957	0.88570	0.0:0.0:1.0:0.0	.	735;655;728	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	T	728;734;655;660	ENSP00000364965:A728T;ENSP00000364959:A655T;ENSP00000436650:A660T	ENSP00000364959:A655T	A	+	1	0	SECISBP2	91162214	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	9.652000	0.98499	2.506000	0.84524	0.555000	0.69702	GCT		0.498	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3		NM_024077	
SEZ6L	23544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	26693016	26693016	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr22:26693016G>A	ENST00000248933.6	+	4	1227	c.1132G>A	c.(1132-1134)Ggc>Agc	p.G378S	SEZ6L_ENST00000360929.3_Missense_Mutation_p.G378S|SEZ6L_ENST00000529632.2_Missense_Mutation_p.G378S|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G378S|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G378S|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G151S|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G151S			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	378	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.G378S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCAGGACGACGGCCTTGGGAC	0.567																																																	1	Substitution - Missense(1)	kidney(1)											45.0	40.0	41.0					22																	26693016		2203	4300	6503	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1132G>A	22.37:g.26693016G>A	ENSP00000248933:p.Gly378Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843145	0.32606	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39;2.39	5.13	3.0	0.34707	CUB (5);	0.777699	0.10770	N	0.636175	T	0.16685	0.0401	L	0.50333	1.59	0.28140	N	0.929839	P;B;B;B;P;B;B	0.47962	0.903;0.226;0.118;0.372;0.746;0.226;0.141	B;B;B;B;B;B;B	0.40038	0.317;0.076;0.034;0.046;0.156;0.076;0.076	T	0.09292	-1.0681	10	0.28530	T	0.3	.	10.7178	0.46023	0.1573:0.0:0.8427:0.0	.	378;378;151;378;378;378;378	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	S	378;378;378;378;378;151;151	ENSP00000384772:G378S;ENSP00000437037:G378S;ENSP00000354185:G378S;ENSP00000248933:G378S;ENSP00000342661:G378S;ENSP00000384838:G151S;ENSP00000384733:G151S	ENSP00000248933:G378S	G	+	1	0	SEZ6L	25023016	0.961000	0.32948	0.004000	0.12327	0.986000	0.74619	4.113000	0.57851	0.533000	0.28675	0.561000	0.74099	GGC		0.567	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			
SIRT4	23409	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	120741603	120741603	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr12:120741603G>T	ENST00000202967.4	+	2	298	c.239G>T	c.(238-240)gGg>gTg	p.G80V		NM_012240.2	NP_036372.1			sirtuin 4									p.G80V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAAAAAGTGGGGCTTTATGCC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											63.0	60.0	61.0					12																	120741603		2203	4300	6503	SO:0001583	missense	23409			AF083109	CCDS9194.1	12q24.31	2010-06-25	2010-06-25		ENSG00000089163	ENSG00000089163			14932	protein-coding gene	gene with protein product		604482	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 4"", ""sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)"""			10381378	Standard	NM_012240		Approved	SIR2L4	uc001tyc.3	Q9Y6E7	OTTHUMG00000169028	ENST00000202967.4:c.239G>T	12.37:g.120741603G>T	ENSP00000202967:p.Gly80Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000202967.4	37	CCDS9194.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647860	0.87958	.	.	ENSG00000089163	ENST00000536460;ENST00000202967	T;T	0.57907	0.37;0.37	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.85750	0.5769	H	0.99507	4.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91878	0.5513	10	0.87932	D	0	-17.8642	19.5949	0.95533	0.0:0.0:1.0:0.0	.	80	Q9Y6E7	SIRT4_HUMAN	V	21;80	ENSP00000444838:G21V;ENSP00000202967:G80V	ENSP00000202967:G80V	G	+	2	0	SIRT4	119225986	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	9.540000	0.98080	2.709000	0.92574	0.644000	0.83932	GGG		0.562	SIRT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402003.1		NM_012240	
SLC22A6	9356	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	62744739	62744739	+	Silent	SNP	A	A	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr11:62744739A>G	ENST00000377871.3	-	9	1748	c.1482T>C	c.(1480-1482)ccT>ccC	p.P494P	SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000421062.2_Intron|SLC22A6_ENST00000360421.4_Silent_p.P494P	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	494					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.P494P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TGGCGGCCACAGGAACAGCAC	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											82.0	75.0	77.0					11																	62744739		2201	4298	6499	SO:0001819	synonymous_variant	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1482T>C	11.37:g.62744739A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	ENST00000377871.3	37	CCDS31591.1																																																																																				0.652	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1		NM_004790	
SYNJ1	8867	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	34099147	34099147	+	Silent	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr21:34099147G>A	ENST00000322229.7	-	1	59	c.60C>T	c.(58-60)ctC>ctT	p.L20L	SYNJ1_ENST00000357345.3_Silent_p.L20L|SYNJ1_ENST00000382499.2_Silent_p.L59L|PAXBP1-AS1_ENST00000458479.1_RNA|SYNJ1_ENST00000382491.3_Silent_p.L20L|SYNJ1_ENST00000433931.2_Silent_p.L59L|PAXBP1-AS1_ENST00000440052.1_RNA			O43426	SYNJ1_HUMAN	synaptojanin 1	20					cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.L20L(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TTTCCACTATGAGGCTGAAAG	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											148.0	128.0	135.0					21																	34099147		2203	4300	6503	SO:0001819	synonymous_variant	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.60C>T	21.37:g.34099147G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	CCDS54484.1																																																																																				0.483	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				
TPSD1	23430	hgsc.bcm.edu	37	16	1306971	1306971	+	Missense_Mutation	SNP	A	A	G	rs72775466		TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr16:1306971A>G	ENST00000211076.3	+	3	576	c.428A>G	c.(427-429)cAc>cGc	p.H143R	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Missense_Mutation_p.H136R	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	143	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				ATCTCCAGCCACATCCACACG	0.647																																																	0													49.0	47.0	47.0					16																	1306971		2198	4299	6497	SO:0001583	missense	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.428A>G	16.37:g.1306971A>G	ENSP00000211076:p.His143Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	CCDS10432.1	.	.	.	.	.	.	.	.	.	.	a	0.006	-2.041578	0.00402	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	T;T	0.81330	-1.48;-1.48	2.55	1.26	0.21427	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.828860	0.02995	N	0.147379	T	0.68035	0.2957	N	0.20304	0.555	0.80722	P	0.0	B;B	0.10296	0.003;0.003	B;B	0.14578	0.011;0.011	T	0.55823	-0.8080	9	0.30078	T	0.28	.	5.9116	0.19031	0.767:0.0:0.0:0.233	.	127;143	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	R	136;143	ENSP00000380668:H136R;ENSP00000211076:H143R	ENSP00000211076:H143R	H	+	2	0	TPSD1	1246972	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	-0.594000	0.05733	1.156000	0.42514	0.155000	0.16302	CAC		0.647	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			
TPSD1	23430	hgsc.bcm.edu	37	16	1306973	1306973	+	Missense_Mutation	SNP	A	A	G	rs79313952		TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr16:1306973A>G	ENST00000211076.3	+	3	578	c.430A>G	c.(430-432)Atc>Gtc	p.I144V	RP11-616M22.5_ENST00000566997.1_RNA|TPSD1_ENST00000397534.2_Missense_Mutation_p.I137V	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	144	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CTCCAGCCACATCCACACGGT	0.642																																																	0													49.0	47.0	47.0					16																	1306973		2198	4299	6497	SO:0001583	missense	23430			AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.430A>G	16.37:g.1306973A>G	ENSP00000211076:p.Ile144Val	Somatic		WXS	Illumina HiSeq	Phase_I	O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Missense_Mutation	SNP	ENST00000211076.3	37	CCDS10432.1	761	0.3484432234432234	140	0.2845528455284553	110	0.30386740331491713	250	0.4370629370629371	261	0.34432717678100266	a	0.001	-2.882799	0.00061	.	.	ENSG00000095917	ENST00000397534;ENST00000211076	D;D	0.85702	-2.02;-2.02	2.55	-5.1	0.02911	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.756136	0.11242	N	0.584558	T	0.00012	0.0000	N	0.04043	-0.29	0.80722	P	0.0	B;B	0.06786	0.0;0.001	B;B	0.13407	0.009;0.009	T	0.23404	-1.0189	9	0.02654	T	1	.	0.0994	0.00046	0.3174:0.1569:0.211:0.3148	.	128;144	C9JJL5;Q9BZJ3	.;TRYD_HUMAN	V	137;144	ENSP00000380668:I137V;ENSP00000211076:I144V	ENSP00000211076:I144V	I	+	1	0	TPSD1	1246974	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	-1.101000	0.03336	-1.132000	0.02907	-1.639000	0.00775	ATC		0.642	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2			
TSKS	60385	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50266419	50266419	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr19:50266419G>A	ENST00000246801.3	-	1	168	c.86C>T	c.(85-87)tCc>tTc	p.S29F	RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	29					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.S29F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GACTAGCTGGGAGCAGCTCTC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											66.0	71.0	69.0					19																	50266419		2203	4300	6503	SO:0001583	missense	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.86C>T	19.37:g.50266419G>A	ENSP00000246801:p.Ser29Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q8WXJ0	Missense_Mutation	SNP	ENST00000246801.3	37	CCDS12780.1	.	.	.	.	.	.	.	.	.	.	G	9.689	1.151282	0.21371	.	.	ENSG00000126467	ENST00000246801	T	0.34072	1.38	4.93	2.76	0.32466	.	1.574090	0.03982	N	0.293395	T	0.27524	0.0676	N	0.19112	0.55	0.58432	D	0.999999	B	0.32467	0.372	B	0.31337	0.128	T	0.02464	-1.1155	10	0.62326	D	0.03	-0.0341	7.848	0.29437	0.0896:0.1624:0.748:0.0	.	29	Q9UJT2	TSKS_HUMAN	F	29	ENSP00000246801:S29F	ENSP00000246801:S29F	S	-	2	0	TSKS	54958231	0.996000	0.38824	0.564000	0.28396	0.372000	0.29890	2.706000	0.47135	0.483000	0.27608	0.467000	0.42956	TCC		0.642	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1		NM_021733	
TTC13	79573	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	231076263	231076263	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr1:231076263C>A	ENST00000366661.4	-	7	719	c.712G>T	c.(712-714)Gac>Tac	p.D238Y	TTC13_ENST00000366662.4_Missense_Mutation_p.D185Y|TTC13_ENST00000414259.1_Missense_Mutation_p.D185Y	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	238								p.D238Y(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTAGTGAGGTCATTCACTGCT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											114.0	104.0	107.0					1																	231076263		2203	4300	6503	SO:0001583	missense	79573				CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.712G>T	1.37:g.231076263C>A	ENSP00000355621:p.Asp238Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041737	0.75732	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259;ENST00000522399	T;T;T;T	0.74842	1.14;0.34;0.34;-0.88	5.37	5.37	0.77165	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.87091	0.6091	M	0.85462	2.755	0.80722	D	1	P;D;P;P	0.59767	0.833;0.986;0.617;0.855	B;D;B;B	0.64237	0.187;0.923;0.33;0.287	D	0.87648	0.2526	10	0.48119	T	0.1	-0.2714	19.1143	0.93331	0.0:1.0:0.0:0.0	.	163;185;185;238	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	Y	238;185;185;128	ENSP00000355621:D238Y;ENSP00000355622:D185Y;ENSP00000416631:D185Y;ENSP00000428622:D128Y	ENSP00000355621:D238Y	D	-	1	0	TTC13	229142886	1.000000	0.71417	0.967000	0.41034	0.977000	0.68977	7.456000	0.80751	2.520000	0.84964	0.655000	0.94253	GAC		0.448	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2		NM_024525	
VHL	7428	broad.mit.edu;hgsc.bcm.edu	37	3	10183734	10183734	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr3:10183734C>A	ENST00000256474.2	+	1	1043	c.203C>A	c.(202-204)tCg>tAg	p.S68*	VHL_ENST00000345392.2_Nonsense_Mutation_p.S68*|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	68			Missing (in VHLD; type I).|S -> W (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:10627136, ECO:0000269|PubMed:12000816}.		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.S68*(15)|p.N67fs*59(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S68L(1)|p.N67fs*64(1)|p.N67fs*63(1)|p.P61fs*61(1)|p.R69fs*63(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)		TCGGTGAACTCGCGCGAGCCC	0.716		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 - Nonsense(15)|Deletion - Frameshift(3)|Complex - frameshift(2)|Deletion - In frame(1)|Insertion - Frameshift(1)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(24)	GRCh37	CM003058|CM971566	VHL	M							8.0	11.0	10.0					3																	10183734		2146	4213	6359	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.203C>A	3.37:g.10183734C>A	ENSP00000256474:p.Ser68*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	31	5.088584	0.94100	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.45	4.53	0.55603	.	0.369470	0.28203	N	0.016215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.8236	13.5532	0.61745	0.0:0.7597:0.2403:0.0	.	.	.	.	X	68	.	ENSP00000256474:S68X	S	+	2	0	VHL	10158734	0.146000	0.22672	0.981000	0.43875	0.672000	0.39443	0.351000	0.20096	2.567000	0.86603	0.550000	0.68814	TCG		0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VPS13D	55187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	12336481	12336481	+	Missense_Mutation	SNP	C	C	T	rs41279448		TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr1:12336481C>T	ENST00000358136.3	+	19	2966	c.2836C>T	c.(2836-2838)Cgc>Tgc	p.R946C	VPS13D_ENST00000356315.4_Missense_Mutation_p.R946C	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.R946C(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCAGCATACCCGCGAGGTTCT	0.488											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0	5008	,	,		19368	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	59.0	60.0	60.0		2836,2836	4.0	0.9	1	dbSNP_127	60	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	VPS13D	NM_015378.2,NM_018156.2	180,180	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging,probably-damaging	946/4389,946/4364	12336481	4,13002	2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.2836C>T	1.37:g.12336481C>T	ENSP00000350854:p.Arg946Cys	Somatic	679	WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000358136.3	37	CCDS30588.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	12.92	2.081751	0.36758	2.27E-4	3.49E-4	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.55930	0.49;0.5	6.06	4.01	0.46588	.	0.000000	0.85682	D	0.000000	T	0.63462	0.2513	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	T	0.67313	-0.5702	10	0.56958	D	0.05	.	16.3332	0.83050	0.3399:0.6601:0.0:0.0	rs41279448	946;946	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	C	946	ENSP00000348666:R946C;ENSP00000350854:R946C	ENSP00000348666:R946C	R	+	1	0	VPS13D	12259068	0.420000	0.25457	0.900000	0.35374	0.984000	0.73092	1.042000	0.30303	1.539000	0.49286	0.655000	0.94253	CGC		0.488	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2		NM_015378	
XAB2	56949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	7688070	7688070	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr19:7688070C>G	ENST00000358368.4	-	9	1262	c.1225G>C	c.(1225-1227)Gga>Cga	p.G409R	XAB2_ENST00000534844.1_Missense_Mutation_p.G406R	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	409					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G406R(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TCCAGCTGTCCGTTGTCCTCA	0.522								Direct reversal of damage;Nucleotide excision repair (NER)																																									1	Substitution - Missense(1)	kidney(1)											177.0	142.0	154.0					19																	7688070		2203	4300	6503	SO:0001583	missense	56949			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1225G>C	19.37:g.7688070C>G	ENSP00000351137:p.Gly409Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096920	0.94197	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.11169	2.8;2.8	5.08	5.08	0.68730	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.065650	0.64402	D	0.000011	T	0.30198	0.0757	M	0.81341	2.54	0.80722	D	1	P	0.50819	0.939	P	0.54346	0.749	T	0.07195	-1.0785	10	0.72032	D	0.01	-54.9261	17.237	0.87001	0.0:1.0:0.0:0.0	.	409	Q9HCS7	SYF1_HUMAN	R	409;406	ENSP00000351137:G409R;ENSP00000438225:G406R	ENSP00000351137:G409R	G	-	1	0	XAB2	7594070	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.140000	0.77322	2.375000	0.81037	0.643000	0.83706	GGA		0.522	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1		NM_020196	
ZFP36L2	678	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	43452170	43452170	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr2:43452170A>G	ENST00000282388.3	-	2	1066	c.773T>C	c.(772-774)cTc>cCc	p.L258P	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	258					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L258P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGAGAAGCTGAGGCTGTGGTG	0.761																																																	1	Substitution - Missense(1)	kidney(1)											11.0	20.0	17.0					2																	43452170		2145	4226	6371	SO:0001583	missense	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.773T>C	2.37:g.43452170A>G	ENSP00000282388:p.Leu258Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.748134	0.69533	.	.	ENSG00000152518	ENST00000282388	T	0.52754	0.65	4.37	4.37	0.52481	.	0.073354	0.56097	D	0.000035	T	0.55465	0.1922	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.59705	-0.7404	10	0.87932	D	0	-23.2267	12.5657	0.56308	1.0:0.0:0.0:0.0	.	258	P47974	TISD_HUMAN	P	258	ENSP00000282388:L258P	ENSP00000282388:L258P	L	-	2	0	ZFP36L2	43305674	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.657000	0.54474	1.608000	0.50180	0.459000	0.35465	CTC		0.761	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2		NM_006887	
ZFR	51663	hgsc.bcm.edu	37	5	32415213	32415214	+	Frame_Shift_Ins	INS	-	-	G	rs144252164		TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr5:32415213_32415214insG	ENST00000265069.8	-	5	746_747	c.644_645insC	c.(643-645)ccafs	p.P215fs		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	215	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTGGTGTGGCTGGTTTTATGGC	0.51																																																	0																																										SO:0001589	frameshift_variant	51663			AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.645dupC	5.37:g.32415215_32415215dupG	ENSP00000265069:p.Pro215fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Frame_Shift_Ins	INS	ENST00000265069.8	37	CCDS34139.1																																																																																				0.510	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			
ZNF800	168850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127013721	127013721	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr7:127013721C>G	ENST00000393313.1	-	5	2260	c.1669G>C	c.(1669-1671)Gag>Cag	p.E557Q	ZNF800_ENST00000393312.1_Missense_Mutation_p.E557Q|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.E557Q			Q2TB10	ZN800_HUMAN	zinc finger protein 800	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)	p.E557Q(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						GCTCTGATCTCTAAACTGGCT	0.363																																																	2	Substitution - Missense(2)	kidney(2)											76.0	79.0	78.0					7																	127013721		2202	4300	6502	SO:0001583	missense	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1669G>C	7.37:g.127013721C>G	ENSP00000376989:p.Glu557Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180182	0.57800	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312	T;T;T	0.15603	2.41;2.41;2.41	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.23688	0.0573	N	0.08118	0	0.31407	N	0.6759649999999999	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	T	0.28996	-1.0026	8	.	.	.	-0.0028	18.8226	0.92103	0.0:1.0:0.0:0.0	.	460;557	B7Z4V7;Q2TB10	.;ZN800_HUMAN	Q	557	ENSP00000376989:E557Q;ENSP00000265827:E557Q;ENSP00000376988:E557Q	.	E	-	1	0	ZNF800	126800957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.692000	0.91855	0.655000	0.94253	GAG		0.363	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1		NM_176814	
IMMT	10989	broad.mit.edu	37	2	86389158	86389158	+	Silent	SNP	A	A	C			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr2:86389158A>C	ENST00000410111.3	-	8	1224	c.837T>G	c.(835-837)ggT>ggG	p.G279G	IMMT_ENST00000409051.2_Silent_p.G232G|Y_RNA_ENST00000363371.1_RNA|IMMT_ENST00000490238.1_5'UTR|IMMT_ENST00000442664.2_Silent_p.G278G|IMMT_ENST00000449247.2_Silent_p.G268G|IMMT_ENST00000254636.5_Silent_p.G180G	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	279					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.G279G(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTTCAATGCACCCTCCACTG	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											52.0	51.0	51.0					2																	86389158		1928	4152	6080	SO:0001819	synonymous_variant	10989			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.837T>G	2.37:g.86389158A>C		Somatic		WXS	Illumina GAIIx	Phase_I	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Silent	SNP	ENST00000410111.3	37	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.296830	0.23650	.	.	ENSG00000132305	ENST00000419070	.	.	.	4.94	-4.56	0.03431	.	.	.	.	.	T	0.35856	0.0946	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38628	-0.9652	4	.	.	.	-16.6829	0.9534	0.01381	0.3406:0.0975:0.1911:0.3708	.	.	.	.	G	134	.	.	C	-	1	0	IMMT	86242669	0.953000	0.32496	0.867000	0.34043	0.966000	0.64601	-0.048000	0.11944	-0.580000	0.05944	0.391000	0.25812	TGC		0.398	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2		NM_006839	
WASH2P	375260	broad.mit.edu	37	2	114357557	114357557	+	RNA	SNP	A	A	G	rs377652994		TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr2:114357557A>G	ENST00000538033.2	+	0	2800							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GCCTACTTCTAGTGAAACTGG	0.567																																																	0																																												84771					2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114357557A>G		Somatic		WXS	Illumina GAIIx	Phase_I		Nonstop_Mutation	SNP	ENST00000538033.2	37																																																																																					0.567	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1		NM_198943	
Unknown	0	broad.mit.edu	37	1	16974955	16974955	+	IGR	SNP	A	A	G	rs370158239		TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr1:16974955A>G								CROCCP2 (13901 upstream) : RNU1-3 (18324 downstream)																							GCATGCTTTGATGTCTGGGAC	0.657																																																	0																																										SO:0001628	intergenic_variant	11209																															1.37:g.16974955A>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.657									
TADA3	10474	broad.mit.edu	37	3	9825848	9825848	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr3:9825848C>A	ENST00000301964.2	-	8	1528	c.970G>T	c.(970-972)Gcc>Tcc	p.A324S	TADA3_ENST00000440161.1_Missense_Mutation_p.A324S|TADA3_ENST00000343450.2_Missense_Mutation_p.A324S	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	324					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A324S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						AGGCCCTGGGCAATTAGCTCC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											49.0	47.0	48.0					3																	9825848		2203	4300	6503	SO:0001583	missense	10474			AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.970G>T	3.37:g.9825848C>A	ENSP00000307684:p.Ala324Ser	Somatic		WXS	Illumina GAIIx	Phase_I	Q6FI83|Q9UFS2	Missense_Mutation	SNP	ENST00000301964.2	37	CCDS2583.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663235	0.29515	.	.	ENSG00000171148	ENST00000301964;ENST00000440161;ENST00000343450	.	.	.	6.17	6.17	0.99709	.	0.048179	0.85682	D	0.000000	T	0.51449	0.1675	N	0.22421	0.69	0.58432	D	0.999996	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.003	T	0.41288	-0.9517	9	0.18710	T	0.47	-12.5147	20.8794	0.99867	0.0:1.0:0.0:0.0	.	324;324	O75528;A8K899	TADA3_HUMAN;.	S	324	.	ENSP00000307684:A324S	A	-	1	0	TADA3	9800848	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	5.802000	0.69122	2.941000	0.99782	0.655000	0.94253	GCC		0.612	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1			
LOC101930452	101930452	broad.mit.edu	37	12	9548786	9548786	+	lincRNA	SNP	T	T	G			TCGA-BP-4968-01A-01D-1462-08	TCGA-BP-4968-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d777d5ec-4632-446e-aeac-8ae3e5273fe2	4833d13e-8856-4646-a528-49cf6c34cd82	g.chr12:9548786T>G	ENST00000567749.1	+	0	2961																											ttctcttactttggtaacatc	0.478																																																	0																																												0																															12.37:g.9548786T>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000567749.1	37																																																																																					0.478	RP13-735L24.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421339.1			
