#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
MYO3A	53904	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	26285470	26285470	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr10:26285470G>A	ENST00000265944.5	+	5	521	c.355G>A	c.(355-357)Ggt>Agt	p.G119S	MYO3A_ENST00000543632.1_Missense_Mutation_p.G119S|MYO3A_ENST00000376302.1_Missense_Mutation_p.G119S|MYO3A_ENST00000376301.1_Missense_Mutation_p.G119S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCTGAAGAGGGGTGAAAGAAT	0.353																																																0													125.0	121.0	123.0					10																	26285470		2203	4300	6503	SO:0001583	missense	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.355G>A	10.37:g.26285470G>A	ENSP00000265944:p.Gly119Ser		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963143	0.92791	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632;ENST00000376301	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.49	4.59	0.56863	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.046372	0.85682	D	0.000000	T	0.70500	0.3231	L	0.36672	1.1	0.80722	D	1	D;D;D;P	0.89917	0.999;1.0;1.0;0.818	D;D;D;P	0.91635	0.999;0.999;0.996;0.784	T	0.73177	-0.4065	10	0.66056	D	0.02	.	13.7594	0.62956	0.0747:0.0:0.9253:0.0	.	119;119;119;119	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	S	119	ENSP00000265944:G119S;ENSP00000365479:G119S;ENSP00000445909:G119S;ENSP00000365478:G119S	ENSP00000265944:G119S	G	+	1	0	MYO3A	26325476	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.680000	0.84062	1.311000	0.45024	0.484000	0.47621	GGT		0.353	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		14	102	14	102
CABP4	57010	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	67222946	67222946	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr11:67222946C>T	ENST00000325656.5	+	1	129	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C	CABP4_ENST00000542025.2_3'UTR|GPR152_ENST00000312457.2_5'Flank|CABP4_ENST00000438189.2_Intron	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	18					photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGCCATTGGCCGTCAGAAGCC	0.642																																																0													12.0	15.0	14.0					11																	67222946		2177	4252	6429	SO:0001583	missense	57010			AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.52C>T	11.37:g.67222946C>T	ENSP00000324960:p.Arg18Cys		Q8N4Z2|Q8WWY5	Missense_Mutation	SNP	ENST00000325656.5	37	CCDS8166.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.564160	0.27915	.	.	ENSG00000175544	ENST00000325656	T	0.69306	-0.39	4.31	1.29	0.21616	.	5.414580	0.00520	N	0.000199	T	0.48484	0.1502	N	0.08118	0	0.09310	N	1	B	0.21905	0.062	B	0.06405	0.002	T	0.44636	-0.9315	10	0.87932	D	0	-2.9314	6.9456	0.24516	0.0:0.6904:0.0:0.3096	.	18	P57796	CABP4_HUMAN	C	18	ENSP00000324960:R18C	ENSP00000324960:R18C	R	+	1	0	CABP4	66979522	0.000000	0.05858	0.007000	0.13788	0.014000	0.08584	-0.068000	0.11561	0.050000	0.15949	0.491000	0.48974	CGT		0.642	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			21	16	21	16
DPPA3	359787	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	7867804	7867804	+	Silent	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:7867804G>A	ENST00000345088.2	+	2	225	c.108G>A	c.(106-108)acG>acA	p.T36T		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	36					chromatin modification (GO:0016568)|embryonic cleavage (GO:0040016)|negative regulation of DNA demethylation (GO:1901536)|protection of DNA demethylation of female pronucleus (GO:0044726)|regulation of genetic imprinting (GO:2000653)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CCTCCGAGACGTTGATAAAGA	0.453																																																0													107.0	118.0	114.0					12																	7867804		2203	4300	6503	SO:0001819	synonymous_variant	359787			AY317075	CCDS8582.1	12p13.31	2012-10-02			ENSG00000187569	ENSG00000187569			19199	protein-coding gene	gene with protein product		608408					Standard	NM_199286		Approved	Stella	uc001qtf.3	Q6W0C5	OTTHUMG00000168434	ENST00000345088.2:c.108G>A	12.37:g.7867804G>A			Q0P5U3|Q6JZS6	Silent	SNP	ENST00000345088.2	37	CCDS8582.1																																																																																				0.453	DPPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399718.1	NM_199286		60	111	60	111
FMNL3	91010	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	50044648	50044648	+	Missense_Mutation	SNP	T	T	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:50044648T>A	ENST00000293590.5	-	17	2044	c.1811A>T	c.(1810-1812)gAt>gTt	p.D604V	FMNL3_ENST00000550488.1_Missense_Mutation_p.D604V|FMNL3_ENST00000352151.5_Missense_Mutation_p.D553V|FMNL3_ENST00000335154.5_Missense_Mutation_p.D604V			Q8IVF7	FMNL3_HUMAN	formin-like 3	604	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TTCAAACTTATCAAGATCCAG	0.512																																																0													76.0	71.0	73.0					12																	50044648		1927	4140	6067	SO:0001583	missense	91010			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.1811A>T	12.37:g.50044648T>A	ENSP00000293590:p.Asp604Val		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37		.	.	.	.	.	.	.	.	.	.	T	21.9	4.217643	0.79352	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.4	5.4	0.78164	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.154328	0.56097	D	0.000030	T	0.75532	0.3862	M	0.64997	1.995	0.80722	D	1	P;D;D	0.76494	0.928;0.999;0.999	P;D;D	0.87578	0.775;0.997;0.998	T	0.73886	-0.3841	10	0.33141	T	0.24	.	14.7049	0.69183	0.0:0.0:0.0:1.0	.	553;604;604	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	V	604;604;553;604	ENSP00000335655:D604V;ENSP00000447479:D604V;ENSP00000344311:D553V;ENSP00000293590:D604V	ENSP00000293590:D604V	D	-	2	0	FMNL3	48330915	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.294000	0.72738	2.175000	0.68902	0.528000	0.53228	GAT		0.512	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		14	60	14	60
SOAT2	8435	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	53517583	53517583	+	Missense_Mutation	SNP	T	T	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:53517583T>A	ENST00000301466.3	+	14	1504	c.1444T>A	c.(1444-1446)Ttt>Att	p.F482I		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	482					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	GACCATGCTGTTTCTAGGCCA	0.577																																																0													143.0	111.0	122.0					12																	53517583		2203	4300	6503	SO:0001583	missense	8435			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.1444T>A	12.37:g.53517583T>A	ENSP00000301466:p.Phe482Ile		F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Missense_Mutation	SNP	ENST00000301466.3	37	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876616	0.72180	.	.	ENSG00000167780	ENST00000301466	T	0.73258	-0.73	4.52	3.33	0.38152	.	0.114307	0.64402	D	0.000017	T	0.49609	0.1567	L	0.28776	0.89	0.53005	D	0.999967	B	0.34103	0.437	B	0.29862	0.108	T	0.32798	-0.9893	10	0.19590	T	0.45	-6.9494	5.1016	0.14762	0.1626:0.0896:0.0:0.7478	.	482	O75908	SOAT2_HUMAN	I	482	ENSP00000301466:F482I	ENSP00000301466:F482I	F	+	1	0	SOAT2	51803850	1.000000	0.71417	0.266000	0.24541	0.788000	0.44548	3.590000	0.53979	0.841000	0.35020	0.459000	0.35465	TTT		0.577	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			24	61	24	61
TRHDE	29953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	73012760	73012760	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:73012760G>A	ENST00000261180.4	+	13	2372	c.2276G>A	c.(2275-2277)cGa>cAa	p.R759Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	759					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCTGCCAGCCGAGCTCTTTAT	0.368																																																0													52.0	55.0	54.0					12																	73012760		2201	4300	6501	SO:0001583	missense	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2276G>A	12.37:g.73012760G>A	ENSP00000261180:p.Arg759Gln		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408256	0.62399	.	.	ENSG00000072657	ENST00000261180	T	0.05447	3.44	5.77	5.77	0.91146	.	0.073688	0.56097	D	0.000024	T	0.07773	0.0195	L	0.46157	1.445	0.52501	D	0.999956	B	0.29115	0.233	B	0.21546	0.035	T	0.24261	-1.0165	10	0.30854	T	0.27	.	15.515	0.75815	0.0681:0.0:0.9319:0.0	.	759	Q9UKU6	TRHDE_HUMAN	Q	759	ENSP00000261180:R759Q	ENSP00000261180:R759Q	R	+	2	0	TRHDE	71299027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.234000	0.78134	2.885000	0.99019	0.655000	0.94253	CGA		0.368	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		26	71	26	71
THSD4	79875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	71535120	71535120	+	Silent	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr15:71535120C>T	ENST00000355327.3	+	5	731	c.597C>T	c.(595-597)tcC>tcT	p.S199S	THSD4_ENST00000261862.6_Silent_p.S199S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	199	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCGCCATTCCAGGTCCCAGG	0.567																																																0													79.0	88.0	85.0					15																	71535120		2085	4213	6298	SO:0001819	synonymous_variant	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.597C>T	15.37:g.71535120C>T			B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	ENST00000355327.3	37	CCDS10238.2																																																																																				0.567	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		13	142	13	142
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		47	19	47	19
USP43	124739	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	9631874	9631874	+	Missense_Mutation	SNP	A	A	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:9631874A>T	ENST00000285199.7	+	15	3035	c.2939A>T	c.(2938-2940)gAc>gTc	p.D980V	USP43_ENST00000570475.1_Missense_Mutation_p.D975V|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	980					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AACAGCAAAGACAGTCGCCGA	0.572																																																0													44.0	49.0	47.0					17																	9631874		1951	4136	6087	SO:0001583	missense	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2939A>T	17.37:g.9631874A>T	ENSP00000285199:p.Asp980Val		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.940313	0.34283	.	.	ENSG00000154914	ENST00000285199	T	0.11604	2.76	5.31	2.87	0.33458	.	8.069370	0.00166	N	0.000000	T	0.22003	0.0530	L	0.54323	1.7	0.09310	N	0.999991	P;D;P;D	0.59767	0.949;0.97;0.949;0.986	P;P;P;P	0.53035	0.521;0.646;0.521;0.716	T	0.04840	-1.0923	10	0.56958	D	0.05	-14.7108	5.9907	0.19460	0.7532:0.0:0.2468:0.0	.	975;669;980;492	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	V	980	ENSP00000285199:D980V	ENSP00000285199:D980V	D	+	2	0	USP43	9572599	0.068000	0.21057	0.016000	0.15963	0.011000	0.07611	0.383000	0.20651	0.373000	0.24621	-0.256000	0.11100	GAC		0.572	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210		12	34	12	34
DBF4B	80174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	42828250	42828250	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:42828250C>G	ENST00000315005.3	+	14	1615	c.1477C>G	c.(1477-1479)Cca>Gca	p.P493A	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	493					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TGTTAAGGGCCCACTCCTCTT	0.592																																																0													108.0	100.0	103.0					17																	42828250		2203	4300	6503	SO:0001583	missense	80174			AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1477C>G	17.37:g.42828250C>G	ENSP00000323663:p.Pro493Ala		D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	C	6.027	0.373267	0.11409	.	.	ENSG00000161692	ENST00000315005	T	0.56103	0.48	2.44	-0.887	0.10587	.	58.480500	0.00357	U	0.000038	T	0.31451	0.0797	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.08055	0.003	T	0.13818	-1.0495	9	.	.	.	.	7.1928	0.25834	0.0:0.7426:0.0:0.2574	.	493	Q8NFT6	DBF4B_HUMAN	A	493	ENSP00000323663:P493A	.	P	+	1	0	DBF4B	40183776	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-1.091000	0.03369	-0.147000	0.11254	-0.752000	0.03492	CCA		0.592	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		54	119	54	119
ZNF334	55713	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	45131229	45131229	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr20:45131229G>A	ENST00000347606.4	-	5	931	c.749C>T	c.(748-750)tCt>tTt	p.S250F	ZNF334_ENST00000457685.2_Missense_Mutation_p.S212F|ZNF334_ENST00000593880.1_Missense_Mutation_p.S273F	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATGAGGGTAGATCTCTTAGA	0.398																																																0													92.0	91.0	91.0					20																	45131229		2203	4300	6503	SO:0001583	missense	55713			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.749C>T	20.37:g.45131229G>A	ENSP00000255129:p.Ser250Phe		Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.212073	0.39102	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.35789	1.29;1.29	3.45	2.49	0.30216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42108	0.1188	M	0.88570	2.965	0.09310	N	1	B;B;B	0.32939	0.391;0.391;0.13	B;B;B	0.28305	0.088;0.088;0.061	T	0.41431	-0.9509	9	0.62326	D	0.03	.	8.7075	0.34363	0.117:0.0:0.883:0.0	.	212;250;273	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	F	212;250	ENSP00000402582:S212F;ENSP00000255129:S250F	ENSP00000255129:S250F	S	-	2	0	ZNF334	44564636	0.000000	0.05858	0.059000	0.19551	0.729000	0.41735	-0.080000	0.11339	0.775000	0.33450	0.591000	0.81541	TCT		0.398	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			52	104	52	104
HELZ2	85441	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	62196772	62196772	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr20:62196772C>T	ENST00000467148.1	-	8	3472	c.3403G>A	c.(3403-3405)Gtg>Atg	p.V1135M	HELZ2_ENST00000427522.2_Missense_Mutation_p.V566M	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1135					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GTCTCTGGCACGAAAGAGCAG	0.701																																																0																																										SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3403G>A	20.37:g.62196772C>T	ENSP00000417401:p.Val1135Met		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	C	8.503	0.864705	0.17250	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.22336	1.96;1.96	4.81	-1.53	0.08611	.	0.989482	0.08197	N	0.982975	T	0.23886	0.0578	L	0.42245	1.32	0.09310	N	1	D;D	0.60160	0.979;0.987	B;P	0.49387	0.405;0.609	T	0.35375	-0.9791	10	0.54805	T	0.06	-2.7161	9.7313	0.40363	0.0:0.3023:0.4839:0.2138	.	1135;566	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	M	566;1135	ENSP00000393257:V566M;ENSP00000417401:V1135M	ENSP00000393257:V566M	V	-	1	0	RP4-697K14.7	61667216	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-0.539000	0.06113	-0.118000	0.11851	-0.440000	0.05779	GTG		0.701	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		5	25	5	25
DNMT3A	1788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	25457209	25457209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:25457209C>T	ENST00000264709.3	-	23	3015	c.2678G>A	c.(2677-2679)tGg>tAg	p.W893*	DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W893*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W704*|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W670*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	893	S-adenosyl-L-methionine binding. {ECO:0000305}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.W893S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCACGCTCCATGACCGGCC	0.557			"""Mis, F, N, S"""		AML																																		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											67.0	62.0	63.0					2																	25457209		2203	4300	6503	SO:0001587	stop_gained	1788				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2678G>A	2.37:g.25457209C>T	ENSP00000264709:p.Trp893*		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	37	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	40	8.141423	0.98675	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7817	18.6564	0.91455	0.0:1.0:0.0:0.0	.	.	.	.	X	704;893;893;670	.	ENSP00000264709:W893X	W	-	2	0	DNMT3A	25310713	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.814000	0.86154	2.745000	0.94114	0.561000	0.74099	TGG		0.557	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		22	54	22	54
IL1RL2	8808	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	102835531	102835531	+	Silent	SNP	A	A	G			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:102835531A>G	ENST00000264257.2	+	7	969	c.843A>G	c.(841-843)agA>agG	p.R281R	IL1RL2_ENST00000441515.2_Silent_p.R163R|IL1RL2_ENST00000539491.1_Silent_p.R281R|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	281	Ig-like C2-type 3.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AACGAATCAGAGAAGGGGTGG	0.403																																																0													195.0	174.0	181.0					2																	102835531		2203	4300	6503	SO:0001819	synonymous_variant	8808			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.843A>G	2.37:g.102835531A>G			A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	ENST00000264257.2	37	CCDS2056.1																																																																																				0.403	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		43	101	43	101
ST6GAL2	84620	hgsc.bcm.edu;broad.mit.edu	37	2	107446647	107446647	+	Missense_Mutation	SNP	C	C	T	rs144935783		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:107446647C>T	ENST00000409382.3	-	5	1803	c.1193G>A	c.(1192-1194)cGt>cAt	p.R398H	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R398H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R398H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	398					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.R398H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTTTCTCTGACGATGCTGAAT	0.353																																																1	Substitution - Missense(1)	autonomic_ganglia(1)						C	HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	157.0	152.0	153.0		1193,1193,1193	6.1	1.0	2	dbSNP_134	153	0,8600		0,0,4300	no	missense,missense,missense	ST6GAL2	NM_001142351.1,NM_001142352.1,NM_032528.2	29,29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	398/530,398/467,398/530	107446647	2,13004	2203	4300	6503	SO:0001583	missense	84620			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1193G>A	2.37:g.107446647C>T	ENSP00000386942:p.Arg398His		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160885	0.94727	4.54E-4	0.0	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.78595	-1.19;-1.19;-1.19	6.06	6.06	0.98353	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.000000	0.85682	D	0.000000	D	0.90817	0.7116	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.91252	0.5030	10	0.62326	D	0.03	-17.9674	19.609	0.95594	0.0:1.0:0.0:0.0	.	398;398	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	H	398	ENSP00000355273:R398H;ENSP00000386942:R398H;ENSP00000387332:R398H	ENSP00000355273:R398H	R	-	2	0	ST6GAL2	106813079	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	CGT		0.353	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		13	161	13	161
ZNF804A	91752	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	185801555	185801555	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:185801555C>G	ENST00000302277.6	+	4	2026	c.1432C>G	c.(1432-1434)Cca>Gca	p.P478A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	478							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAAAAATAAGCCAGACTTAAA	0.343																																																0													72.0	76.0	75.0					2																	185801555		2201	4300	6501	SO:0001583	missense	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1432C>G	2.37:g.185801555C>G	ENSP00000303252:p.Pro478Ala		A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	0.718	-0.784535	0.02907	.	.	ENSG00000170396	ENST00000302277	T	0.05580	3.42	5.69	0.554	0.17241	.	1.217240	0.05964	N	0.641162	T	0.05640	0.0148	N	0.19112	0.55	0.09310	N	1	B	0.18166	0.026	B	0.14023	0.01	T	0.45469	-0.9259	10	0.42905	T	0.14	1.384	10.3511	0.43937	0.5077:0.3693:0.1231:0.0	.	478	Q7Z570	Z804A_HUMAN	A	478	ENSP00000303252:P478A	ENSP00000303252:P478A	P	+	1	0	ZNF804A	185509800	0.000000	0.05858	0.008000	0.14137	0.091000	0.18340	-0.500000	0.06405	-0.186000	0.10533	-0.181000	0.13052	CCA		0.343	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		19	135	19	135
FZD5	7855	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	208632020	208632020	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:208632020G>T	ENST00000295417.3	-	2	1997	c.1444C>A	c.(1444-1446)Ctc>Atc	p.L482I		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	482					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GCGCAGGTGAGCGCCGCCTCC	0.667																																																0													17.0	14.0	15.0					2																	208632020		2144	4177	6321	SO:0001583	missense	7855			U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.1444C>A	2.37:g.208632020G>T	ENSP00000354607:p.Leu482Ile		A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808807	0.31961	.	.	ENSG00000163251	ENST00000295417	D	0.82081	-1.57	5.21	4.3	0.51218	GPCR, family 2-like (1);	0.185795	0.38326	N	0.001730	T	0.80460	0.4627	L	0.49640	1.575	0.47214	D	0.999355	B	0.27068	0.167	B	0.32090	0.14	T	0.79598	-0.1737	10	0.48119	T	0.1	.	15.1451	0.72643	0.0:0.0:0.8583:0.1417	.	482	Q13467	FZD5_HUMAN	I	482	ENSP00000354607:L482I	ENSP00000354607:L482I	L	-	1	0	FZD5	208340265	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	4.765000	0.62271	2.421000	0.82119	0.491000	0.48974	CTC		0.667	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		7	30	7	30
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			33	71	33	71
TMEM40	55287	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	12779642	12779642	+	Silent	SNP	T	T	G			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:12779642T>G	ENST00000314124.7	-	7	773	c.417A>C	c.(415-417)ccA>ccC	p.P139P	TMEM40_ENST00000264728.8_Silent_p.P139P|TMEM40_ENST00000435218.2_Silent_p.P109P|TMEM40_ENST00000431022.2_Silent_p.P155P|TMEM40_ENST00000435575.1_Silent_p.P63P|TMEM40_ENST00000476331.1_5'UTR	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	139						integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TACCACTTGCTGGGTCAGAGC	0.557																																																0													87.0	81.0	83.0					3																	12779642		2203	4300	6503	SO:0001819	synonymous_variant	55287			BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.417A>C	3.37:g.12779642T>G			C9JID5|Q8NAL4|Q9NUZ4	Silent	SNP	ENST00000314124.7	37	CCDS2613.1																																																																																				0.557	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		11	29	11	29
CMTM7	112616	hgsc.bcm.edu;broad.mit.edu	37	3	32483476	32483476	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:32483476G>A	ENST00000334983.5	+	2	540	c.304G>A	c.(304-306)Gtg>Atg	p.V102M	CMTM7_ENST00000349718.4_Missense_Mutation_p.V102M	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	102	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(1)|lung(2)	4						CTTCTACCGCGTGCTCACCTG	0.537																																																0													164.0	138.0	147.0					3																	32483476		2203	4300	6503	SO:0001583	missense	112616			AF479263	CCDS33730.1, CCDS33731.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000153551	ENSG00000153551			19178	protein-coding gene	gene with protein product		607890	"""chemokine-like factor super family 7"", ""chemokine-like factor superfamily 7"""	CKLFSF7			Standard	NM_138410		Approved	FLJ30992	uc003cey.1	Q96FZ5	OTTHUMG00000155869	ENST00000334983.5:c.304G>A	3.37:g.32483476G>A	ENSP00000335605:p.Val102Met		Q5VLK1	Missense_Mutation	SNP	ENST00000334983.5	37	CCDS33730.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291818	0.23564	.	.	ENSG00000153551	ENST00000334983;ENST00000349718;ENST00000465248	T	0.26373	1.74	5.5	-2.0	0.07433	Marvel (1);MARVEL-like domain (1);	0.911531	0.09287	N	0.822954	T	0.09686	0.0238	N	0.11201	0.11	0.09310	N	1	B;B	0.33494	0.414;0.174	B;B	0.18561	0.021;0.022	T	0.26608	-1.0098	10	0.27785	T	0.31	.	6.9637	0.24611	0.5413:0.1244:0.3343:0.0	.	102;102	Q5VLK1;Q96FZ5	.;CKLF7_HUMAN	M	102;102;58	ENSP00000335605:V102M	ENSP00000335605:V102M	V	+	1	0	CMTM7	32458480	0.001000	0.12720	0.123000	0.21794	0.957000	0.61999	-0.090000	0.11163	-0.195000	0.10382	-0.194000	0.12790	GTG		0.537	CMTM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342084.1			10	130	10	130
POGLUT1	56983	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	119204196	119204196	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:119204196G>A	ENST00000295588.4	+	6	684	c.600G>A	c.(598-600)tgG>tgA	p.W200*		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	200					cardiovascular system development (GO:0072358)|Notch signaling pathway (GO:0007219)|protein O-linked glycosylation (GO:0006493)|regulation of Notch signaling pathway (GO:0008593)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	glucosyltransferase activity (GO:0046527)|protein xylosyltransferase activity (GO:0030158)|UDP-glucosyltransferase activity (GO:0035251)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						AGTGGCCATGGAAAAAGAAAA	0.299																																																0													102.0	112.0	108.0					3																	119204196		2203	4300	6503	SO:0001587	stop_gained	56983			BC030614	CCDS2988.1	3q13.33	2010-09-29	2010-09-29	2010-09-29	ENSG00000163389	ENSG00000163389			22954	protein-coding gene	gene with protein product	"""KDELC family like 1"""	615618	"""chromosome 3 open reading frame 9"", ""KTEL (Lys-Tyr-Glu-Leu) containing 1"""	C3orf9, KTELC1		16524674	Standard	NM_152305		Approved	MDS010, MGC32995, 9630046K23Rik, MDSRP, hCLP46, KDELCL1, Rumi	uc003ecm.3	Q8NBL1	OTTHUMG00000159379	ENST00000295588.4:c.600G>A	3.37:g.119204196G>A	ENSP00000295588:p.Trp200*		B2RD13|Q53GJ4|Q8N2T1	Nonsense_Mutation	SNP	ENST00000295588.4	37	CCDS2988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.86|14.86	2.661032|2.661032	0.47572|0.47572	.|.	.|.	ENSG00000163389|ENSG00000163389	ENST00000476573|ENST00000295588	.|.	.|.	.|.	5.32|5.32	4.44|4.44	0.53790|0.53790	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.32585|.	0.0834|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35500|.	-0.9786|.	3|.	.|0.02654	.|T	.|1	-9.3647|-9.3647	12.3599|12.3599	0.55197|0.55197	0.0:0.1697:0.8303:0.0|0.0:0.1697:0.8303:0.0	.|.	.|.	.|.	.|.	K|X	187|200	.|.	.|ENSP00000295588:W200X	E|W	+|+	1|3	0|0	POGLUT1|POGLUT1	120686886|120686886	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	6.645000|6.645000	0.74343|0.74343	1.342000|1.342000	0.45619|0.45619	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.299	POGLUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355034.2	NM_152305		14	52	14	52
AP2M1	1173	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	183898930	183898930	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:183898930G>C	ENST00000292807.5	+	7	771	c.623G>C	c.(622-624)gGc>gCc	p.G208A	AP2M1_ENST00000439647.1_Missense_Mutation_p.G206A|AP2M1_ENST00000411763.2_Missense_Mutation_p.G233A|AP2M1_ENST00000461733.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Missense_Mutation_p.G206A	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	208	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACCTGAGTGGCATGCCTGAA	0.537																																																0													155.0	165.0	162.0					3																	183898930		2115	4224	6339	SO:0001583	missense	1173			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.623G>C	3.37:g.183898930G>C	ENSP00000292807:p.Gly208Ala		A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	ENST00000292807.5	37	CCDS43177.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761125	0.89932	.	.	ENSG00000161203	ENST00000382456;ENST00000411763;ENST00000292807;ENST00000540821;ENST00000539646;ENST00000439647	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	6.07	6.07	0.98685	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.80507	0.4636	H	0.98466	4.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.87045	0.2143	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	98;78;208;206	B7Z4N2;B4DTI4;Q96CW1;Q96CW1-2	.;.;AP2M1_HUMAN;.	A	206;233;208;148;193;206	ENSP00000371894:G206A;ENSP00000403362:G233A;ENSP00000292807:G208A;ENSP00000409081:G206A	ENSP00000292807:G208A	G	+	2	0	AP2M1	185381624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.102000	0.94226	2.884000	0.98904	0.655000	0.94253	GGC		0.537	AP2M1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346013.1	NM_004068		35	214	35	214
TRIM15	89870	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	30134981	30134981	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:30134981T>C	ENST00000376694.4	+	2	879	c.410T>C	c.(409-411)cTg>cCg	p.L137P	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	137					innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CTGGAAGCTCTGAGCACGGAG	0.453																																																0													132.0	119.0	124.0					6																	30134981		1511	2709	4220	SO:0001583	missense	89870			AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.410T>C	6.37:g.30134981T>C	ENSP00000365884:p.Leu137Pro		A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	CCDS4677.1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618008	0.28801	.	.	ENSG00000204610	ENST00000376695;ENST00000376694	T	0.75938	-0.98	5.53	4.37	0.52481	.	0.190452	0.25366	N	0.031184	T	0.77465	0.4134	M	0.83774	2.66	0.21652	N	0.999606	D	0.69078	0.997	D	0.63597	0.916	T	0.72225	-0.4355	10	0.87932	D	0	.	8.048	0.30562	0.0:0.0917:0.0:0.9083	.	137	Q9C019	TRI15_HUMAN	P	68;137	ENSP00000365884:L137P	ENSP00000365884:L137P	L	+	2	0	TRIM15	30242960	0.005000	0.15991	0.514000	0.27761	0.021000	0.10359	1.059000	0.30517	0.945000	0.37605	0.523000	0.50628	CTG		0.453	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		17	76	17	76
TNXB	7148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	32018082	32018082	+	Silent	SNP	G	G	A	rs544342649		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:32018082G>A	ENST00000375244.3	-	27	9333	c.9132C>T	c.(9130-9132)gcC>gcT	p.A3044A	TNXB_ENST00000375247.2_Silent_p.A3042A			P22105	TENX_HUMAN	tenascin XB	3089	Fibronectin type-III 22. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGTGGTCTCGGCTTCATCCT	0.597													g|||	1	0.000199681	0.0008	0.0	5008	,	,		13615	0.0		0.0	False		,,,				2504	0.0															0													83.0	97.0	92.0					6																	32018082		1352	2597	3949	SO:0001819	synonymous_variant	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9132C>T	6.37:g.32018082G>A			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37																																																																																					0.597	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		39	69	39	69
GPR63	81491	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	97246405	97246405	+	Silent	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:97246405C>T	ENST00000229955.3	-	2	1548	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K	RP3-417O22.3_ENST00000442184.1_RNA|GPR63_ENST00000417980.1_Silent_p.K401K	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	401						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GTATCCGTCGCTTTGTGTGAC	0.478																																																0													139.0	116.0	124.0					6																	97246405		2203	4300	6503	SO:0001819	synonymous_variant	81491			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.1203G>A	6.37:g.97246405C>T			Q9UJH3	Silent	SNP	ENST00000229955.3	37	CCDS5036.1																																																																																				0.478	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2			36	69	36	69
ZNF804B	219578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	88964578	88964578	+	Missense_Mutation	SNP	A	A	C			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr7:88964578A>C	ENST00000333190.4	+	4	2891	c.2282A>C	c.(2281-2283)aAc>aCc	p.N761T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	761							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTAAAGCACAACTGCTTCTAC	0.383										HNSCC(36;0.09)																																						0													70.0	62.0	65.0					7																	88964578		2203	4300	6503	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2282A>C	7.37:g.88964578A>C	ENSP00000329638:p.Asn761Thr		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	2.269	-0.367520	0.05069	.	.	ENSG00000182348	ENST00000333190	T	0.05513	3.43	5.39	-1.66	0.08265	.	1.013420	0.07891	N	0.971256	T	0.04182	0.0116	N	0.17082	0.46	0.22926	N	0.99855	B	0.21071	0.051	B	0.14578	0.011	T	0.44452	-0.9327	10	0.38643	T	0.18	-1.1779	8.2382	0.31638	0.5589:0.3641:0.077:0.0	.	761	A4D1E1	Z804B_HUMAN	T	761	ENSP00000329638:N761T	ENSP00000329638:N761T	N	+	2	0	ZNF804B	88802514	0.147000	0.22687	0.018000	0.16275	0.140000	0.21249	0.567000	0.23608	-0.396000	0.07703	0.528000	0.53228	AAC		0.383	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		24	47	24	47
BAIAP2L1	55971	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	97941545	97941545	+	Missense_Mutation	SNP	C	C	T	rs369904739		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr7:97941545C>T	ENST00000005260.8	-	8	886	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	RP4-607J23.2_ENST00000608882.1_RNA|BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	224	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCTGCCACCGAGGCAGCTT	0.448																																																0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	147.0	155.0	152.0		671	2.9	0.3	7		152	0,8600		0,0,4300	no	missense	BAIAP2L1	NM_018842.4	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	224/512	97941545	1,13005	2203	4300	6503	SO:0001583	missense	55971			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.671G>A	7.37:g.97941545C>T	ENSP00000005260:p.Arg224Gln		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317224	0.23908	2.27E-4	0.0	ENSG00000006453	ENST00000005260	T	0.21734	1.99	5.02	2.9	0.33743	IRSp53/MIM homology domain (IMD) (3);	0.320683	0.40385	N	0.001106	T	0.10252	0.0251	N	0.22421	0.69	0.09310	N	1	P	0.39116	0.66	B	0.34991	0.193	T	0.20405	-1.0276	10	0.12430	T	0.62	-13.8922	7.446	0.27211	0.0:0.6772:0.0:0.3228	.	224	Q9UHR4	BI2L1_HUMAN	Q	224	ENSP00000005260:R224Q	ENSP00000005260:R224Q	R	-	2	0	AC093799.1	97779481	0.000000	0.05858	0.308000	0.25141	0.791000	0.44710	0.308000	0.19314	1.109000	0.41680	0.563000	0.77884	CGG		0.448	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		22	241	22	241
AMER1	139285	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	63412957	63412957	+	Silent	SNP	A	A	G			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chrX:63412957A>G	ENST00000330258.3	-	2	482	c.210T>C	c.(208-210)ccT>ccC	p.P70P	AMER1_ENST00000374869.3_Silent_p.P70P|AMER1_ENST00000403336.1_Silent_p.P70P	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	70					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CAAAGAAACTAGGCAGAGTAC	0.542																																																67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											146.0	118.0	127.0					X																	63412957		2203	4300	6503	SO:0001819	synonymous_variant	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.210T>C	X.37:g.63412957A>G			A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	CCDS14377.2																																																																																				0.542	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		14	73	14	73
KIAA1841	84542	broad.mit.edu;ucsc.edu	37	2	61310289	61310289	+	Splice_Site	SNP	G	G	C			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:61310289G>C	ENST00000402291.1	+	8	971	c.730G>C	c.(730-732)Gtt>Ctt	p.V244L	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Splice_Site_p.V244L|KIAA1841_ENST00000295031.5_Splice_Site_p.V244L|KIAA1841_ENST00000453873.1_Splice_Site_p.V244L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	244										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GATTTTTTAGGTTGAACAGTG	0.318																																																0													86.0	83.0	84.0					2																	61310289		2203	4299	6502	SO:0001630	splice_region_variant	84542			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.730-1G>C	2.37:g.61310289G>C			Q49AF0|Q6ZND0|Q96JI6	Splice_Site	SNP	ENST00000402291.1	37	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280854	0.23392	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.16	3.33	0.38152	.	0.000000	0.85682	D	0.000000	T	0.29158	0.0725	L	0.55103	1.725	0.58432	D	0.999997	P;P;D	0.57257	0.897;0.86;0.979	P;P;P	0.53649	0.612;0.731;0.527	T	0.01375	-1.1371	9	.	.	.	-15.4953	9.4561	0.38756	0.0753:0.0:0.7816:0.1431	.	244;244;244	Q6NSI8-2;Q6NSI8;Q6NSI8-4	.;K1841_HUMAN;.	L	244	ENSP00000385579:V244L;ENSP00000295031:V244L;ENSP00000349154:V244L;ENSP00000416795:V244L	.	V	+	1	0	KIAA1841	61163793	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	9.588000	0.98232	0.665000	0.31066	-0.895000	0.02911	GTT		0.318	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506	Missense_Mutation	15	41	15	41
USP12	219333	broad.mit.edu;ucsc.edu	37	13	27680004	27680004	+	Silent	SNP	C	C	T	rs142426104		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr13:27680004C>T	ENST00000282344.6	-	3	463	c.207G>A	c.(205-207)gcG>gcA	p.A69A		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	69	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GACTCTTATACGCAAGAACTT	0.393																																					Ovarian(37;808 911 7590 44442 44991)											0								C		1,4405	2.1+/-5.4	0,1,2202	74.0	72.0	72.0		207	-10.8	0.0	13	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	USP12	NM_182488.3		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		69/371	27680004	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	219333			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.207G>A	13.37:g.27680004C>T			A8K0X0|Q5VZV3|Q8TC49	Silent	SNP	ENST00000282344.6	37	CCDS31952.1																																																																																				0.393	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		19	70	19	70
DAG1	1605	broad.mit.edu;ucsc.edu	37	3	49569023	49569023	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:49569023A>G	ENST00000539901.1	+	3	1637	c.1079A>G	c.(1078-1080)gAt>gGt	p.D360G	DAG1_ENST00000545947.1_Missense_Mutation_p.D360G|DAG1_ENST00000308775.2_Missense_Mutation_p.D360G|DAG1_ENST00000538711.1_Missense_Mutation_p.D360G|DAG1_ENST00000515359.2_Missense_Mutation_p.D360G|DAG1_ENST00000541308.1_Missense_Mutation_p.D360G	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	360	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCAGTCAGGGATCCTGTTCCT	0.602																																																0													90.0	91.0	91.0					3																	49569023		2203	4300	6503	SO:0001583	missense	1605			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1079A>G	3.37:g.49569023A>G	ENSP00000439334:p.Asp360Gly		A8K6M7|Q969J9	Missense_Mutation	SNP	ENST00000539901.1	37	CCDS2799.1	.	.	.	.	.	.	.	.	.	.	A	10.90	1.480662	0.26598	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.74	5.74	0.90152	.	0.091996	0.85682	D	0.000000	T	0.13200	0.0320	N	0.00347	-1.61	0.38761	D	0.954336	B	0.19445	0.036	B	0.11329	0.006	T	0.28808	-1.0032	9	.	.	.	-18.0868	15.0194	0.71617	1.0:0.0:0.0:0.0	.	360	Q14118	DAG1_HUMAN	G	360	ENSP00000440705:D360G;ENSP00000312435:D360G;ENSP00000442600:D360G;ENSP00000440590:D360G;ENSP00000439334:D360G;ENSP00000438421:D360G	.	D	+	2	0	DAG1	49544027	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.128000	0.71650	2.183000	0.69458	0.533000	0.62120	GAT		0.602	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346326.1			36	198	36	198
FGFR4	2264	broad.mit.edu;ucsc.edu	37	5	176517585	176517585	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr5:176517585G>T	ENST00000292408.4	+	3	531	c.286G>T	c.(286-288)Gct>Tct	p.A96S	FGFR4_ENST00000393648.2_Missense_Mutation_p.A96S|FGFR4_ENST00000502906.1_Missense_Mutation_p.A96S|FGFR4_ENST00000393637.1_Missense_Mutation_p.A96S|FGFR4_ENST00000292410.3_Missense_Mutation_p.A96S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	96	Ig-like C2-type 1.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	ACCTGAGGATGCTGGCCGCTA	0.607										TSP Lung(9;0.080)																																						0													43.0	44.0	44.0					5																	176517585		2203	4300	6503	SO:0001583	missense	2264			AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.286G>T	5.37:g.176517585G>T	ENSP00000292408:p.Ala96Ser		G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Missense_Mutation	SNP	ENST00000292408.4	37	CCDS4410.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.356782	0.41801	.	.	ENSG00000160867	ENST00000292408;ENST00000503708;ENST00000393648;ENST00000514472;ENST00000502906;ENST00000292410;ENST00000513166;ENST00000393637;ENST00000377207	T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	4.87	3.03	0.35002	Immunoglobulin subtype 2 (1);Immunoglobulin-like fold (1);	0.060112	0.64402	D	0.000003	T	0.60483	0.2272	N	0.21194	0.64	0.28841	N	0.896626	B;B;B;B;B	0.26041	0.074;0.14;0.092;0.033;0.001	B;B;B;B;B	0.26416	0.058;0.065;0.069;0.068;0.004	T	0.50550	-0.8815	10	0.02654	T	1	.	6.24	0.20785	0.0897:0.0:0.5147:0.3956	.	96;96;96;96;96	B5A965;B4DVP5;P22455-2;E7EWF4;P22455	.;.;.;.;FGFR4_HUMAN	S	96;96;96;96;96;96;96;96;172	ENSP00000292408:A96S;ENSP00000424905:A96S;ENSP00000377259:A96S;ENSP00000426492:A96S;ENSP00000424960:A96S;ENSP00000292410:A96S;ENSP00000422889:A96S;ENSP00000377254:A96S	ENSP00000292408:A96S	A	+	1	0	FGFR4	176450191	1.000000	0.71417	0.992000	0.48379	0.859000	0.49053	2.866000	0.48420	0.435000	0.26365	0.313000	0.20887	GCT		0.607	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253410.1			22	91	22	91
