#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
BAZ1B	9031	genome.wustl.edu	37	7	72856553	72856554	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr7:72856553_72856554insT	ENST00000339594.4	-	19	4762_4763	c.4424_4425insA	c.(4423-4425)cagfs	p.Q1475fs	BAZ1B_ENST00000404251.1_Frame_Shift_Ins_p.Q1475fs	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1475					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTCCCCTGGACTGTCCAACGGC	0.594																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.4425dupA	7.37:g.72856554_72856554dupT	ENSP00000342434:p.Gln1475fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Frame_Shift_Ins	INS	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.S1476fs	ENST00000339594.4	37	c.4425_4424	CCDS5549.1	7																																																																																			BAZ1B	-	NULL	ENSG00000009954		0.594	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1B	HGNC	protein_coding	OTTHUMT00000252123.4	24	0.00	0	-	NM_032408		72856553	72856554	-1	no_errors	ENST00000339594	ensembl	human	known	69_37n	frame_shift_ins	76	16.48	15	INS	0.998:0.999	T
CGB	1082	genome.wustl.edu	37	19	49526242	49526242	+	Silent	SNP	G	G	C	rs527654011	byFrequency	TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr19:49526242G>C	ENST00000357383.4	-	3	760	c.399C>G	c.(397-399)ccC>ccG	p.P133P	CTB-60B18.6_ENST00000591656.1_Silent_p.P119P	NM_000737.3	NP_000728.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide	133					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CCTGGAAGCGGGGGTCATCAC	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		13395	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													7.0	7.0	7.0					19																	49526242		1819	3646	5465	-	-	-	SO:0001819	synonymous_variant	0			J00117	CCDS12749.1	19q13.3	2013-02-25				ENSG00000104827		"""Endogenous ligands"""	1886	protein-coding gene	gene with protein product		118860				6774259, 6194155	Standard	NM_000737		Approved	CGB3	uc002plv.2	P01233		ENST00000357383.4:c.399C>G	19.37:g.49526242G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Silent	SNP	pfam_Cys_knot,smart_Gonadotropin_bsu	p.P133	ENST00000357383.4	37	c.399	CCDS12749.1	19																																																																																			CGB	-	NULL	ENSG00000104827		0.647	CGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGB	HGNC	protein_coding	OTTHUMT00000452164.2	28	0.00	0	G	NM_000737		49526242	49526242	-1	no_errors	ENST00000357383	ensembl	human	known	69_37n	silent	47	22.95	14	SNP	0.721	C
CNPY2	10330	genome.wustl.edu	37	12	56705098	56705098	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr12:56705098C>T	ENST00000273308.4	-	4	845	c.305G>A	c.(304-306)cGc>cAc	p.R102H	RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.R102H|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.12_ENST00000546789.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	102	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						GTAGTTCTTGCGATGGGTGGA	0.532																																						dbGAP											0													222.0	202.0	209.0					12																	56705098		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.305G>A	12.37:g.56705098C>T	ENSP00000273308:p.Arg102His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7B9|Q9UHE9	Missense_Mutation	SNP	pfam_DUF3456,superfamily_Saposin-like,pfscan_SaposinB	p.R102H	ENST00000273308.4	37	c.305	CCDS8914.1	12	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785469	0.90282	.	.	ENSG00000144785;ENSG00000257727;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000273308;ENST00000551475;ENST00000551286	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.56	4.67	0.58626	Saposin B (1);	0.000000	0.85682	D	0.000000	T	0.57695	0.2071	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.61173	-0.7116	10	0.56958	D	0.05	-24.5889	13.4557	0.61197	0.0:0.9233:0.0:0.0767	.	102	Q9Y2B0	CNPY2_HUMAN	H	102;102;102;50	ENSP00000446743:R102H;ENSP00000273308:R102H;ENSP00000448809:R102H;ENSP00000446784:R50H	ENSP00000273308:R102H	R	-	2	0	RP11-977G19.10;CNPY2	54991365	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.667000	0.83888	1.503000	0.48686	0.561000	0.74099	CGC	CNPY2	-	pfam_DUF3456,superfamily_Saposin-like,pfscan_SaposinB	ENSG00000257727		0.532	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNPY2	HGNC	protein_coding	OTTHUMT00000408546.1	82	0.00	0	C	NM_014255		56705098	56705098	-1	no_errors	ENST00000273308	ensembl	human	known	69_37n	missense	183	13.68	29	SNP	1.000	T
CORO1A	11151	genome.wustl.edu	37	16	30198152	30198152	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr16:30198152G>C	ENST00000219150.5	+	4	642	c.337G>C	c.(337-339)Gat>Cat	p.D113H	CORO1A_ENST00000570045.1_Missense_Mutation_p.D113H|RP11-455F5.5_ENST00000567153.1_RNA|RP11-455F5.5_ENST00000566144.1_RNA|CORO1A_ENST00000565497.1_Missense_Mutation_p.D113H|RP11-455F5.5_ENST00000568506.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	113					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GGAGATCCCAGATGGGGGCCT	0.652																																						dbGAP											0													23.0	29.0	27.0					16																	30198152		2197	4299	6496	-	-	-	SO:0001583	missense	0			X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"""Coronins"", ""WD repeat domain containing"""	2252	protein-coding gene	gene with protein product	"""Clabp TACO"""	605000	"""coronin, actin-binding protein, 1A"""			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.337G>C	16.37:g.30198152G>C	ENSP00000219150:p.Asp113His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBL1|Q2YD73	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D113H	ENST00000219150.5	37	c.337	CCDS10673.1	16	.	.	.	.	.	.	.	.	.	.	.	17.65	3.442556	0.63067	.	.	ENSG00000102879	ENST00000219150	T	0.01406	4.93	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.166606	0.52532	D	0.000071	T	0.03564	0.0102	M	0.67700	2.07	0.80722	D	1	B;P;B	0.37824	0.106;0.609;0.293	B;B;B	0.38264	0.039;0.269;0.18	T	0.39313	-0.9620	10	0.87932	D	0	-3.1066	18.6739	0.91521	0.0:0.0:1.0:0.0	.	113;147;113	B4DJS1;Q59G88;P31146	.;.;COR1A_HUMAN	H	113	ENSP00000219150:D113H	ENSP00000219150:D113H	D	+	1	0	CORO1A	30105653	1.000000	0.71417	0.945000	0.38365	0.751000	0.42716	9.780000	0.99024	2.722000	0.93159	0.655000	0.94253	GAT	CORO1A	-	pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000102879		0.652	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1A	HGNC	protein_coding	OTTHUMT00000255195.2	15	0.00	0	G	NM_007074		30198152	30198152	+1	no_errors	ENST00000219150	ensembl	human	known	69_37n	missense	50	18.03	11	SNP	0.999	C
DNAH8	1769	genome.wustl.edu	37	6	38816466	38816466	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr6:38816466T>A	ENST00000359357.3	+	35	4691	c.4437T>A	c.(4435-4437)taT>taA	p.Y1479*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.Y1696*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.Y1479*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1479					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTGGGTGTATAAATTGTCCA	0.353																																						dbGAP											0													73.0	77.0	76.0					6																	38816466		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4437T>A	6.37:g.38816466T>A	ENSP00000352312:p.Tyr1479*	Somatic		WXS	Illumina GAIIx	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.Y1479*	ENST00000359357.3	37	c.4437		6	.	.	.	.	.	.	.	.	.	.	T	46	12.307800	0.99655	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.78	0.868	0.19090	.	0.693240	0.14559	N	0.312173	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	9.1026	0.36678	0.0:0.2753:0.0:0.7247	.	.	.	.	X	1684;1684;1479;1479	.	ENSP00000333363:Y1684X	Y	+	3	2	DNAH8	38924444	0.001000	0.12720	0.981000	0.43875	0.958000	0.62258	-0.126000	0.10563	0.141000	0.18875	0.533000	0.62120	TAT	DNAH8	-	pfam_Dynein_heavy_dom-2	ENSG00000124721		0.353	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	64	0.00	0	T	NM_001206927		38816466	38816466	+1	no_errors	ENST00000359357	ensembl	human	known	69_37n	nonsense	127	16.45	25	SNP	0.730	A
EOMES	8320	genome.wustl.edu	37	3	27760081	27760081	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr3:27760081T>C	ENST00000295743.4	-	5	1579	c.1376A>G	c.(1375-1377)gAt>gGt	p.D459G	EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000449599.1_Missense_Mutation_p.D459G|EOMES_ENST00000537516.1_Missense_Mutation_p.D164G			O95936	EOMES_HUMAN	eomesodermin	459					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						CACTTACGAATCATAGTTGTC	0.383																																						dbGAP											0													135.0	125.0	128.0					3																	27760081		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1376A>G	3.37:g.27760081T>C	ENSP00000295743:p.Asp459Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.D459G	ENST00000295743.4	37	c.1376	CCDS2646.1	3	.	.	.	.	.	.	.	.	.	.	T	27.2	4.806686	0.90623	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	T;T;T	0.79940	-1.32;-1.32;-1.32	5.83	5.83	0.93111	p53-like transcription factor, DNA-binding (1);	0.096155	0.64402	D	0.000001	T	0.80773	0.4687	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.991;0.999;0.999	D	0.85534	0.1211	10	0.87932	D	0	.	16.2127	0.82178	0.0:0.0:0.0:1.0	.	173;459;459	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	G	459;459;164;324	ENSP00000295743:D459G;ENSP00000388620:D459G;ENSP00000442097:D164G	ENSP00000295743:D459G	D	-	2	0	EOMES	27735085	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.698000	0.84413	2.236000	0.73375	0.533000	0.62120	GAT	EOMES	-	superfamily_p53-like_TF_DNA-bd,smart_TF_T-box	ENSG00000163508		0.383	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	HGNC	protein_coding	OTTHUMT00000252995.1	55	0.00	0	T	NM_005442		27760081	27760081	-1	no_errors	ENST00000449599	ensembl	human	known	69_37n	missense	113	11.72	15	SNP	1.000	C
F11R	50848	genome.wustl.edu	37	1	160969973	160969973	+	Missense_Mutation	SNP	T	T	C	rs574502480		TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr1:160969973T>C	ENST00000368026.6	-	5	828	c.554A>G	c.(553-555)aAc>aGc	p.N185S	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.N136S|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	185	Ig-like V-type 2.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			ATAGGAAGAGTTGCTGAAGGC	0.498													T|||	1	0.000199681	0.0	0.0	5008	,	,		21171	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													138.0	126.0	130.0					1																	160969973		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.554A>G	1.37:g.160969973T>C	ENSP00000357005:p.Asn185Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z941	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.N189S	ENST00000368026.6	37	c.566	CCDS1213.1	1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.268846	0.59540	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.72282	-0.64;-0.64;-0.64	5.16	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	U	0.000108	T	0.76856	0.4046	M	0.66939	2.045	0.47123	D	0.999329	D;D;D;D;D	0.89917	0.997;1.0;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.979;0.998;0.986;0.986;0.986	T	0.79640	-0.1719	10	0.59425	D	0.04	.	11.303	0.49318	0.0:0.0:0.0:1.0	.	189;136;185;185;185	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	S	185;185;185;136;189	ENSP00000357005:N185S;ENSP00000440812:N136S;ENSP00000394809:N189S	ENSP00000289779:N185S	N	-	2	0	F11R	159236597	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	4.732000	0.62029	2.153000	0.67306	0.460000	0.39030	AAC	F11R	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000158769		0.498	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11R	HGNC	protein_coding	OTTHUMT00000071458.3	81	0.00	0	T	NM_016946		160969973	160969973	-1	no_errors	ENST00000436182	ensembl	human	known	69_37n	missense	141	10.76	17	SNP	1.000	C
FIBIN	387758	genome.wustl.edu	37	11	27016367	27016367	+	Silent	SNP	G	G	T			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr11:27016367G>T	ENST00000318627.2	+	1	740	c.294G>T	c.(292-294)ctG>ctT	p.L98L		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	98						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						GGCGCGTGCTGGAGGGCATCA	0.657																																						dbGAP											0													49.0	39.0	42.0					11																	27016367		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971			33747	protein-coding gene	gene with protein product						17196583	Standard	NM_203371		Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.294G>T	11.37:g.27016367G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.L98	ENST00000318627.2	37	c.294	CCDS7861.1	11																																																																																			FIBIN	-	NULL	ENSG00000176971		0.657	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIBIN	HGNC	protein_coding	OTTHUMT00000387945.1	18	0.00	0	G	NM_203371		27016367	27016367	+1	no_errors	ENST00000318627	ensembl	human	known	69_37n	silent	42	23.64	13	SNP	1.000	T
GRIN2C	2905	genome.wustl.edu	37	17	72850911	72850911	+	Silent	SNP	G	G	A			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr17:72850911G>A	ENST00000293190.5	-	2	467	c.321C>T	c.(319-321)atC>atT	p.I107I	GRIN2C_ENST00000347612.4_Silent_p.I107I|GRIN2C_ENST00000578159.1_Intron	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	107					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGAAGTCAAGGATCTGGGCCA	0.617																																						dbGAP											0													80.0	76.0	77.0					17																	72850911		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.321C>T	17.37:g.72850911G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT1	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.I107	ENST00000293190.5	37	c.321	CCDS32724.1	17																																																																																			GRIN2C	-	pfam_ANF_lig-bd_rcpt	ENSG00000161509		0.617	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2C	HGNC	protein_coding	OTTHUMT00000103824.1	27	0.00	0	G			72850911	72850911	-1	no_errors	ENST00000293190	ensembl	human	known	69_37n	silent	92	13.21	14	SNP	1.000	A
HECW2	57520	genome.wustl.edu	37	2	197105255	197105255	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr2:197105255C>A	ENST00000260983.3	-	21	3864	c.3682G>T	c.(3682-3684)Gat>Tat	p.D1228Y	HECW2_ENST00000409111.1_Missense_Mutation_p.D872Y	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1228					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTAAAAGCATCTTCTAGTAAG	0.338																																						dbGAP											0													91.0	94.0	93.0					2																	197105255		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3682G>T	2.37:g.197105255C>A	ENSP00000260983:p.Asp1228Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.D1228Y	ENST00000260983.3	37	c.3682	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524949	0.85600	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.54866	0.55;0.55	4.6	4.6	0.57074	HECT (1);	0.000000	0.85682	D	0.000000	T	0.82171	0.4979	H	0.97103	3.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88678	0.3200	10	0.87932	D	0	.	17.9758	0.89127	0.0:1.0:0.0:0.0	.	1228	Q9P2P5	HECW2_HUMAN	Y	872;1228	ENSP00000386775:D872Y;ENSP00000260983:D1228Y	ENSP00000260983:D1228Y	D	-	1	0	HECW2	196813500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.548000	0.85928	0.655000	0.94253	GAT	HECW2	-	NULL	ENSG00000138411		0.338	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	79	0.00	0	C	NM_020760		197105255	197105255	-1	no_errors	ENST00000260983	ensembl	human	known	69_37n	missense	129	11.03	16	SNP	1.000	A
HIRIP3	8479	genome.wustl.edu	37	16	30005704	30005704	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr16:30005704C>A	ENST00000279392.3	-	4	1592	c.762G>T	c.(760-762)aaG>aaT	p.K254N	HIRIP3_ENST00000566471.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|HIRIP3_ENST00000564026.1_Intron|INO80E_ENST00000563197.1_5'Flank|INO80E_ENST00000567254.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	254					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCCAAtcccccttttcctcat	0.522																																						dbGAP											0													180.0	154.0	163.0					16																	30005704		2197	4300	6497	-	-	-	SO:0001583	missense	0			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.762G>T	16.37:g.30005704C>A	ENSP00000279392:p.Lys254Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BSR3|O75707|O75708	Missense_Mutation	SNP	pfam_Histone_chaperone_domain_CHZ	p.K254N	ENST00000279392.3	37	c.762	CCDS10664.1	16	.	.	.	.	.	.	.	.	.	.	C	2.796	-0.250222	0.05867	.	.	ENSG00000149929	ENST00000279392	T	0.32988	1.43	2.21	1.21	0.21127	.	0.560809	0.14782	N	0.298705	T	0.12817	0.0311	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.11329	0.006	T	0.24368	-1.0162	10	0.28530	T	0.3	-0.8097	4.5831	0.12269	0.0:0.641:0.0:0.359	.	254	Q9BW71	HIRP3_HUMAN	N	254	ENSP00000279392:K254N	ENSP00000279392:K254N	K	-	3	2	HIRIP3	29913205	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.538000	0.06120	-0.099000	0.12263	-0.373000	0.07131	AAG	HIRIP3	-	NULL	ENSG00000149929		0.522	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRIP3	HGNC	protein_coding	OTTHUMT00000255160.2	101	0.00	0	C	NM_003609		30005704	30005704	-1	no_errors	ENST00000279392	ensembl	human	known	69_37n	missense	262	11.45	34	SNP	0.001	A
MRPL20	55052	genome.wustl.edu	37	1	1337496	1337496	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr1:1337496T>G	ENST00000344843.7	-	4	512	c.417A>C	c.(415-417)gaA>gaC	p.E139D	CCNL2_ENST00000400809.3_5'Flank|CCNL2_ENST00000408918.4_5'Flank|MRPL20_ENST00000493287.1_5'UTR	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	139					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AAAAAATGCCTTCAGGTTCCT	0.458																																						dbGAP											0													154.0	146.0	149.0					1																	1337496		2203	4296	6499	-	-	-	SO:0001583	missense	0			AB049644	CCDS26.1	1p36.3-p36.2	2012-09-13			ENSG00000242485	ENSG00000242485		"""Mitochondrial ribosomal proteins / large subunits"""	14478	protein-coding gene	gene with protein product		611833					Standard	NM_017971		Approved	FLJ10024	uc001afo.4	Q9BYC9	OTTHUMG00000002916	ENST00000344843.7:c.417A>C	1.37:g.1337496T>G	ENSP00000341082:p.Glu139Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE41|B7Z746	Missense_Mutation	SNP	pfam_Ribosomal_L20,prints_Ribosomal_L20,tigrfam_Ribosomal_L20	p.E139D	ENST00000344843.7	37	c.417	CCDS26.1	1	.	.	.	.	.	.	.	.	.	.	T	4.203	0.036473	0.08148	.	.	ENSG00000242485	ENST00000344843	.	.	.	5.09	-1.23	0.09465	.	0.329374	0.30501	N	0.009500	T	0.37839	0.1018	L	0.34521	1.04	0.58432	D	0.999992	B	0.09022	0.002	B	0.04013	0.001	T	0.05007	-1.0912	9	0.37606	T	0.19	-13.4934	6.0129	0.19586	0.1198:0.3377:0.0:0.5425	.	139	Q9BYC9	RM20_HUMAN	D	139	.	ENSP00000341082:E139D	E	-	3	2	MRPL20	1327359	0.232000	0.23762	0.038000	0.18304	0.017000	0.09413	-0.383000	0.07398	-0.008000	0.14320	-0.691000	0.03719	GAA	MRPL20	-	NULL	ENSG00000242485		0.458	MRPL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL20	HGNC	protein_coding	OTTHUMT00000008139.1	30	0.00	0	T	NM_017971		1337496	1337496	-1	no_errors	ENST00000344843	ensembl	human	known	69_37n	missense	83	14.43	14	SNP	0.015	G
NT5DC3	51559	genome.wustl.edu	37	12	104208797	104208797	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr12:104208797T>A	ENST00000392876.3	-	2	351	c.311A>T	c.(310-312)gAt>gTt	p.D104V		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	104						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CAAGGTGTAATCATAATCGAA	0.413																																						dbGAP											0													141.0	130.0	134.0					12																	104208797		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.311A>T	12.37:g.104208797T>A	ENSP00000376615:p.Asp104Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.D104V	ENST00000392876.3	37	c.311	CCDS41824.1	12	.	.	.	.	.	.	.	.	.	.	T	27.0	4.791448	0.90367	.	.	ENSG00000111696	ENST00000392876	T	0.54866	0.55	5.87	5.87	0.94306	HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.80193	0.4578	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85450	0.1160	10	0.87932	D	0	-35.2839	16.5764	0.84681	0.0:0.0:0.0:1.0	.	104	Q86UY8	NT5D3_HUMAN	V	104	ENSP00000376615:D104V	ENSP00000376615:D104V	D	-	2	0	NT5DC3	102732927	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	7.628000	0.83189	2.371000	0.80710	0.533000	0.62120	GAT	NT5DC3	-	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	ENSG00000111696		0.413	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5DC3	HGNC	protein_coding	OTTHUMT00000347118.2	68	0.00	0	T	NM_016575		104208797	104208797	-1	no_errors	ENST00000392876	ensembl	human	known	69_37n	missense	107	14.40	18	SNP	1.000	A
PCDHGB4	8641	genome.wustl.edu	37	5	140769344	140769344	+	Silent	SNP	C	C	T			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr5:140769344C>T	ENST00000519479.1	+	1	1893	c.1893C>T	c.(1891-1893)ggC>ggT	p.G631G	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	631	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCTTAGGCGACAGGGACG	0.692																																						dbGAP											0													37.0	42.0	40.0					5																	140769344		2116	4226	6342	-	-	-	SO:0001819	synonymous_variant	0			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1893C>T	5.37:g.140769344C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15099|Q2M267|Q9UN64	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G631	ENST00000519479.1	37	c.1893	CCDS54928.1	5																																																																																			PCDHGB4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253953		0.692	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB4	HGNC	protein_coding	OTTHUMT00000374745.1	25	0.00	0	C	NM_003736		140769344	140769344	+1	no_errors	ENST00000519479	ensembl	human	known	69_37n	silent	111	13.28	17	SNP	0.426	T
PRDM16	63976	genome.wustl.edu	37	1	3329041	3329041	+	Silent	SNP	C	C	T	rs568097564		TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr1:3329041C>T	ENST00000270722.5	+	9	2329	c.2280C>T	c.(2278-2280)gaC>gaT	p.D760D	PRDM16_ENST00000514189.1_Silent_p.D761D|PRDM16_ENST00000511072.1_Silent_p.D761D|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378398.3_Silent_p.D761D|PRDM16_ENST00000441472.2_Silent_p.D760D|PRDM16_ENST00000378391.2_Silent_p.D760D|PRDM16_ENST00000442529.2_Silent_p.D760D			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	760	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CACCCCGGGACGCCCTCAAGG	0.652			T	EVI1	"""MDS, AML"""								C|||	1	0.000199681	0.0008	0.0	5008	,	,		14249	0.0		0.0	False		,,,				2504	0.0					dbGAP		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0													52.0	60.0	58.0					1																	3329041		2021	4158	6179	-	-	-	SO:0001819	synonymous_variant	0			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2280C>T	1.37:g.3329041C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.D760	ENST00000270722.5	37	c.2280	CCDS41236.2	1																																																																																			PRDM16	-	NULL	ENSG00000142611		0.652	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	HGNC	protein_coding	OTTHUMT00000001382.3	8	0.00	0	C	NM_022114		3329041	3329041	+1	no_errors	ENST00000270722	ensembl	human	known	69_37n	silent	21	25.00	7	SNP	0.995	T
PTBP3	9991	genome.wustl.edu	37	9	114997150	114997150	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr9:114997150T>A	ENST00000374255.2	-	9	1061	c.914A>T	c.(913-915)tAt>tTt	p.Y305F	PTBP3_ENST00000334318.6_Missense_Mutation_p.Y308F|PTBP3_ENST00000458258.1_Missense_Mutation_p.Y311F|PTBP3_ENST00000343327.2_Missense_Mutation_p.Y210F|PTBP3_ENST00000374257.1_Missense_Mutation_p.Y277F			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	305					anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AGCCCCTGCATATGGTGAAGA	0.373																																						dbGAP											0													59.0	60.0	60.0					9																	114997150		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.914A>T	9.37:g.114997150T>A	ENSP00000363373:p.Tyr305Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.Y311F	ENST00000374255.2	37	c.932	CCDS6784.1	9	.	.	.	.	.	.	.	.	.	.	T	14.42	2.530994	0.45073	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	T;T;T;T;T	0.55930	0.5;0.5;0.49;0.49;1.51	4.93	4.93	0.64822	.	0.286599	0.34628	N	0.003811	T	0.45756	0.1358	L	0.43152	1.355	0.54753	D	0.999984	B;B;B;B;B;P	0.36599	0.424;0.025;0.105;0.002;0.014;0.56	B;B;B;B;B;B	0.39465	0.157;0.049;0.015;0.002;0.022;0.3	T	0.32771	-0.9894	10	0.11182	T	0.66	-6.1892	14.7463	0.69492	0.0:0.0:0.0:1.0	.	277;277;210;308;305;311	B1ALY5;O95758-2;B1ALY6;O95758-5;O95758;O95758-4	.;.;.;.;ROD1_HUMAN;.	F	277;308;311;305;210	ENSP00000363375:Y277F;ENSP00000334499:Y308F;ENSP00000414921:Y311F;ENSP00000363373:Y305F;ENSP00000340705:Y210F	ENSP00000334499:Y308F	Y	-	2	0	ROD1	114036971	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.416000	0.73332	2.060000	0.61445	0.533000	0.62120	TAT	PTBP3	-	tigrfam_HnRNP-L_PTB	ENSG00000119314		0.373	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	26	0.00	0	T			114997150	114997150	-1	no_errors	ENST00000458258	ensembl	human	known	69_37n	missense	57	20.83	15	SNP	1.000	A
RAD54B	25788	genome.wustl.edu	37	8	95403934	95403934	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr8:95403934C>T	ENST00000336148.5	-	10	1836	c.1712G>A	c.(1711-1713)tGc>tAc	p.C571Y		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	571					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CCCTTGAAGGCAGAACCTGAC	0.403								Direct reversal of damage;Homologous recombination																														dbGAP											0													119.0	120.0	120.0					8																	95403934		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.1712G>A	8.37:g.95403934C>T	ENSP00000336606:p.Cys571Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	F6WBS8	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.C571Y	ENST00000336148.5	37	c.1712	CCDS6262.1	8	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654774	0.88056	.	.	ENSG00000197275	ENST00000336148;ENST00000546218	T	0.75260	-0.92	5.11	5.11	0.69529	SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.81148	0.4762	L	0.49126	1.545	0.80722	D	1	D	0.67145	0.996	D	0.68621	0.959	T	0.75042	-0.3457	10	0.10377	T	0.69	-2.2569	18.9031	0.92451	0.0:1.0:0.0:0.0	.	571	Q9Y620	RA54B_HUMAN	Y	571;243	ENSP00000336606:C571Y	ENSP00000336606:C571Y	C	-	2	0	RAD54B	95473110	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.520000	0.84964	0.650000	0.86243	TGC	RAD54B	-	pfam_SNF2_N	ENSG00000197275		0.403	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	28	0.00	0	C	NM_012415		95403934	95403934	-1	no_errors	ENST00000336148	ensembl	human	known	69_37n	missense	77	22.22	22	SNP	1.000	T
RAPGEF6	51735	genome.wustl.edu	37	5	130857147	130857147	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr5:130857147G>C	ENST00000509018.1	-	7	768	c.563C>G	c.(562-564)tCt>tGt	p.S188C	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S188C|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S238C|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.S188C|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S188C|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S188C|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S188C	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	188					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGACTGACTAGAAGACACATG	0.383																																					Melanoma(168;435 1955 13113 13877 23213)	dbGAP											0													110.0	103.0	106.0					5																	130857147		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.563C>G	5.37:g.130857147G>C	ENSP00000421684:p.Ser188Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S188C	ENST00000509018.1	37	c.563	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.128118	0.94473	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000513227;ENST00000504575;ENST00000504039;ENST00000514667	T;T;T;T;T;T;T;T	0.54479	1.65;1.56;1.57;1.65;1.48;2.03;0.57;1.75	5.95	5.95	0.96441	.	0.132141	0.52532	D	0.000068	T	0.73249	0.3563	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.998;0.998;0.998;0.999;0.996	D;D;D;D;D;P	0.68621	0.91;0.91;0.944;0.91;0.959;0.88	T	0.73786	-0.3873	10	0.72032	D	0.01	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	188;188;188;238;188;188	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	C	188;188;188;188;188;188;188;16;41;41;238	ENSP00000421684:S188C;ENSP00000309298:S188C;ENSP00000426081:S188C;ENSP00000296859:S188C;ENSP00000311419:S188C;ENSP00000425389:S188C;ENSP00000424574:S16C;ENSP00000426948:S238C	ENSP00000426948:S238C	S	-	2	0	RAPGEF6;FNIP1	130885046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.824000	0.97209	0.655000	0.94253	TCT	RAPGEF6	-	NULL	ENSG00000158987		0.383	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1	45	0.00	0	G	NM_016340		130857147	130857147	-1	no_errors	ENST00000509018	ensembl	human	known	69_37n	missense	84	12.50	12	SNP	1.000	C
SERTAD4	56256	genome.wustl.edu	37	1	210415429	210415429	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr1:210415429T>C	ENST00000367012.3	+	4	1048	c.818T>C	c.(817-819)cTt>cCt	p.L273P	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	273						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GTCAGATCACTTGGTGTTCAG	0.448																																						dbGAP											0													68.0	62.0	64.0					1																	210415429		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.818T>C	1.37:g.210415429T>C	ENSP00000355979:p.Leu273Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD32	Missense_Mutation	SNP	pfam_SERTA,pfscan_SERTA	p.L273P	ENST00000367012.3	37	c.818	CCDS1494.1	1	.	.	.	.	.	.	.	.	.	.	T	6.785	0.513725	0.12944	.	.	ENSG00000082497	ENST00000367012	.	.	.	5.24	2.63	0.31362	.	0.281213	0.29139	N	0.013025	T	0.25680	0.0625	N	0.08118	0	0.46823	D	0.999217	B	0.02656	0.0	B	0.01281	0.0	T	0.05937	-1.0855	9	0.39692	T	0.17	-1.5281	2.9375	0.05819	0.2537:0.3142:0.0:0.4321	.	273	Q9NUC0	SRTD4_HUMAN	P	273	.	ENSP00000355979:L273P	L	+	2	0	SERTAD4	208482052	0.753000	0.28349	0.915000	0.36163	0.983000	0.72400	1.405000	0.34635	0.951000	0.37770	0.533000	0.62120	CTT	SERTAD4	-	NULL	ENSG00000082497		0.448	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERTAD4	HGNC	protein_coding	OTTHUMT00000088577.1	43	0.00	0	T	NM_019605		210415429	210415429	+1	no_errors	ENST00000367012	ensembl	human	known	69_37n	missense	108	13.60	17	SNP	0.686	C
SLC25A30	253512	genome.wustl.edu	37	13	45983070	45983070	+	Silent	SNP	G	G	A			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr13:45983070G>A	ENST00000539591.1	-	2	214	c.51C>T	c.(49-51)ctC>ctT	p.L17L				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	68					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		ACCCCGAGTAGAGTGCTTTCA	0.438																																						dbGAP											0													184.0	164.0	170.0					13																	45983070		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"""Solute carriers"""	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.51C>T	13.37:g.45983070G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN96|B4DZK3|F5H8H8	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier	p.L68	ENST00000539591.1	37	c.204		13																																																																																			SLC25A30	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000174032		0.438	SLC25A30-201	KNOWN	basic	protein_coding	SLC25A30	HGNC	protein_coding		66	0.00	0	G	XM_170736		45983070	45983070	-1	no_errors	ENST00000519676	ensembl	human	known	69_37n	silent	129	12.84	19	SNP	0.996	A
SPTA1	6708	genome.wustl.edu	37	1	158637768	158637768	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr1:158637768T>G	ENST00000368147.4	-	15	2098	c.1918A>C	c.(1918-1920)Ata>Cta	p.I640L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	640					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTTTCTGTATGTTTTCCAGC	0.458																																						dbGAP											0													175.0	170.0	171.0					1																	158637768		1865	4101	5966	-	-	-	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1918A>C	1.37:g.158637768T>G	ENSP00000357129:p.Ile640Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.I640L	ENST00000368147.4	37	c.1918	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.693292	0.00731	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.42900	0.96;0.96	4.95	-5.68	0.02436	.	1.331230	0.05978	N	0.643634	T	0.02848	0.0085	N	0.02111	-0.68	0.09310	N	1	B	0.02656	0.0	B	0.15870	0.014	T	0.14227	-1.0480	10	0.02654	T	1	.	5.36	0.16083	0.2585:0.0:0.2855:0.456	.	640	P02549	SPTA1_HUMAN	L	640	ENSP00000357130:I640L;ENSP00000357129:I640L	ENSP00000357129:I640L	I	-	1	0	SPTA1	156904392	0.905000	0.30787	0.000000	0.03702	0.067000	0.16453	0.499000	0.22546	-1.526000	0.01760	-1.116000	0.02052	ATA	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.458	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	123	0.81	1	T	NM_003126		158637768	158637768	-1	no_errors	ENST00000368148	ensembl	human	known	69_37n	missense	220	19.12	52	SNP	0.075	G
SSTR4	6754	genome.wustl.edu	37	20	23016467	23016467	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr20:23016467C>T	ENST00000255008.3	+	1	411	c.347C>T	c.(346-348)tCc>tTc	p.S116F	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	116					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCCTTCGGCTCCGTGCTGTGC	0.662																																					Esophageal Squamous(15;850 1104 16640)	dbGAP											0													80.0	80.0	80.0					20																	23016467		2196	4296	6492	-	-	-	SO:0001583	missense	0				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.347C>T	20.37:g.23016467C>T	ENSP00000255008:p.Ser116Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Somatstn_rcpt_4,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1	p.S116F	ENST00000255008.3	37	c.347	CCDS42856.1	20	.	.	.	.	.	.	.	.	.	.	C	14.50	2.552953	0.45487	.	.	ENSG00000132671	ENST00000255008	T	0.73152	-0.72	3.72	1.74	0.24563	GPCR, rhodopsin-like superfamily (1);	0.626460	0.13632	U	0.373640	T	0.77336	0.4115	M	0.70903	2.155	0.09310	N	1	P	0.36110	0.537	P	0.53266	0.722	T	0.68762	-0.5323	10	0.87932	D	0	.	5.1104	0.14806	0.0:0.6159:0.1739:0.2102	.	116	P31391	SSR4_HUMAN	F	116	ENSP00000255008:S116F	ENSP00000255008:S116F	S	+	2	0	SSTR4	22964467	0.006000	0.16342	0.001000	0.08648	0.533000	0.34776	2.155000	0.42301	0.240000	0.21263	0.655000	0.94253	TCC	SSTR4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000132671		0.662	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR4	HGNC	protein_coding	OTTHUMT00000078308.1	23	0.00	0	C			23016467	23016467	+1	no_errors	ENST00000255008	ensembl	human	known	69_37n	missense	101	17.89	22	SNP	0.003	T
SYMPK	8189	genome.wustl.edu	37	19	46341822	46341822	+	Missense_Mutation	SNP	G	G	A	rs111641417		TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr19:46341822G>A	ENST00000245934.7	-	10	1383	c.1139C>T	c.(1138-1140)tCg>tTg	p.S380L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	380					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGAGGTCCCCGACGGGCCTGG	0.582																																						dbGAP											0													66.0	57.0	60.0					19																	46341822		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1139C>T	19.37:g.46341822G>A	ENSP00000245934:p.Ser380Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.S380L	ENST00000245934.7	37	c.1139	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254703	0.22965	.	.	ENSG00000125755	ENST00000245934	.	.	.	5.87	5.87	0.94306	Armadillo-type fold (1);	0.380726	0.27266	N	0.020160	T	0.33876	0.0878	N	0.17082	0.46	0.21553	N	0.999649	B;B	0.16396	0.017;0.001	B;B	0.09377	0.004;0.0	T	0.08330	-1.0727	9	0.20519	T	0.43	.	17.7724	0.88496	0.0:0.0:1.0:0.0	.	395;380	Q4LE61;Q92797	.;SYMPK_HUMAN	L	380	.	ENSP00000245934:S380L	S	-	2	0	SYMPK	51033662	0.976000	0.34144	0.097000	0.21041	0.286000	0.27126	3.908000	0.56355	2.798000	0.96311	0.650000	0.86243	TCG	SYMPK	-	superfamily_ARM-type_fold	ENSG00000125755		0.582	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	27	0.00	0	G	NM_004819		46341822	46341822	-1	no_errors	ENST00000245934	ensembl	human	known	69_37n	missense	70	13.58	11	SNP	0.191	A
TEP1	7011	genome.wustl.edu	37	14	20871929	20871929	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr14:20871929G>A	ENST00000262715.5	-	6	1187	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	383	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGGTGCTTCCGAGGGTTGTAC	0.617																																						dbGAP											0													85.0	93.0	90.0					14																	20871929		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1147C>T	14.37:g.20871929G>A	ENSP00000262715:p.Arg383Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R383W	ENST00000262715.5	37	c.1147	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432084	0.62844	.	.	ENSG00000129566	ENST00000262715;ENST00000359243	T	0.54071	0.59	5.54	4.62	0.57501	TROVE (2);	0.060374	0.64402	N	0.000005	T	0.41328	0.1154	L	0.46157	1.445	0.80722	D	1	P	0.37276	0.589	B	0.32980	0.156	T	0.37033	-0.9723	10	0.51188	T	0.08	-16.8865	7.7045	0.28642	0.087:0.0:0.7533:0.1597	.	383	Q99973	TEP1_HUMAN	W	383	ENSP00000262715:R383W	ENSP00000262715:R383W	R	-	1	2	TEP1	19941769	0.984000	0.35163	0.995000	0.50966	0.988000	0.76386	1.803000	0.38863	1.271000	0.44313	0.655000	0.94253	CGG	TEP1	-	pfam_TROVE,pfscan_TROVE	ENSG00000129566		0.617	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	47	0.00	0	G	NM_007110		20871929	20871929	-1	no_errors	ENST00000262715	ensembl	human	known	69_37n	missense	75	10.71	9	SNP	0.999	A
THRAP3	9967	genome.wustl.edu	37	1	36751975	36751975	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr1:36751975G>C	ENST00000354618.5	+	4	368	c.144G>C	c.(142-144)agG>agC	p.R48S	THRAP3_ENST00000469141.2_Missense_Mutation_p.R48S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	48	Arg-rich.|Required for mRNA splicing activation.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGTTCTAGGTCTCGTTCCA	0.388			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	dbGAP		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													79.0	82.0	81.0					1																	36751975		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.144G>C	1.37:g.36751975G>C	ENSP00000346634:p.Arg48Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPS5|Q5VTK6	Missense_Mutation	SNP	NULL	p.R48S	ENST00000354618.5	37	c.144	CCDS405.1	1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326185	0.41197	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.38077	1.16;1.16	5.61	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.57621	0.2066	M	0.66939	2.045	0.58432	D	0.99999	D	0.76494	0.999	D	0.80764	0.994	T	0.62343	-0.6874	10	0.87932	D	0	-18.6632	13.9632	0.64194	0.073:0.0:0.927:0.0	.	48	Q9Y2W1	TR150_HUMAN	S	48	ENSP00000346634:R48S;ENSP00000433825:R48S	ENSP00000346634:R48S	R	+	3	2	THRAP3	36524562	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.730000	0.47335	1.512000	0.48834	-0.140000	0.14226	AGG	THRAP3	-	NULL	ENSG00000054118		0.388	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	HGNC	protein_coding	OTTHUMT00000021688.2	36	0.00	0	G	NM_005119		36751975	36751975	+1	no_errors	ENST00000354618	ensembl	human	known	69_37n	missense	66	12.00	9	SNP	1.000	C
TIMM50	92609	genome.wustl.edu	37	19	39973556	39973556	+	Splice_Site	SNP	G	G	A			TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr19:39973556G>A	ENST00000607714.1	+	3	313	c.291G>A	c.(289-291)aaG>aaA	p.K97K	TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000314349.4_Splice_Site_p.K200K|TIMM50_ENST00000544017.1_Splice_Site_p.R4K			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	97					cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATGGTGCCAAGGTGAGGGGGA	0.592																																						dbGAP											0													89.0	93.0	92.0					19																	39973556		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8		ENST00000607714.1:c.291+1G>A	19.37:g.39973556G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF	p.R4K	ENST00000607714.1	37	c.11		19	.	.	.	.	.	.	.	.	.	.	G	6.028	0.373450	0.11409	.	.	ENSG00000105197	ENST00000544017	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	T	0.44871	0.1314	.	.	.	0.25797	N	0.98455	.	.	.	.	.	.	T	0.33240	-0.9876	4	.	.	.	-20.1438	14.3403	0.66622	0.0:0.0:1.0:0.0	.	.	.	.	K	4	.	.	R	+	2	0	TIMM50	44665396	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.414000	0.59802	2.356000	0.79943	0.563000	0.77884	AGA	TIMM50	-	NULL	ENSG00000105197		0.592	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	TIMM50	HGNC	protein_coding	OTTHUMT00000470728.1	41	0.00	0	G	NM_001001563	Silent	39973556	39973556	+1	no_errors	ENST00000544017	ensembl	human	known	69_37n	missense	63	13.70	10	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-BH-A1FU-01A-11D-A14G-09	TCGA-BH-A1FU-11A-23D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9efd4bfb-d4e4-487e-8d1c-a19c2d62e3cf	ff70699f-0fd1-4c30-9e3f-76c239c2da8c	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	-	-	-	SO:0001583	missense	0	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	Somatic		WXS	Illumina GAIIx	Phase_IV	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	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	25	0.00	0	C	NM_000546		7578406	7578406	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	63	23.17	19	SNP	1.000	T
