#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
ABCA7	10347	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1054031	1054031	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr19:1054031A>T	ENST00000263094.6	+	26	3730	c.3499A>T	c.(3499-3501)Aca>Tca	p.T1167S	ABCA7_ENST00000433129.1_Missense_Mutation_p.T1167S|ABCA7_ENST00000435683.2_Missense_Mutation_p.T1029S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1167					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.T1167S(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCTATGCACAGGCATTGC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											75.0	86.0	82.0					19																	1054031		2203	4300	6503	SO:0001583	missense	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.3499A>T	19.37:g.1054031A>T	ENSP00000263094:p.Thr1167Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	A	0.034	-1.317142	0.01331	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.85171	-1.95;-1.95	3.22	-6.44	0.01920	.	.	.	.	.	T	0.62011	0.2393	N	0.14661	0.345	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.11329	0.006;0.001	T	0.55023	-0.8205	9	0.08837	T	0.75	.	2.2655	0.04077	0.2501:0.2484:0.3765:0.125	.	1029;1167	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	S	1167	ENSP00000263094:T1167S;ENSP00000414062:T1167S	ENSP00000263094:T1167S	T	+	1	0	ABCA7	1005031	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-4.416000	0.00237	-1.931000	0.01055	-0.856000	0.03024	ACA		0.592	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1		NM_019112	
AZIN2	113451	hgsc.bcm.edu	37	1	33583668	33583669	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr1:33583668_33583669insG	ENST00000294517.6	+	11	1782_1783	c.1195_1196insG	c.(1195-1197)tggfs	p.W399fs	ADC_ENST00000398167.1_Frame_Shift_Ins_p.W419fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.W419fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.W399fs|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		399					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TTCCCCCTTTTGGGGGACCCAG	0.619																																																	0																																										SO:0001589	frameshift_variant	113451																														ENST00000294517.6:c.1200dupG	1.37:g.33583673_33583673dupG	ENSP00000294517:p.Trp399fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Frame_Shift_Ins	INS	ENST00000294517.6	37	CCDS375.1																																																																																				0.619	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			
AGPAT5	55326	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	6612685	6612685	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr8:6612685A>G	ENST00000285518.6	+	7	1171	c.859A>G	c.(859-861)Atc>Gtc	p.I287V	AGPAT5_ENST00000530716.1_3'UTR	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	287					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.I287V(1)	AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		ACGTTTCGAAATCAAAGATAA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											84.0	69.0	74.0					8																	6612685		2203	4300	6503	SO:0001583	missense	55326			AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20886	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, epsilon"""	614796	"""1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"""				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.859A>G	8.37:g.6612685A>G	ENSP00000285518:p.Ile287Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IZ47|Q9BQG4	Missense_Mutation	SNP	ENST00000285518.6	37	CCDS34796.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.569688	0.28003	.	.	ENSG00000155189	ENST00000285518	T	0.41065	1.01	5.81	5.81	0.92471	.	0.046101	0.85682	D	0.000000	T	0.34106	0.0886	L	0.43923	1.385	0.49798	D	0.999827	B	0.14012	0.009	B	0.12156	0.007	T	0.16897	-1.0387	10	0.44086	T	0.13	-27.1511	8.6283	0.33904	0.9157:0.0:0.0843:0.0	.	287	Q9NUQ2	PLCE_HUMAN	V	287	ENSP00000285518:I287V	ENSP00000285518:I287V	I	+	1	0	AGPAT5	6600093	1.000000	0.71417	0.992000	0.48379	0.943000	0.58893	3.374000	0.52402	2.217000	0.71921	0.482000	0.46254	ATC		0.353	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1		NM_018361	
AVPR1A	552	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	63543859	63543859	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr12:63543859G>T	ENST00000299178.2	-	1	863	c.758C>A	c.(757-759)tCg>tAg	p.S253*		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	253					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.S253*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCTCTGGCGCGACGCCGTCTT	0.617																																																	1	Substitution - Nonsense(1)	kidney(1)											96.0	97.0	97.0					12																	63543859		2203	4300	6503	SO:0001587	stop_gained	552			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.758C>A	12.37:g.63543859G>T	ENSP00000299178:p.Ser253*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000299178.2	37	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	35	5.553085	0.96501	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	.	.	.	5.29	1.27	0.21489	.	0.855382	0.10454	N	0.672750	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0693	5.2728	0.15634	0.2419:0.2711:0.487:0.0	.	.	.	.	X	34;253	.	.	S	-	2	0	AVPR1A	61830126	0.005000	0.15991	0.004000	0.12327	0.911000	0.54048	0.877000	0.28106	-0.038000	0.13624	0.455000	0.32223	TCG		0.617	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			
BACH2	60468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	90647879	90647879	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr6:90647879C>T	ENST00000257749.4	-	8	2734	c.2027G>A	c.(2026-2028)tGt>tAt	p.C676Y	BACH2_ENST00000537989.1_Missense_Mutation_p.C676Y|BACH2_ENST00000343122.3_Missense_Mutation_p.C676Y	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	676	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)	p.C676Y(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GCGGATTTCACATTCTAAATT	0.458																																																	2	Substitution - Missense(2)	kidney(2)											100.0	103.0	102.0					6																	90647879		2203	4300	6503	SO:0001583	missense	60468			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.2027G>A	6.37:g.90647879C>T	ENSP00000257749:p.Cys676Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933340	0.73442	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	D;D;D	0.91180	-2.8;-2.8;-2.8	4.76	4.76	0.60689	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.047335	0.85682	D	0.000000	D	0.85461	0.5702	N	0.19112	0.55	0.53005	D	0.999965	D	0.71674	0.998	D	0.66196	0.942	T	0.82778	-0.0289	10	0.02654	T	1	-19.7125	17.9652	0.89098	0.0:1.0:0.0:0.0	.	676	Q9BYV9	BACH2_HUMAN	Y	676	ENSP00000257749:C676Y;ENSP00000437473:C676Y;ENSP00000345642:C676Y	ENSP00000257749:C676Y	C	-	2	0	BACH2	90704600	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.827000	0.69300	2.470000	0.83445	0.563000	0.77884	TGT		0.458	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2		NM_021813	
BAIAP2	10458	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	79027521	79027521	+	Silent	SNP	G	G	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr17:79027521G>A	ENST00000321300.6	+	2	201	c.108G>A	c.(106-108)aaG>aaA	p.K36K	BAIAP2_ENST00000575245.1_Silent_p.K69K|BAIAP2_ENST00000435091.3_Silent_p.K36K|BAIAP2_ENST00000575712.1_Silent_p.K36K|BAIAP2_ENST00000392411.3_Intron|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000321280.7_Silent_p.K36K|BAIAP2_ENST00000428708.2_Silent_p.K36K	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	36	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)	p.K36K(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCATGGGGAAGAATTACGAGA	0.612																																																	2	Substitution - coding silent(2)	kidney(2)											135.0	120.0	126.0					17																	79027521		2203	4300	6503	SO:0001819	synonymous_variant	10458			AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.108G>A	17.37:g.79027521G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	37	CCDS11775.1																																																																																				0.612	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			
BAZ2A	11176	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57007904	57007904	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr12:57007904T>C	ENST00000551812.1	-	4	948	c.755A>G	c.(754-756)tAc>tGc	p.Y252C	BAZ2A_ENST00000379441.3_Missense_Mutation_p.Y222C|BAZ2A_ENST00000179765.5_Missense_Mutation_p.Y220C|BAZ2A_ENST00000549884.1_Missense_Mutation_p.Y250C	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	252					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Y252C(2)|p.Y288C(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGAGCCATTGTAGCCACACAT	0.453																																																	3	Substitution - Missense(3)	kidney(3)											128.0	122.0	124.0					12																	57007904		1972	4151	6123	SO:0001583	missense	11176			AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.755A>G	12.37:g.57007904T>C	ENSP00000446880:p.Tyr252Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755927	0.69648	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.69561	-0.27;-0.26;-0.41;-0.4	5.01	5.01	0.66863	.	0.149551	0.45361	D	0.000365	T	0.70561	0.3238	N	0.24115	0.695	0.43841	D	0.996424	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.74627	-0.3602	10	0.87932	D	0	.	13.0136	0.58745	0.0:0.0:0.0:1.0	.	250;252	F8VU39;Q9UIF9	.;BAZ2A_HUMAN	C	222;220;252;250	ENSP00000368754:Y222C;ENSP00000179765:Y220C;ENSP00000446880:Y252C;ENSP00000447941:Y250C	ENSP00000179765:Y220C	Y	-	2	0	BAZ2A	55294171	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.633000	0.61318	2.237000	0.73441	0.460000	0.39030	TAC		0.453	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1		NM_013449	
C10orf91	170393	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	134261287	134261287	+	Silent	SNP	C	C	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr10:134261287C>T	ENST00000392630.3	+	3	221	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L	C10orf91_ENST00000490765.1_3'UTR|C10orf91_ENST00000321248.2_Silent_p.L54L	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	54								p.L54L(1)		endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		TCTCAGCTTCCTGTTCACAGA	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											131.0	123.0	126.0					10																	134261287		2203	4300	6503	SO:0001819	synonymous_variant	170393			BC030794	CCDS7668.1	10q26.3	2004-03-16			ENSG00000180066	ENSG00000180066			27275	protein-coding gene	gene with protein product						12477932	Standard	NM_173541		Approved	bA432J24.4	uc001llm.3	Q5T1B1	OTTHUMG00000019289	ENST00000392630.3:c.160C>T	10.37:g.134261287C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N0T7	Silent	SNP	ENST00000392630.3	37	CCDS7668.1																																																																																				0.537	C10orf91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051078.2		NM_173541	
CASP2	835	broad.mit.edu;ucsc.edu	37	7	143000899	143000899	+	Missense_Mutation	SNP	C	C	A	rs145619760		TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr7:143000899C>A	ENST00000310447.5	+	9	1231	c.990C>A	c.(988-990)gaC>gaA	p.D330E	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	330					aging (GO:0007568)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|ectopic germ cell programmed cell death (GO:0035234)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|luteolysis (GO:0001554)|neural retina development (GO:0003407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron apoptotic process (GO:0043525)|protein processing (GO:0016485)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.D330E(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					GTGGGGTTGACCAACAAGATG	0.522																																																	1	Substitution - Missense(1)	kidney(1)											102.0	87.0	92.0					7																	143000899		2203	4300	6503	SO:0001583	missense	835			AK096245, BC002427, BM998653, BX537669, CB988674, U13021	CCDS5879.1, CCDS47733.1	7q34-q35	2014-01-20	2008-08-01		ENSG00000106144	ENSG00000106144		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1503	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 57"""	600639	"""neural precursor cell expressed, developmentally down-regulated 2"""	NEDD2		7789948, 8780721	Standard	NM_032982		Approved	ICH1, PPP1R57, MGC2181	uc003wco.3	P42575	OTTHUMG00000023641	ENST00000310447.5:c.990C>A	7.37:g.143000899C>A	ENSP00000312664:p.Asp330Glu	Somatic		WXS	Illumina GAIIx	Phase_I	A8K5F9|D3DXD6|E9PDN0|P42576|Q59F21|Q7KZL6|Q86UJ3|Q9BUP7|Q9BZK9|Q9BZL0	Missense_Mutation	SNP	ENST00000310447.5	37	CCDS5879.1	.	.	.	.	.	.	.	.	.	.	C	9.646	1.140317	0.21205	.	.	ENSG00000106144	ENST00000310447	T	0.19806	2.12	5.81	3.96	0.45880	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.041485	0.85682	D	0.000000	T	0.11707	0.0285	N	0.11673	0.155	0.80722	D	1	B	0.34372	0.451	B	0.38327	0.271	T	0.22034	-1.0228	10	0.22109	T	0.4	.	8.7256	0.34467	0.0:0.6763:0.0:0.3237	.	330	P42575	CASP2_HUMAN	E	330	ENSP00000312664:D330E	ENSP00000312664:D330E	D	+	3	2	CASP2	142711021	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	1.862000	0.39448	0.730000	0.32425	-0.212000	0.12691	GAC		0.522	CASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059962.3		NM_032982	
CD300E	342510	broad.mit.edu;hgsc.bcm.edu	37	17	72613272	72613272	+	Missense_Mutation	SNP	C	C	T	rs569640794		TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr17:72613272C>T	ENST00000328630.3	-	2	413	c.373G>A	c.(373-375)Gtg>Atg	p.V125M	CD300E_ENST00000392619.1_Missense_Mutation_p.V152M|CD300E_ENST00000426295.2_Missense_Mutation_p.V166M			Q496F6	CLM2_HUMAN	CD300e molecule	125					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V125M(1)|p.V166M(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						GAAACATACACCCTAACCAGG	0.547																																																	2	Substitution - Missense(2)	kidney(2)											110.0	97.0	101.0					17																	72613272		2203	4300	6503	SO:0001583	missense	342510			BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.373G>A	17.37:g.72613272C>T	ENSP00000329942:p.Val125Met	Somatic		WXS	Illumina HiSeq	Phase_I	B4DNS1|Q7Z7I3	Missense_Mutation	SNP	ENST00000328630.3	37	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192861	0.58017	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630	T;T;T	0.07021	3.23;3.23;3.23	4.88	4.88	0.63580	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.42821	D	0.000652	T	0.13030	0.0316	N	0.08118	0	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.15636	-1.0430	10	0.87932	D	0	-16.95	13.9084	0.63850	0.0:1.0:0.0:0.0	.	125	Q496F6	CLM2_HUMAN	M	152;166;125	ENSP00000376395:V152M;ENSP00000416642:V166M;ENSP00000329942:V125M	ENSP00000329942:V125M	V	-	1	0	CD300E	70124867	0.211000	0.23529	0.044000	0.18714	0.005000	0.04900	1.116000	0.31221	2.424000	0.82194	0.491000	0.48974	GTG		0.547	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_181449	
COQ5	84274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	120966769	120966769	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr12:120966769A>T	ENST00000288532.6	-	1	216	c.176T>A	c.(175-177)gTg>gAg	p.V59E	COQ5_ENST00000445328.2_Missense_Mutation_p.V59E	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	59					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)	p.V59E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCTTCCGACACAGTCTCAAA	0.597																																																	1	Substitution - Missense(1)	kidney(1)											136.0	125.0	129.0					12																	120966769		2203	4300	6503	SO:0001583	missense	84274			AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.176T>A	12.37:g.120966769A>T	ENSP00000288532:p.Val59Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Missense_Mutation	SNP	ENST00000288532.6	37	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934959	0.73442	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000547943	T;D;T	0.85088	-0.88;-1.94;-1.1	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.93501	0.7926	M	0.90650	3.135	0.47183	D	0.999343	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94574	0.7773	10	0.87932	D	0	.	14.2838	0.66232	1.0:0.0:0.0:0.0	.	59;59	B4DP72;Q5HYK3	.;COQ5_HUMAN	E	59	ENSP00000288532:V59E;ENSP00000401798:V59E;ENSP00000449874:V59E	ENSP00000288532:V59E	V	-	2	0	COQ5	119451152	1.000000	0.71417	0.991000	0.47740	0.114000	0.19823	7.680000	0.84062	2.264000	0.75181	0.533000	0.62120	GTG		0.597	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2		NM_032314	
NSG1	27065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	4389419	4389419	+	Silent	SNP	C	C	G			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr4:4389419C>G	ENST00000421177.2	+	6	2054	c.63C>G	c.(61-63)ggC>ggG	p.G21G	NSG1_ENST00000433139.2_Silent_p.G21G|NSG1_ENST00000505246.1_Silent_p.G21G|NSG1_ENST00000504171.1_Silent_p.G21G|NSG1_ENST00000506380.1_Silent_p.G21G|NSG1_ENST00000397958.1_Silent_p.G21G|NSG1_ENST00000513555.1_Silent_p.G21G			P42857	NSG1_HUMAN		21					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.G21G(1)									TGGAGGATGGCTTCGACACCA	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	75.0	77.0					4																	4389419		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000421177.2:c.63C>G	4.37:g.4389419C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B4DXC5|Q49AQ1	Silent	SNP	ENST00000421177.2	37	CCDS3376.1																																																																																				0.642	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1			
DAXX	1616	broad.mit.edu;ucsc.edu	37	6	33289504	33289504	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr6:33289504A>T	ENST00000374542.5	-	2	403	c.199T>A	c.(199-201)Ttc>Atc	p.F67I	DAXX_ENST00000266000.6_Missense_Mutation_p.F67I|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	67	Necessary for interaction with USP7 and ATRX.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.F67I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						ACCTCTTCGAACAGCTTCTCA	0.572			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																			Rec	yes		6	6p21.3	1616	death-domain associated protein		E	1	Substitution - Missense(1)	kidney(1)											237.0	243.0	241.0					6																	33289504		2203	4300	6503	SO:0001583	missense	1616			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.199T>A	6.37:g.33289504A>T	ENSP00000363668:p.Phe67Ile	Somatic		WXS	Illumina GAIIx	Phase_I	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.664045	0.47572	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000446403;ENST00000453407	.	.	.	5.12	3.94	0.45596	.	0.055856	0.64402	N	0.000001	T	0.33644	0.0870	L	0.48642	1.525	0.80722	D	1	B;B	0.26120	0.142;0.142	B;B	0.29598	0.104;0.104	T	0.36065	-0.9763	9	0.72032	D	0.01	-7.2606	8.1038	0.30874	0.8207:0.0:0.0:0.1793	.	79;67	B4E1C1;Q9UER7	.;DAXX_HUMAN	I	67	.	ENSP00000266000:F67I	F	-	1	0	DAXX	33397482	1.000000	0.71417	0.984000	0.44739	0.302000	0.27658	4.661000	0.61518	0.954000	0.37851	0.448000	0.29417	TTC		0.572	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			
AMER2	219287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	25744223	25744223	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr13:25744223T>C	ENST00000515384.1	-	1	2202	c.1535A>G	c.(1534-1536)gAg>gGg	p.E512G	AMER2_ENST00000381853.3_Missense_Mutation_p.E393G|AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000357816.2_Missense_Mutation_p.E393G			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	512					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.E512G(1)|p.E393G(1)									TTCCTGCTGCTCCTTCTCCGG	0.657																																																	2	Substitution - Missense(2)	kidney(2)											64.0	59.0	61.0					13																	25744223		2203	4300	6503	SO:0001583	missense	0			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1535A>G	13.37:g.25744223T>C	ENSP00000426528:p.Glu512Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	T	19.90	3.912834	0.72983	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.21932	1.98;1.98;1.98	4.98	4.98	0.66077	.	0.202156	0.43747	D	0.000521	T	0.46639	0.1403	M	0.76574	2.34	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.49969	-0.8882	10	0.87932	D	0	-18.9543	13.9944	0.64388	0.0:0.0:0.0:1.0	.	512;393	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	G	393;393;512	ENSP00000350469:E393G;ENSP00000371277:E393G;ENSP00000426528:E512G	ENSP00000350469:E393G	E	-	2	0	FAM123A	24642223	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.855000	0.69510	2.088000	0.63022	0.459000	0.35465	GAG		0.657	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1		NM_152704	
FBN1	2200	hgsc.bcm.edu;ucsc.edu	37	15	48936936	48936936	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr15:48936936delG	ENST00000316623.5	-	2	486	c.31delC	c.(31-33)ctgfs	p.L11fs	RP11-227D13.1_ENST00000558061.1_lincRNA|FBN1_ENST00000560355.1_Frame_Shift_Del_p.L11fs	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	11					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTAAATCCCAGGGCGATCTCC	0.682																																																	0			GRCh37	CD042199	FBN1	D							64.0	59.0	61.0					15																	48936936		2197	4296	6493	SO:0001589	frameshift_variant	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.31delC	15.37:g.48936936delG	ENSP00000325527:p.Leu11fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RUU0|D2JYH6|Q15972|Q75N87	Frame_Shift_Del	DEL	ENST00000316623.5	37	CCDS32232.1																																																																																				0.682	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			
FBXO38	81545	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	147778625	147778625	+	Silent	SNP	G	G	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr5:147778625G>A	ENST00000340253.5	+	3	360	c.192G>A	c.(190-192)gtG>gtA	p.V64V	FBXO38_ENST00000394370.3_Silent_p.V64V|FBXO38_ENST00000513826.1_Silent_p.V64V|FBXO38_ENST00000296701.6_Silent_p.V64V|FBXO38_ENST00000509699.2_3'UTR			Q6PIJ6	FBX38_HUMAN	F-box protein 38	64	F-box.|Interaction with KLF7. {ECO:0000250}.				cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V64V(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAAGCAGTGACCCTATATC	0.453																																																	1	Substitution - coding silent(1)	kidney(1)											236.0	218.0	224.0					5																	147778625		2203	4300	6503	SO:0001819	synonymous_variant	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.192G>A	5.37:g.147778625G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37																																																																																					0.453	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2		NM_030793	
FOXR2	139628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	55650703	55650703	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chrX:55650703G>C	ENST00000339140.3	+	1	871	c.559G>C	c.(559-561)Gag>Cag	p.E187Q		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	187					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E187Q(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CAACAACCAAGAGAAGTCCTG	0.502																																																	1	Substitution - Missense(1)	kidney(1)											64.0	59.0	61.0					X																	55650703		2203	4300	6503	SO:0001583	missense	139628			BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.559G>C	X.37:g.55650703G>C	ENSP00000427329:p.Glu187Gln	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000339140.3	37	CCDS35308.1	.	.	.	.	.	.	.	.	.	.	g	1.934	-0.445267	0.04604	.	.	ENSG00000189299	ENST00000339140	D	0.93763	-3.28	2.74	-0.197	0.13228	Winged helix-turn-helix transcription repressor DNA-binding (1);	1.125910	0.06735	N	0.777371	D	0.91064	0.7188	L	0.57536	1.79	0.09310	N	1	P	0.39717	0.684	B	0.43809	0.432	T	0.78802	-0.2061	10	0.15952	T	0.53	.	6.386	0.21561	0.1291:0.5645:0.3063:0.0	.	187	Q6PJQ5	FOXR2_HUMAN	Q	187	ENSP00000427329:E187Q	ENSP00000427329:E187Q	E	+	1	0	FOXR2	55667428	0.011000	0.17503	0.000000	0.03702	0.000000	0.00434	0.270000	0.18607	-0.160000	0.11002	-0.840000	0.03056	GAG		0.502	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2		NM_198451	
UNC79	57578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94088412	94088412	+	Silent	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr14:94088412C>A	ENST00000393151.2	+	30	4833	c.4833C>A	c.(4831-4833)tcC>tcA	p.S1611S	UNC79_ENST00000553484.1_Silent_p.S1633S|UNC79_ENST00000256339.4_Silent_p.S1434S|UNC79_ENST00000555664.1_Silent_p.S1611S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1611					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1434S(1)|p.S1633S(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TAGATCTATCCTCAGATTCAA	0.463																																																	2	Substitution - coding silent(2)	kidney(2)											74.0	77.0	76.0					14																	94088412		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4833C>A	14.37:g.94088412C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.463	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1		XM_028395	
KLHL25	64410	broad.mit.edu;hgsc.bcm.edu	37	15	86311567	86311567	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr15:86311567C>A	ENST00000337975.5	-	2	1749	c.1475G>T	c.(1474-1476)aGc>aTc	p.S492I	MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.S492I	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	492					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)		p.S492I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GAAGATCTGGCTGCCCAGGAC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											88.0	82.0	84.0					15																	86311567		2202	4299	6501	SO:0001583	missense	64410				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.1475G>T	15.37:g.86311567C>A	ENSP00000336800:p.Ser492Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.353950	0.61293	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.78246	-1.16;-1.16	5.71	5.71	0.89125	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	L	0.41492	1.28	0.51012	D	0.999909	P	0.41102	0.738	P	0.45753	0.492	T	0.79899	-0.1608	10	0.87932	D	0	.	18.8314	0.92141	0.0:1.0:0.0:0.0	.	492	Q9H0H3	ENC2_HUMAN	I	492;461;492	ENSP00000336800:S492I;ENSP00000444739:S492I	ENSP00000336800:S492I	S	-	2	0	KLHL25	84112571	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.959000	0.56744	2.700000	0.92200	0.462000	0.41574	AGC		0.612	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1		NM_022480	
LPIN1	23175	broad.mit.edu;hgsc.bcm.edu	37	2	11911528	11911528	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr2:11911528C>T	ENST00000256720.2	+	4	412	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	LPIN1_ENST00000425416.2_Missense_Mutation_p.P113S|LPIN1_ENST00000396099.1_Missense_Mutation_p.P113S|LPIN1_ENST00000449576.2_Missense_Mutation_p.P156S|LPIN1_ENST00000396098.1_Missense_Mutation_p.P113S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	107	N-LIP.				cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)	p.P107S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GGCCACCTCCCCCATCCTGTC	0.517																																																	1	Substitution - Missense(1)	kidney(1)											61.0	66.0	64.0					2																	11911528		2203	4300	6503	SO:0001583	missense	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.319C>T	2.37:g.11911528C>T	ENSP00000256720:p.Pro107Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160874	0.94727	.	.	ENSG00000134324	ENST00000449576;ENST00000396098;ENST00000396099;ENST00000425416;ENST00000256720	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.8	5.8	0.92144	Lipin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89532	0.6742	M	0.82323	2.585	0.80722	D	1	D;D;D	0.76494	0.998;0.99;0.999	D;D;D	0.79108	0.954;0.943;0.992	D	0.89715	0.3915	10	0.62326	D	0.03	-22.2671	20.0609	0.97674	0.0:1.0:0.0:0.0	.	156;107;113	F5GY24;Q14693;A8MU38	.;LPIN1_HUMAN;.	S	156;113;113;113;107	ENSP00000397908:P156S;ENSP00000379405:P113S;ENSP00000379406:P113S;ENSP00000401522:P113S;ENSP00000256720:P107S	ENSP00000256720:P107S	P	+	1	0	LPIN1	11828979	1.000000	0.71417	0.998000	0.56505	0.806000	0.45545	7.395000	0.79876	2.755000	0.94549	0.655000	0.94253	CCC		0.517	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3		NM_145693	
LSP1	4046	broad.mit.edu;ucsc.edu	37	11	1908746	1908746	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr11:1908746C>T	ENST00000311604.3	+	10	1148	c.973C>T	c.(973-975)Cat>Tat	p.H325Y	LSP1_ENST00000406638.2_Missense_Mutation_p.H263Y|LSP1_ENST00000405957.2_Missense_Mutation_p.H263Y|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Missense_Mutation_p.H453Y	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	325					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)	p.H325Y(1)|p.H263Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		GGCCACCGGGCATGGGAAGTA	0.572																																																	2	Substitution - Missense(2)	kidney(2)											102.0	99.0	100.0					11																	1908746		2202	4299	6501	SO:0001583	missense	4046			M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.973C>T	11.37:g.1908746C>T	ENSP00000308383:p.His325Tyr	Somatic		WXS	Illumina GAIIx	Phase_I	B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Missense_Mutation	SNP	ENST00000311604.3	37	CCDS31334.1	.	.	.	.	.	.	.	.	.	.	.	23.3	4.397772	0.83120	.	.	ENSG00000130592	ENST00000311604;ENST00000381775;ENST00000405957;ENST00000406638	T;T;T;T	0.35973	1.38;1.28;1.41;1.41	3.95	3.95	0.45737	.	0.000000	0.39083	U	0.001469	T	0.48466	0.1501	L	0.32530	0.975	0.47153	D	0.999336	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.52909	-0.8512	10	0.72032	D	0.01	-23.0481	15.0962	0.72235	0.0:1.0:0.0:0.0	.	453;325	E9PFP3;P33241	.;LSP1_HUMAN	Y	325;453;263;263	ENSP00000308383:H325Y;ENSP00000371194:H453Y;ENSP00000383932:H263Y;ENSP00000384022:H263Y	ENSP00000308383:H325Y	H	+	1	0	LSP1	1865322	0.993000	0.37304	0.955000	0.39395	0.925000	0.55904	3.983000	0.56916	2.218000	0.71995	0.305000	0.20034	CAT		0.572	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3		NM_002339	
MRPS5	64969	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	95780928	95780928	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr2:95780928T>C	ENST00000272418.2	-	3	368	c.160A>G	c.(160-162)Acc>Gcc	p.T54A	MRPS5_ENST00000475040.1_5'UTR	NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	54					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.T54A(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GTGTCTCTGGTTCCCAGTGAT	0.463											OREG0014795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											167.0	149.0	156.0					2																	95780928		2203	4300	6503	SO:0001583	missense	64969			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.160A>G	2.37:g.95780928T>C	ENSP00000272418:p.Thr54Ala	Somatic	1315	WXS	Illumina HiSeq	Phase_I	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.844714	0.32606	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.08	-9.34	0.00636	.	1.008280	0.07952	N	0.980984	T	0.21307	0.0513	L	0.35288	1.05	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.001	T	0.13229	-1.0517	9	0.25751	T	0.34	-2.1524	3.6533	0.08212	0.1106:0.366:0.3389:0.1846	.	54;54	B4DIW8;P82675	.;RT05_HUMAN	A	54	.	ENSP00000272418:T54A	T	-	1	0	MRPS5	95144655	0.000000	0.05858	0.000000	0.03702	0.111000	0.19643	-1.199000	0.03032	-1.650000	0.01506	0.460000	0.39030	ACC		0.463	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1		NM_031902	
MYO5C	55930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	52539694	52539694	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr15:52539694C>G	ENST00000261839.7	-	15	2003	c.1842G>C	c.(1840-1842)aaG>aaC	p.K614N	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	614	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K614N(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGCTGTTTGGCTTGATGACTT	0.478																																																	1	Substitution - Missense(1)	kidney(1)											152.0	143.0	146.0					15																	52539694		1929	4138	6067	SO:0001583	missense	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.1842G>C	15.37:g.52539694C>G	ENSP00000261839:p.Lys614Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320088	0.60634	.	.	ENSG00000128833	ENST00000261839	T	0.20598	2.06	5.55	0.491	0.16867	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.26629	0.0651	M	0.71036	2.16	0.80722	D	1	B	0.30741	0.293	B	0.41412	0.356	T	0.04825	-1.0924	10	0.18276	T	0.48	.	10.1706	0.42908	0.0:0.4684:0.0:0.5316	.	614	Q9NQX4	MYO5C_HUMAN	N	614	ENSP00000261839:K614N	ENSP00000261839:K614N	K	-	3	2	MYO5C	50326986	0.924000	0.31332	0.457000	0.27056	0.994000	0.84299	0.301000	0.19174	0.124000	0.18369	0.655000	0.94253	AAG		0.478	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1		NM_018728	
OR10AG1	282770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55735328	55735328	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr11:55735328C>A	ENST00000312345.2	-	1	662	c.612G>T	c.(610-612)ttG>ttT	p.L204F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L204F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGACAACAATCAACAGAAATG	0.418																																																	1	Substitution - Missense(1)	kidney(1)											73.0	73.0	73.0					11																	55735328		2201	4296	6497	SO:0001583	missense	282770			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.612G>T	11.37:g.55735328C>A	ENSP00000311477:p.Leu204Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545824	0.45280	.	.	ENSG00000174970	ENST00000312345	T	0.42131	0.98	5.37	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000556	T	0.34395	0.0896	L	0.37507	1.11	0.09310	N	0.999991	P	0.35872	0.525	B	0.44163	0.443	T	0.15665	-1.0429	10	0.48119	T	0.1	.	4.2495	0.10688	0.0:0.5565:0.1701:0.2734	.	204	Q8NH19	O10AG_HUMAN	F	204	ENSP00000311477:L204F	ENSP00000311477:L204F	L	-	3	2	OR10AG1	55491904	0.000000	0.05858	0.704000	0.30370	0.954000	0.61252	-1.697000	0.01910	0.675000	0.31264	0.477000	0.44152	TTG		0.418	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1		NM_001005491	
OR5V1	81696	broad.mit.edu;hgsc.bcm.edu	37	6	29323588	29323588	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr6:29323588G>A	ENST00000377154.1	-	4	684	c.385C>T	c.(385-387)Cct>Tct	p.P129S	OR5V1_ENST00000543825.1_Missense_Mutation_p.P129S			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P129S(1)		breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TACCTTAAAGGATTGCAGATT	0.428																																					Ovarian(32;43 883 21137 32120 42650)												1	Substitution - Missense(1)	kidney(1)											74.0	75.0	75.0					6																	29323588		2203	4299	6502	SO:0001583	missense	81696				CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.385C>T	6.37:g.29323588G>A	ENSP00000366359:p.Pro129Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Missense_Mutation	SNP	ENST00000377154.1	37	CCDS4657.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594037	0.66219	.	.	ENSG00000243729	ENST00000377154;ENST00000377151;ENST00000543825	T;T	0.01838	4.61;4.61	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.260548	0.20411	N	0.092847	T	0.15565	0.0375	H	0.95950	3.745	0.52099	D	0.999949	D	0.89917	1.0	D	0.87578	0.998	T	0.12656	-1.0539	10	0.72032	D	0.01	-53.1172	17.0395	0.86484	0.0:0.0:1.0:0.0	.	129	Q9UGF6	OR5V1_HUMAN	S	129	ENSP00000366359:P129S;ENSP00000443309:P129S	ENSP00000366356:P129S	P	-	1	0	OR5V1	29431567	1.000000	0.71417	0.096000	0.21009	0.510000	0.34073	6.720000	0.74723	2.422000	0.82143	0.543000	0.68304	CCT		0.428	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52621446	52621446	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr3:52621446C>A	ENST00000296302.7	-	19	3047	c.3046G>T	c.(3046-3048)Gaa>Taa	p.E1016*	PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E991*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E1031*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E1016*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E991*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E1016*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E984*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E1031*			Q86U86	PB1_HUMAN	polybromo 1	1016	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E1016*(2)|p.E984delE(1)|p.E984*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTAAAAACTTCTTTTTCTAGA	0.378			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	4	Substitution - Nonsense(3)|Deletion - In frame(1)	kidney(3)|prostate(1)											79.0	82.0	81.0					3																	52621446		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3046G>T	3.37:g.52621446C>A	ENSP00000296302:p.Glu1016*	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	41	8.741481	0.98935	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.2576	20.3081	0.98638	0.0:1.0:0.0:0.0	.	.	.	.	X	984;991;1016;1016;1016;991;1031;1031;1015;974	.	ENSP00000296302:E1016X	E	-	1	0	PBRM1	52596486	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.795000	0.96236	0.655000	0.94253	GAA		0.378	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PEG3	5178	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57325907	57325907	+	Silent	SNP	T	T	G			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr19:57325907T>G	ENST00000326441.9	-	10	4266	c.3903A>C	c.(3901-3903)gtA>gtC	p.V1301V	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.V1177V|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.V1301V|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.V1175V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1301					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.V1301V(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TATGAACAGTTACGTGATCTG	0.458																																																	2	Substitution - coding silent(2)	kidney(2)											105.0	98.0	100.0					19																	57325907		2203	4300	6503	SO:0001819	synonymous_variant	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3903A>C	19.37:g.57325907T>G		Somatic		WXS	Illumina HiSeq	Phase_I	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	CCDS12948.1																																																																																				0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			
PGD	5226	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	10477169	10477169	+	Silent	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr1:10477169C>A	ENST00000270776.8	+	9	1008	c.970C>A	c.(970-972)Cgg>Agg	p.R324R	PGD_ENST00000538557.1_Silent_p.R311R|PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Silent_p.R302R	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	324					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)	p.R324R(1)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	GGAGGACATTCGGAAGGTGGG	0.527																																																	1	Substitution - coding silent(1)	kidney(1)											109.0	109.0	109.0					1																	10477169		2203	4300	6503	SO:0001819	synonymous_variant	5226			BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.970C>A	1.37:g.10477169C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K2Y9|B4DQJ8|Q9BWD8	Silent	SNP	ENST00000270776.8	37	CCDS113.1																																																																																				0.527	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005398.1		NM_002631	
C10orf55	414236	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75675037	75675037	+	Intron	SNP	A	A	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr10:75675037A>T	ENST00000409178.1	-	2	268				PLAU_ENST00000372762.4_Missense_Mutation_p.K297N|PLAU_ENST00000446342.1_Missense_Mutation_p.K316N|PLAU_ENST00000372764.3_Missense_Mutation_p.K333N|C10orf55_ENST00000412307.2_Intron	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55									p.K333N(1)		endometrium(1)	1	Prostate(51;0.0112)					AGCAGCTGAAAATGACTGTTG	0.527																																																	1	Substitution - Missense(1)	kidney(1)											103.0	102.0	102.0					10																	75675037		2203	4300	6503	SO:0001627	intron_variant	5328				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.72+1239T>A	10.37:g.75675037A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q3KRG4|Q8NAK4	Missense_Mutation	SNP	ENST00000409178.1	37	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432951	0.83776	.	.	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	D;D;D	0.89270	-2.49;-2.49;-2.49	5.74	4.61	0.57282	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.047215	0.85682	D	0.000000	D	0.90212	0.6940	L	0.35644	1.08	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.992	D;D;D;D	0.97110	1.0;1.0;1.0;0.937	D	0.89549	0.3798	10	0.72032	D	0.01	.	8.2987	0.32001	0.911:0.0:0.089:0.0	.	316;297;333;333	E7ET40;E7ESM2;B2R7F2;P00749	.;.;.;UROK_HUMAN	N	316;333;297;297	ENSP00000388474:K316N;ENSP00000361850:K333N;ENSP00000361848:K297N	ENSP00000361847:K297N	K	+	3	2	PLAU	75345043	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.736000	0.26130	1.013000	0.39391	0.533000	0.62120	AAA		0.527	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1		NM_001001791	
POLD1	5424	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50918766	50918766	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr19:50918766C>A	ENST00000440232.2	+	21	2689	c.2636C>A	c.(2635-2637)tCc>tAc	p.S879Y	POLD1_ENST00000599857.1_Missense_Mutation_p.S879Y|POLD1_ENST00000595904.1_Missense_Mutation_p.S905Y|CTD-2545M3.6_ENST00000599632.1_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	879					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.S879Y(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ATCGATATCTCCCAGCTGGTC	0.682								DNA polymerases (catalytic subunits)																																									2	Substitution - Missense(2)	kidney(2)											43.0	34.0	37.0					19																	50918766		2203	4299	6502	SO:0001583	missense	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.2636C>A	19.37:g.50918766C>A	ENSP00000406046:p.Ser879Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304679	0.60305	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.19532	2.14	4.25	4.25	0.50352	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.123452	0.53938	D	0.000057	T	0.61438	0.2347	H	0.97758	4.07	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.74674	0.978;0.984	T	0.78008	-0.2372	10	0.87932	D	0	-24.5009	15.8183	0.78621	0.0:1.0:0.0:0.0	.	905;879	E7EVW0;P28340	.;DPOD1_HUMAN	Y	879;880	ENSP00000406046:S879Y	ENSP00000366129:S880Y	S	+	2	0	POLD1	55610578	0.999000	0.42202	0.985000	0.45067	0.320000	0.28249	3.641000	0.54360	2.114000	0.64651	0.450000	0.29827	TCC		0.682	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			
PTPRZ1	5803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	121651006	121651006	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr7:121651006T>A	ENST00000393386.2	+	12	2317	c.1906T>A	c.(1906-1908)Tca>Aca	p.S636T	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S636T	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	636					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S636T(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGATTCAACTTCATCAGGTTC	0.418																																																	2	Substitution - Missense(2)	kidney(2)											59.0	57.0	58.0					7																	121651006		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1906T>A	7.37:g.121651006T>A	ENSP00000377047:p.Ser636Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	T	0.277	-0.989079	0.02162	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.46063	0.89;0.88	5.65	3.19	0.36642	.	0.738507	0.12580	N	0.456487	T	0.22166	0.0534	N	0.20530	0.585	0.09310	N	1	B;B;B	0.15473	0.0;0.0;0.013	B;B;B	0.08055	0.003;0.001;0.003	T	0.14727	-1.0462	10	0.30078	T	0.28	.	0.7984	0.01070	0.1577:0.2066:0.1635:0.4721	.	636;636;636	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	T	636	ENSP00000377047:S636T;ENSP00000410000:S636T	ENSP00000377047:S636T	S	+	1	0	PTPRZ1	121438242	0.000000	0.05858	0.044000	0.18714	0.505000	0.33919	-0.063000	0.11655	0.985000	0.38656	0.533000	0.62120	TCA		0.418	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1		NM_002851	
PTPRZ1	5803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	121651023	121651023	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr7:121651023A>T	ENST00000393386.2	+	12	2334	c.1923A>T	c.(1921-1923)gaA>gaT	p.E641D	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E641D	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	641					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E641D(2)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTTCAGAAGAATCACTAAAGG	0.428																																																	2	Substitution - Missense(2)	kidney(2)											62.0	59.0	60.0					7																	121651023		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.1923A>T	7.37:g.121651023A>T	ENSP00000377047:p.Glu641Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.313959	0.23908	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.46819	0.88;0.86	5.87	-6.09	0.02145	.	0.382800	0.25329	N	0.031460	T	0.23210	0.0561	L	0.40543	1.245	0.21473	N	0.999677	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.12156	0.004;0.001;0.007	T	0.14643	-1.0465	10	0.19147	T	0.46	.	0.4777	0.00542	0.2203:0.2329:0.1713:0.3755	.	641;641;641	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	D	641	ENSP00000377047:E641D;ENSP00000410000:E641D	ENSP00000377047:E641D	E	+	3	2	PTPRZ1	121438259	0.000000	0.05858	0.876000	0.34364	0.940000	0.58332	-2.420000	0.01032	-0.533000	0.06323	0.533000	0.62120	GAA		0.428	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1		NM_002851	
RANBP6	26953	hgsc.bcm.edu;ucsc.edu	37	9	6014830	6014830	+	Missense_Mutation	SNP	C	C	T	rs530947222		TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr9:6014830C>T	ENST00000259569.5	-	1	788	c.778G>A	c.(778-780)Ggt>Agt	p.G260S	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	260					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G260S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AAATAAGGACCCAAGTACTTA	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		21871	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	kidney(1)											83.0	82.0	82.0					9																	6014830		2203	4300	6503	SO:0001583	missense	26953			AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.778G>A	9.37:g.6014830C>T	ENSP00000259569:p.Gly260Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116609	0.37339	.	.	ENSG00000137040	ENST00000259569	T	0.22134	1.97	4.54	3.63	0.41609	Armadillo-like helical (1);Armadillo-type fold (1);	0.050307	0.85682	D	0.000000	T	0.09024	0.0223	N	0.08118	0	0.29916	N	0.823164	B	0.11235	0.004	B	0.06405	0.002	T	0.14062	-1.0486	10	0.23302	T	0.38	-11.7056	6.3697	0.21475	0.0:0.6982:0.204:0.0977	.	260	O60518	RNBP6_HUMAN	S	260	ENSP00000259569:G260S	ENSP00000259569:G260S	G	-	1	0	RANBP6	6004830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.668000	0.54554	1.495000	0.48549	0.655000	0.94253	GGT		0.443	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1		NM_012416	
RNF40	9810	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30774777	30774777	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr16:30774777G>T	ENST00000324685.6	+	4	774	c.339G>T	c.(337-339)gaG>gaT	p.E113D	C16orf93_ENST00000541260.1_5'Flank|RNF40_ENST00000357890.5_Missense_Mutation_p.E113D|RNF40_ENST00000402121.3_Intron|C16orf93_ENST00000545825.1_5'Flank|C16orf93_ENST00000543610.1_5'Flank|RNF40_ENST00000563683.1_Missense_Mutation_p.E113D	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	113					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E113D(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GATGCCATGAGAGCCAGGGGG	0.542																																																	1	Substitution - Missense(1)	kidney(1)											71.0	71.0	71.0					16																	30774777		2197	4300	6497	SO:0001583	missense	9810			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.339G>T	16.37:g.30774777G>T	ENSP00000325677:p.Glu113Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	G	4.659	0.122547	0.08931	.	.	ENSG00000103549	ENST00000324685;ENST00000357890	T;T	0.27104	1.69;1.75	5.84	3.88	0.44766	.	0.103672	0.64402	D	0.000004	T	0.21267	0.0512	N	0.04724	-0.175	0.80722	D	1	D;B;B	0.56035	0.974;0.001;0.001	D;B;B	0.67725	0.953;0.003;0.003	T	0.10753	-1.0616	10	0.02654	T	1	-25.6181	10.4911	0.44752	0.158:0.0:0.842:0.0	.	113;113;113	O75150-4;A8K6K1;O75150	.;.;BRE1B_HUMAN	D	113	ENSP00000325677:E113D;ENSP00000350563:E113D	ENSP00000325677:E113D	E	+	3	2	RNF40	30682278	1.000000	0.71417	0.929000	0.37066	0.594000	0.36715	2.032000	0.41127	0.809000	0.34255	-0.251000	0.11542	GAG		0.542	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2		NM_014771	
RNPEPL1	57140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	241516160	241516160	+	Silent	SNP	G	G	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr2:241516160G>A	ENST00000270357.4	+	9	1619	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	342					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L342L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		ACCGGCTCCTGGATGGGTCCC	0.692																																																	1	Substitution - coding silent(1)	kidney(1)											27.0	32.0	30.0					2																	241516160		2197	4286	6483	SO:0001819	synonymous_variant	57140					2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.1026G>A	2.37:g.241516160G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Silent	SNP	ENST00000270357.4	37																																																																																					0.692	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257190.4		NM_018226	
ROCK1	6093	hgsc.bcm.edu;ucsc.edu	37	18	18629104	18629105	+	Frame_Shift_Ins	INS	-	-	A	rs35810558		TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr18:18629104_18629105insA	ENST00000399799.2	-	4	1302_1303	c.362_363insT	c.(361-363)ttcfs	p.F121fs		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTTCTTCCCAGAAAAAAGCAGA	0.361																																																	0																																										SO:0001589	frameshift_variant	6093				CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.363dupT	18.37:g.18629110_18629110dupA	ENSP00000382697:p.Phe121fs	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ91|Q2KHM4|Q59GZ4	Frame_Shift_Ins	INS	ENST00000399799.2	37	CCDS11870.2																																																																																				0.361	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2		NM_005406	
RPL22	6146	hgsc.bcm.edu	37	1	6246851	6246852	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr1:6246851_6246852insT	ENST00000234875.4	-	4	305_306	c.267_268insA	c.(265-270)aaatatfs	p.Y90fs	RPL22_ENST00000484532.1_Intron|RPL22_ENST00000497965.1_Frame_Shift_Ins_p.Y57fs	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	90					alpha-beta T cell differentiation (GO:0046632)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	heparin binding (GO:0008201)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K89fs*3(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TTCTTCAAATATTTTTTGGTGA	0.366			T	RUNX1	"""AML, CML"""																																			Dom	yes		1	1p36.31	6146	ribosomal protein L22 (EAP)		L	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	6146			BC058887	CCDS58.1	1p36.31	2011-04-06			ENSG00000116251	ENSG00000116251		"""L ribosomal proteins"""	10315	protein-coding gene	gene with protein product		180474				8395054	Standard	NM_000983		Approved	EAP, L22	uc001amd.3	P35268	OTTHUMG00000000953	ENST00000234875.4:c.268dupA	1.37:g.6246857_6246857dupT	ENSP00000346088:p.Tyr90fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R495|Q6IBD1	Frame_Shift_Ins	INS	ENST00000234875.4	37	CCDS58.1																																																																																				0.366	RPL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002830.1		NM_000983	
SEC16A	9919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	139369367	139369367	+	Missense_Mutation	SNP	T	T	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr9:139369367T>A	ENST00000371706.3	-	1	2200	c.2167A>T	c.(2167-2169)Agt>Tgt	p.S723C	SEC16A_ENST00000313050.7_Missense_Mutation_p.S901C|SEC16A_ENST00000431893.2_Missense_Mutation_p.S723C|SEC16A_ENST00000290037.6_Missense_Mutation_p.S723C			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	723					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.S901C(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGGGCAACACTGCTAGGCAGA	0.502																																																	2	Substitution - Missense(2)	kidney(2)											55.0	56.0	55.0					9																	139369367		1963	4155	6118	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2167A>T	9.37:g.139369367T>A	ENSP00000360771:p.Ser723Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37		.	.	.	.	.	.	.	.	.	.	T	16.94	3.260877	0.59431	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.26660	1.79;1.72;1.73;1.73	5.35	-1.54	0.08584	.	1.232250	0.05063	N	0.480132	T	0.22399	0.0540	L	0.54323	1.7	0.09310	N	1	B;B;B	0.21071	0.03;0.051;0.051	B;B;B	0.19391	0.011;0.025;0.025	T	0.36187	-0.9758	10	0.56958	D	0.05	-0.4117	2.3371	0.04251	0.2331:0.0684:0.258:0.4405	.	901;723;723	F1T0I1;O15027-5;O15027-4	.;.;.	C	901;723;723;723	ENSP00000325827:S901C;ENSP00000360771:S723C;ENSP00000290037:S723C;ENSP00000387583:S723C	ENSP00000290037:S723C	S	-	1	0	SEC16A	138489188	0.000000	0.05858	0.000000	0.03702	0.440000	0.31957	0.181000	0.16880	-0.186000	0.10533	0.533000	0.62120	AGT		0.502	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1		XM_088459	
SERPINA12	145264	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94964360	94964360	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr14:94964360C>A	ENST00000341228.2	-	3	1170	c.375G>T	c.(373-375)caG>caT	p.Q125H	SERPINA12_ENST00000556881.1_Missense_Mutation_p.Q125H	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	125					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q125H(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CCTGGGTCTTCTGGGTCAGCT	0.488																																																	1	Substitution - Missense(1)	kidney(1)											160.0	156.0	157.0					14																	94964360		2203	4300	6503	SO:0001583	missense	145264			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.375G>T	14.37:g.94964360C>A	ENSP00000342109:p.Gln125His	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000341228.2	37	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	3.265	-0.150409	0.06585	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.84730	-1.89;-1.89	5.49	2.25	0.28309	Serpin domain (3);	0.000000	0.56097	D	0.000025	T	0.75752	0.3892	L	0.52759	1.655	0.09310	N	1	B	0.31730	0.337	B	0.25987	0.065	T	0.65981	-0.6036	10	0.48119	T	0.1	.	4.6879	0.12767	0.0:0.4778:0.1649:0.3573	.	125	Q8IW75	SPA12_HUMAN	H	125	ENSP00000451738:Q125H;ENSP00000342109:Q125H	ENSP00000342109:Q125H	Q	-	3	2	SERPINA12	94034113	0.000000	0.05858	0.283000	0.24790	0.005000	0.04900	-0.536000	0.06135	0.697000	0.31718	-0.140000	0.14226	CAG		0.488	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1		NM_173850	
SLC44A5	204962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	75708659	75708659	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr1:75708659T>C	ENST00000370855.5	-	8	496	c.383A>G	c.(382-384)tAt>tGt	p.Y128C	SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000370859.3_Missense_Mutation_p.Y128C	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	128					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y128C(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CATTTCCACATAGGTTAAAAA	0.403																																																	1	Substitution - Missense(1)	kidney(1)											111.0	114.0	113.0					1																	75708659		2202	4300	6502	SO:0001583	missense	204962			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.383A>G	1.37:g.75708659T>C	ENSP00000359892:p.Tyr128Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	CCDS667.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516655	0.64634	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535790	T;T	0.16743	2.32;2.32	5.07	3.87	0.44632	.	0.201598	0.44285	D	0.000477	T	0.31513	0.0799	M	0.84511	2.7	0.80722	D	1	D;D;D;D;D	0.71674	0.997;0.993;0.993;0.998;0.996	P;P;P;D;D	0.67382	0.894;0.848;0.894;0.951;0.927	T	0.09997	-1.0649	10	0.48119	T	0.1	-15.8839	10.8497	0.46763	0.1409:0.0:0.0:0.8591	.	122;167;128;128;167	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	C	128;167;128;121	ENSP00000359896:Y128C;ENSP00000359892:Y128C	ENSP00000359892:Y128C	Y	-	2	0	SLC44A5	75481247	0.997000	0.39634	0.889000	0.34880	0.680000	0.39746	2.671000	0.46842	2.028000	0.59812	0.533000	0.62120	TAT		0.403	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1		NM_152697	
SLCO1B1	10599	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21331930	21331930	+	Missense_Mutation	SNP	G	G	A	rs147421160		TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr12:21331930G>A	ENST00000256958.2	+	7	799	c.703G>A	c.(703-705)Gtg>Atg	p.V235M		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	235					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.V235M(1)|p.V235L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TAAAATGTACGTGGATATTGG	0.328																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)						G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	110.0	110.0	110.0		703	3.8	0.9	12	dbSNP_134	110	0,8594		0,0,4297	no	missense	SLCO1B1	NM_006446.4	21	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	235/692	21331930	1,12999	2203	4297	6500	SO:0001583	missense	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.703G>A	12.37:g.21331930G>A	ENSP00000256958:p.Val235Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654045	0.67472	2.27E-4	0.0	ENSG00000134538	ENST00000256958	T	0.47177	0.85	3.76	3.76	0.43208	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.059223	0.64402	D	0.000002	T	0.70307	0.3209	M	0.82193	2.58	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	T	0.75631	-0.3251	10	0.51188	T	0.08	.	16.1164	0.81306	0.0:0.0:1.0:0.0	.	235	Q9Y6L6	SO1B1_HUMAN	M	235	ENSP00000256958:V235M	ENSP00000256958:V235M	V	+	1	0	SLCO1B1	21223197	1.000000	0.71417	0.925000	0.36789	0.709000	0.40893	9.046000	0.93817	2.096000	0.63516	0.305000	0.20034	GTG		0.328	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1		NM_006446	
SPNS1	83985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28993800	28993800	+	Silent	SNP	C	C	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr16:28993800C>T	ENST00000311008.11	+	8	1466	c.1089C>T	c.(1087-1089)ctC>ctT	p.L363L	RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Silent_p.L408L|LAT_ENST00000566177.1_5'Flank|SPNS1_ENST00000352260.7_Silent_p.L289L|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000454369.2_5'Flank|LAT_ENST00000360872.5_5'Flank|SPNS1_ENST00000334536.8_Silent_p.L311L|LAT_ENST00000354453.4_5'Flank|SPNS1_ENST00000323081.8_Silent_p.L290L|LAT_ENST00000564277.1_5'Flank	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	363					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)		p.L363L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCACTGGCCTCCTGGGCTCTG	0.667																																																	1	Substitution - coding silent(1)	kidney(1)											81.0	77.0	79.0					16																	28993800		2197	4300	6497	SO:0001819	synonymous_variant	83985			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1089C>T	16.37:g.28993800C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Silent	SNP	ENST00000311008.11	37	CCDS10646.1																																																																																				0.667	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2		NM_032038	
TAF5L	27097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	229730773	229730773	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr1:229730773G>C	ENST00000366676.1	-	4	1040	c.1041C>G	c.(1039-1041)agC>agG	p.S347R	TAF5L_ENST00000258281.2_Missense_Mutation_p.S347R			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	347					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.S347R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GGAACCTCGTGCTGTACACTG	0.537																																																	1	Substitution - Missense(1)	kidney(1)											107.0	96.0	100.0					1																	229730773		2203	4300	6503	SO:0001583	missense	27097			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1041C>G	1.37:g.229730773G>C	ENSP00000355636:p.Ser347Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	G	9.517	1.107337	0.20714	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.65732	-0.17;-0.17	5.88	2.48	0.30137	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.201698	0.64402	N	0.000013	T	0.56891	0.2016	M	0.74647	2.275	0.34059	D	0.65701	B	0.09022	0.002	B	0.12156	0.007	T	0.60342	-0.7282	10	0.39692	T	0.17	-13.9309	6.9522	0.24552	0.1489:0.0:0.5842:0.2669	.	347	O75529	TAF5L_HUMAN	R	347	ENSP00000355636:S347R;ENSP00000258281:S347R	ENSP00000258281:S347R	S	-	3	2	TAF5L	227797396	1.000000	0.71417	0.995000	0.50966	0.897000	0.52465	3.279000	0.51670	0.773000	0.33404	0.655000	0.94253	AGC		0.537	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1		NM_014409	
TFDP2	7029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	141692908	141692908	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr3:141692908C>G	ENST00000489671.1	-	8	1075	c.645G>C	c.(643-645)caG>caC	p.Q215H	TFDP2_ENST00000499676.2_Missense_Mutation_p.Q155H|TFDP2_ENST00000486111.1_Missense_Mutation_p.Q155H|TFDP2_ENST00000495310.1_Missense_Mutation_p.Q118H|TFDP2_ENST00000310282.6_Missense_Mutation_p.Q155H|TFDP2_ENST00000467072.1_Missense_Mutation_p.Q155H|TFDP2_ENST00000479040.1_Missense_Mutation_p.Q154H|TFDP2_ENST00000477292.1_Missense_Mutation_p.Q79H|TFDP2_ENST00000397991.4_Missense_Mutation_p.Q187H|TFDP2_ENST00000317104.7_Missense_Mutation_p.Q139H			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	215					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.Q215H(1)		kidney(1)|upper_aerodigestive_tract(2)	3						TCTGACATTCCTGAGCAGAAT	0.318																																																	1	Substitution - Missense(1)	kidney(1)											90.0	84.0	86.0					3																	141692908		1848	4123	5971	SO:0001583	missense	7029			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.645G>C	3.37:g.141692908C>G	ENSP00000420616:p.Gln215His	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Missense_Mutation	SNP	ENST00000489671.1	37	CCDS54650.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468579	0.63625	.	.	ENSG00000114126	ENST00000499676;ENST00000489671;ENST00000486111;ENST00000477292;ENST00000495310;ENST00000467072;ENST00000317104;ENST00000310282;ENST00000479040;ENST00000397991;ENST00000467667;ENST00000478006;ENST00000497579	T;T;T;T;T;T;T;T;T;T;T;T	0.51325	1.69;1.65;1.69;0.74;0.71;1.69;1.71;1.69;1.69;1.67;1.37;1.37	5.77	4.79	0.61399	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor DP, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72669	0.3489	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.989	D;D;D	0.79784	0.993;0.993;0.976	T	0.78109	-0.2332	10	0.87932	D	0	-5.3515	13.299	0.60313	0.0:0.8967:0.0:0.1033	.	118;215;155	B7Z8L5;Q14188;Q14188-5	.;TFDP2_HUMAN;.	H	155;215;155;79;118;155;139;155;154;187;155;129;154	ENSP00000439782:Q155H;ENSP00000420616:Q215H;ENSP00000420599:Q155H;ENSP00000418971:Q79H;ENSP00000419036:Q118H;ENSP00000418590:Q155H;ENSP00000315668:Q139H;ENSP00000309622:Q155H;ENSP00000417585:Q154H;ENSP00000381078:Q187H;ENSP00000417726:Q155H;ENSP00000417220:Q154H	ENSP00000309622:Q155H	Q	-	3	2	TFDP2	143175598	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	0.642000	0.24735	2.720000	0.93068	0.557000	0.71058	CAG		0.318	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4		NM_006286	
TFDP3	51270	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	132352095	132352095	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chrX:132352095G>A	ENST00000310125.4	-	1	281	c.193C>T	c.(193-195)Cca>Tca	p.P65S		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	65					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P65S(1)|p.P5S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GATGCTGCTGGTCTCTGAGGC	0.552																																																	2	Substitution - Missense(2)	kidney(2)											112.0	91.0	98.0					X																	132352095		2203	4300	6503	SO:0001583	missense	51270			AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.193C>T	X.37:g.132352095G>A	ENSP00000385461:p.Pro65Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6DK49|Q9NZ54	Missense_Mutation	SNP	ENST00000310125.4	37	CCDS14636.2	.	.	.	.	.	.	.	.	.	.	G	6.972	0.549309	0.13374	.	.	ENSG00000183434	ENST00000310125	T	0.21932	1.98	0.235	0.235	0.15431	.	.	.	.	.	T	0.14313	0.0346	L	0.43923	1.385	0.36989	D	0.894701	B	0.23442	0.085	B	0.22601	0.04	T	0.14839	-1.0458	9	0.20519	T	0.43	.	6.1977	0.20559	3.0E-4:0.0:0.9996:0.0	.	65	Q5H9I0	TFDP3_HUMAN	S	65	ENSP00000385461:P65S	ENSP00000385461:P65S	P	-	1	0	TFDP3	132179761	1.000000	0.71417	0.072000	0.20136	0.073000	0.16967	1.837000	0.39201	0.288000	0.22398	0.292000	0.19580	CCA		0.552	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058337.1		NM_016521	
UBR1	197131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43281101	43281101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr15:43281101C>A	ENST00000290650.4	-	35	3991	c.3913G>T	c.(3913-3915)Gga>Tga	p.G1305*	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1305					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G1305*(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACTTTCAATCCAATTCTATAA	0.368																																																	1	Substitution - Nonsense(1)	kidney(1)											91.0	89.0	90.0					15																	43281101		2203	4299	6502	SO:0001587	stop_gained	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.3913G>T	15.37:g.43281101C>A	ENSP00000290650:p.Gly1305*	Somatic		WXS	Illumina HiSeq	Phase_I	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Nonsense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	42	9.359525	0.99148	.	.	ENSG00000159459	ENST00000290650	.	.	.	4.98	4.98	0.66077	.	0.059719	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-22.2156	18.4342	0.90638	0.0:1.0:0.0:0.0	.	.	.	.	X	1305	.	ENSP00000290650:G1305X	G	-	1	0	UBR1	41068393	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.875000	0.75551	2.569000	0.86673	0.591000	0.81541	GGA		0.368	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1		NM_174916	
ZDHHC9	51114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	128962964	128962964	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chrX:128962964C>T	ENST00000357166.6	-	4	712	c.321G>A	c.(319-321)atG>atA	p.M107I	ZDHHC9_ENST00000371064.3_Missense_Mutation_p.M107I	NM_016032.3	NP_057116.2	Q9Y397	ZDHC9_HUMAN	zinc finger, DHHC-type containing 9	107					peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|palmitoyltransferase complex (GO:0002178)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|Ras palmitoyltransferase activity (GO:0043849)|zinc ion binding (GO:0008270)	p.M107I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						CACCTATCTCCATTTCTATGA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											130.0	117.0	122.0					X																	128962964		2203	4300	6503	SO:0001583	missense	51114			AF151847	CCDS35395.1	Xq26.1	2008-02-05			ENSG00000188706	ENSG00000188706		"""Zinc fingers, DHHC-type"""	18475	protein-coding gene	gene with protein product		300646	"""zinc finger, DHHC-type containing 10"", ""chromosome X open reading frame 11"""	ZDHHC10, CXorf11		10810093	Standard	NM_001008222		Approved	ZNF379, CGI-89, ZNF380	uc004euw.3	Q9Y397	OTTHUMG00000022375	ENST00000357166.6:c.321G>A	X.37:g.128962964C>T	ENSP00000349689:p.Met107Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B4F6G2|D3DTF9|Q59EK4|Q5JSW5|Q8WWS7|Q9BPY4|Q9NSP0|Q9NVL0|Q9NVR6	Missense_Mutation	SNP	ENST00000357166.6	37	CCDS35395.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.185533|4.185533	0.78677|0.78677	.|.	.|.	ENSG00000188706|ENSG00000188706	ENST00000357166;ENST00000371064;ENST00000406492|ENST00000433917	T;T;T|.	0.62364|.	1.21;1.21;0.03|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.147080|.	0.85682|.	D|.	0.000000|.	T|.	0.45577|.	0.1349|.	N|N	0.05177|0.05177	-0.1|-0.1	0.80722|0.80722	D|D	1|1	P|.	0.34837|.	0.472|.	P|.	0.47915|.	0.561|.	T|.	0.43669|.	-0.9377|.	10|.	0.35671|.	T|.	0.21|.	-20.2919|-20.2919	18.8546|18.8546	0.92246|0.92246	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	107|.	Q9Y397|.	ZDHC9_HUMAN|.	I|X	107|67	ENSP00000349689:M107I;ENSP00000360103:M107I;ENSP00000383991:M107I|.	ENSP00000349689:M107I|.	M|W	-|-	3|2	0|0	ZDHHC9|ZDHHC9	128790645|128790645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	5.754000|5.754000	0.68743|0.68743	2.399000|2.399000	0.81585|0.81585	0.594000|0.594000	0.82650|0.82650	ATG|TGG		0.468	ZDHHC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058213.1		NM_016032	
ZNF100	163227	hgsc.bcm.edu;ucsc.edu	37	19	21910711	21910712	+	Frame_Shift_Ins	INS	-	-	T	rs377709566		TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr19:21910711_21910712insT	ENST00000358296.6	-	5	600_601	c.402_403insA	c.(400-405)aaatatfs	p.Y135fs	ZNF100_ENST00000305570.6_Frame_Shift_Ins_p.Y71fs	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	135					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TATTTTCCATATTTTTTCAGAA	0.327																																																	0																																										SO:0001589	frameshift_variant	163227			BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.403dupA	19.37:g.21910717_21910717dupT	ENSP00000351042:p.Tyr135fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q7M4M0	Frame_Shift_Ins	INS	ENST00000358296.6	37	CCDS42538.1																																																																																				0.327	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1		NM_173531	
ZNF395	55893	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	28209116	28209116	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr8:28209116A>T	ENST00000344423.5	-	7	1260	c.1129T>A	c.(1129-1131)Tcc>Acc	p.S377T	ZNF395_ENST00000523202.1_Missense_Mutation_p.S377T|ZNF395_ENST00000523095.1_Missense_Mutation_p.S377T	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S377T(1)		cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TCTGGGCCGGAGGACTGGGCT	0.637																																																	1	Substitution - Missense(1)	kidney(1)											65.0	74.0	71.0					8																	28209116		2203	4300	6503	SO:0001583	missense	55893			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1129T>A	8.37:g.28209116A>T	ENSP00000340494:p.Ser377Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Missense_Mutation	SNP	ENST00000344423.5	37	CCDS6067.1	.	.	.	.	.	.	.	.	.	.	A	1.618	-0.522364	0.04141	.	.	ENSG00000186918	ENST00000344423;ENST00000523202;ENST00000523095	T;T;T	0.45668	0.89;0.89;0.89	4.99	2.56	0.30785	.	0.864008	0.10551	N	0.661434	T	0.31009	0.0783	L	0.46157	1.445	0.38304	D	0.943072	B	0.16396	0.017	B	0.10450	0.005	T	0.16217	-1.0410	10	0.24483	T	0.36	-7.7505	3.0715	0.06233	0.6367:0.0:0.1858:0.1775	.	377	Q9H8N7	ZN395_HUMAN	T	377	ENSP00000340494:S377T;ENSP00000429640:S377T;ENSP00000428452:S377T	ENSP00000340494:S377T	S	-	1	0	ZNF395	28265035	0.008000	0.16893	0.013000	0.15412	0.032000	0.12392	0.480000	0.22244	0.368000	0.24481	0.533000	0.62120	TCC		0.637	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219976.1			
AEBP2	121536	broad.mit.edu	37	12	19593226	19593226	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr12:19593226C>A	ENST00000398864.3	+	1	619	c.593C>A	c.(592-594)gCg>gAg	p.A198E	AEBP2_ENST00000266508.9_Missense_Mutation_p.A198E|AEBP2_ENST00000360995.4_5'Flank|AEBP2_ENST00000541908.1_Intron	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	198	Gly-rich.|Ser-rich.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)	p.A198E(1)		ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					ggaagcagcgCGACCTCCGGG	0.721																																																	1	Substitution - Missense(1)	kidney(1)											18.0	22.0	20.0					12																	19593226		1667	3762	5429	SO:0001583	missense	121536				CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.593C>A	12.37:g.19593226C>A	ENSP00000381840:p.Ala198Glu	Somatic		WXS	Illumina GAIIx	Phase_I	Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	ENST00000398864.3	37	CCDS44841.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749872	0.49257	.	.	ENSG00000139154	ENST00000398864;ENST00000435841;ENST00000266508	T;T	0.69435	-0.22;-0.4	3.8	3.8	0.43715	.	.	.	.	.	T	0.44644	0.1303	N	0.08118	0	0.80722	D	1	P	0.38827	0.649	B	0.37015	0.239	T	0.41574	-0.9501	9	0.19147	T	0.46	-0.8162	14.0316	0.64619	0.0:1.0:0.0:0.0	.	198	Q6ZN18	AEBP2_HUMAN	E	198;132;198	ENSP00000381840:A198E;ENSP00000266508:A198E	ENSP00000266508:A198E	A	+	2	0	AEBP2	19484493	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.359000	0.34113	1.932000	0.55993	0.511000	0.50034	GCG		0.721	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1		NM_153207	
CELA3B	23436	broad.mit.edu	37	1	22310726	22310726	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr1:22310726G>A	ENST00000337107.6	+	6	563	c.544G>A	c.(544-546)Gtg>Atg	p.V182M		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	182	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.V182M(1)		breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CCTGCTGCCGGTGGTGGACTA	0.627																																																	1	Substitution - Missense(1)	kidney(1)											82.0	79.0	80.0					1																	22310726		2203	4300	6503	SO:0001583	missense	23436			M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.544G>A	1.37:g.22310726G>A	ENSP00000338369:p.Val182Met	Somatic		WXS	Illumina GAIIx	Phase_I	B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP	ENST00000337107.6	37	CCDS219.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374955	0.61735	.	.	ENSG00000219073	ENST00000337107;ENST00000400277	D;D	0.90563	-2.69;-2.69	4.53	4.53	0.55603	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.94522	0.8236	M	0.75150	2.29	0.58432	D	0.999992	D	0.61080	0.989	D	0.68943	0.961	D	0.95178	0.8296	10	0.87932	D	0	-19.876	15.0932	0.72211	0.0:0.0:1.0:0.0	.	182	P08861	CEL3B_HUMAN	M	182;85	ENSP00000338369:V182M;ENSP00000383135:V85M	ENSP00000338369:V182M	V	+	1	0	CELA3B	22183313	1.000000	0.71417	0.976000	0.42696	0.313000	0.28021	5.358000	0.66064	2.232000	0.73038	0.650000	0.86243	GTG		0.627	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007797.1		NM_007352	
COL7A1	1294	broad.mit.edu	37	3	48612153	48612153	+	Splice_Site	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr3:48612153C>A	ENST00000328333.8	-	77	6457	c.6350G>T	c.(6349-6351)gGg>gTg	p.G2117V	COL7A1_ENST00000454817.1_Splice_Site_p.G2085V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2117	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.G2117V(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCCGGCTCCCCCTGTGGGGA	0.607																																																	1	Substitution - Missense(1)	kidney(1)											62.0	63.0	63.0					3																	48612153		2203	4299	6502	SO:0001630	splice_region_variant	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6349-1G>T	3.37:g.48612153C>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433524	0.43224	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99353	-5.77;-5.77	5.29	5.29	0.74685	.	0.000000	0.41097	D	0.000952	D	0.99670	0.9877	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97472	1.0041	10	0.72032	D	0.01	.	17.9122	0.88937	0.0:1.0:0.0:0.0	.	2117	Q02388	CO7A1_HUMAN	V	2117;2085	ENSP00000332371:G2117V;ENSP00000412569:G2085V	ENSP00000332371:G2117V	G	-	2	0	COL7A1	48587157	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	6.307000	0.72815	2.456000	0.83038	0.462000	0.41574	GGG		0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094	Missense_Mutation
ESPNP	284729	broad.mit.edu	37	1	17033858	17033858	+	RNA	SNP	C	C	T	rs554871742	byFrequency	TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr1:17033858C>T	ENST00000492551.1	-	0	620					NR_026567.1				espin pseudogene																		CGGCCGCGTACCCGTCGCGGT	0.687													c|||	29	0.00579073	0.0219	0.0	5008	,	,		31624	0.0		0.0	False		,,,				2504	0.0																0																																												284729			AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17033858C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000492551.1	37																																																																																					0.687	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			
FOXO1	2308	broad.mit.edu	37	13	41134652	41134652	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr13:41134652C>G	ENST00000379561.5	-	2	1360	c.976G>C	c.(976-978)Ggg>Cgg	p.G326R	FOXO1_ENST00000473775.1_5'Flank	NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	326	Sufficient for interaction with NLK. {ECO:0000250}.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blood vessel development (GO:0001568)|cellular glucose homeostasis (GO:0001678)|cellular response to cold (GO:0070417)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hyperoxia (GO:0071455)|cellular response to insulin stimulus (GO:0032869)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular response to starvation (GO:0009267)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|regulation of cell proliferation (GO:0042127)|regulation of energy homeostasis (GO:2000505)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|protein phosphatase 2A binding (GO:0051721)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.G326R(2)	PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GAGAGTCTCCCACTAATAGTA	0.483																																																	2	Substitution - Missense(2)	kidney(2)											139.0	122.0	128.0					13																	41134652		2203	4300	6503	SO:0001583	missense	2308				CCDS9371.1	13q14.1	2011-08-01	2007-05-02	2007-05-02	ENSG00000150907	ENSG00000150907		"""Forkhead boxes"""	3819	protein-coding gene	gene with protein product		136533	"""forkhead homolog in rhabdomyosarcoma"""	FKHR, FOXO1A		8275086, 15057823	Standard	NM_002015		Approved	FKH1	uc001uxl.4	Q12778	OTTHUMG00000016775	ENST00000379561.5:c.976G>C	13.37:g.41134652C>G	ENSP00000368880:p.Gly326Arg	Somatic		WXS	Illumina GAIIx	Phase_I	O43523|Q5VYC7|Q6NSK6	Missense_Mutation	SNP	ENST00000379561.5	37	CCDS9371.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802740	0.70682	.	.	ENSG00000150907	ENST00000379561	D	0.96300	-3.97	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99229	1.0881	10	0.87932	D	0	-15.49	18.6061	0.91266	0.0:1.0:0.0:0.0	.	300;326	F8TAD1;Q12778	.;FOXO1_HUMAN	R	326	ENSP00000368880:G326R	ENSP00000368880:G326R	G	-	1	0	FOXO1	40032652	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	7.487000	0.81328	2.653000	0.90120	0.563000	0.77884	GGG		0.483	FOXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044634.3		NM_002015	
Unknown	0	broad.mit.edu	37	7	28319099	28319099	+	IGR	SNP	C	C	T			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr7:28319099C>T								JAZF1-AS1 (35563 upstream) : CREB5 (19840 downstream)																							GACTTGCCACCAGTGCCATTA	0.453																																																	0													18.0	17.0	18.0					7																	28319099		692	1591	2283	SO:0001628	intergenic_variant	402644																															7.37:g.28319099C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.453									
MAX	4149	broad.mit.edu	37	14	65569055	65569055	+	Start_Codon_SNP	SNP	C	C	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr14:65569055C>A	ENST00000358664.4	-	1	133	c.3G>T	c.(1-3)atG>atT	p.M1I	MAX_ENST00000555932.1_Start_Codon_SNP_p.M1I|MAX_ENST00000358402.4_Start_Codon_SNP_p.M1I|MAX_ENST00000556443.1_Start_Codon_SNP_p.M1I|MAX_ENST00000246163.2_Start_Codon_SNP_p.M1I|MAX_ENST00000341653.2_Start_Codon_SNP_p.M1I|MAX_ENST00000284165.6_Start_Codon_SNP_p.M1I|MAX_ENST00000556979.1_Start_Codon_SNP_p.M1I|MAX_ENST00000557277.1_Intron|MAX_ENST00000555667.1_Start_Codon_SNP_p.M1I|MAX_ENST00000555419.1_Start_Codon_SNP_p.M1I|MAX_ENST00000557746.1_Start_Codon_SNP_p.M1I	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	1					cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.M1I(3)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		CGTTATCGCTCATTTCCTACG	0.667																																																	3	Substitution - Missense(3)	kidney(3)											64.0	54.0	57.0					14																	65569055		2203	4300	6503	SO:0001582	initiator_codon_variant	4149				CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.3G>T	14.37:g.65569055C>A	ENSP00000351490:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_I	A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	CCDS9771.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603606	0.87157	.	.	ENSG00000125952	ENST00000341653;ENST00000358402;ENST00000555932;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443;ENST00000246163	D;D;D;D;D;D;D;D;D;D	0.99515	-3.94;-4.32;-4.13;-4.25;-3.75;-6.06;-4.1;-4.22;-4.22;-3.77	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	.	.	.	0.80722	D	1	P;D;D;D;D;D;P;P	0.76494	0.954;0.964;0.984;0.993;0.999;0.986;0.848;0.816	D;D;P;P;D;D;P;P	0.70716	0.943;0.958;0.842;0.714;0.97;0.93;0.648;0.746	D	0.98378	1.0557	9	0.87932	D	0	-13.7892	15.3555	0.74423	0.0:1.0:0.0:0.0	.	1;1;1;1;1;1;1;1	G3V2N4;Q96CY8;Q14803;Q6V3B1;P61244-2;P61244;P61244-3;A6NH73	.;.;.;.;.;MAX_HUMAN;.;.	I	1	ENSP00000342482:M1I;ENSP00000351175:M1I;ENSP00000284165:M1I;ENSP00000351490:M1I;ENSP00000452405:M1I;ENSP00000452378:M1I;ENSP00000452286:M1I;ENSP00000452197:M1I;ENSP00000450818:M1I;ENSP00000246163:M1I	ENSP00000246163:M1I	M	-	3	0	MAX	64638808	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.575000	0.67430	2.422000	0.82143	0.585000	0.79938	ATG		0.667	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1		NM_197957	Missense_Mutation
PHLPP1	23239	broad.mit.edu	37	18	60646514	60646514	+	Silent	SNP	G	G	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr18:60646514G>A	ENST00000262719.5	+	17	5238	c.5004G>A	c.(5002-5004)ccG>ccA	p.P1668P	PHLPP1_ENST00000400316.4_Silent_p.P1156P			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1668					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.P1668P(2)|p.P1155P(1)		endometrium(2)|kidney(2)|lung(13)	17						TCATACCCCCGGAGCTGGAAG	0.582																																																	3	Substitution - coding silent(3)	kidney(3)											10.0	11.0	11.0					18																	60646514		2056	4218	6274	SO:0001819	synonymous_variant	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.5004G>A	18.37:g.60646514G>A		Somatic		WXS	Illumina GAIIx	Phase_I	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Silent	SNP	ENST00000262719.5	37	CCDS45881.2																																																																																				0.582	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2		NM_194449	
PKD1L2	114780	broad.mit.edu	37	16	81183400	81183400	+	RNA	SNP	C	C	A	rs372988572	byFrequency	TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr16:81183400C>A	ENST00000525539.1	-	0	4647				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.V1550F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACCCTCTGGACGCGGGTGAAG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											41.0	43.0	42.0					16																	81183400		1969	4153	6122			114780			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81183400C>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37																																																																																					0.587	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			
TMIGD2	126259	broad.mit.edu	37	19	4294619	4294619	+	Silent	SNP	A	A	C			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr19:4294619A>C	ENST00000301272.2	-	4	552	c.507T>G	c.(505-507)ggT>ggG	p.G169G	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000595645.1_Silent_p.G169G|TMIGD2_ENST00000600114.1_Silent_p.G49G	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	169					positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytokine production (GO:0001819)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.G169G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAACCAGGCACCCCACACGA	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											118.0	141.0	133.0					19																	4294619		2203	4300	6503	SO:0001819	synonymous_variant	126259			BC015655	CCDS12126.1, CCDS59334.1	19p13.3	2014-02-12	2006-07-05					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28324	protein-coding gene	gene with protein product		614715					Standard	NM_144615		Approved	MGC23244	uc002lzx.2	Q96BF3		ENST00000301272.2:c.507T>G	19.37:g.4294619A>C		Somatic		WXS	Illumina GAIIx	Phase_I	Q6UW59	Silent	SNP	ENST00000301272.2	37	CCDS12126.1																																																																																				0.627	TMIGD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458088.1		NM_144615	
ZAN	7455	broad.mit.edu	37	7	100395076	100395076	+	RNA	SNP	G	G	A			TCGA-CJ-4913-01A-01D-1429-08	TCGA-CJ-4913-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0635f266-c4be-45ea-8347-455ef7ad5648	78e819a5-4d61-478c-8e72-cc6d596f487f	g.chr7:100395076G>A	ENST00000348028.3	+	0	8246				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T2693T(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTTACAGAACGAGGAGGAAGA	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											77.0	72.0	73.0					7																	100395076		1984	4150	6134			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100395076G>A		Somatic		WXS	Illumina GAIIx	Phase_I	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	ENST00000348028.3	37																																																																																					0.617	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1		NM_003386	
