#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_ORegAnno_bin	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
ACOT2	10965	genome.wustl.edu	37	14	74042019	74042019	+	Silent	SNP	A	A	G			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr14:74042019A>G	ENST00000238651.5	+	3	1436	c.1254A>G	c.(1252-1254)ccA>ccG	p.P418P	ACOT2_ENST00000538782.1_Silent_p.P221P	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	418					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		TCTGTTACCCAGAGACAGGGC	0.557																																						dbGAP											0													3.0	4.0	3.0					14																	74042019		1089	2470	3559	-	-	-	SO:0001819	synonymous_variant	0			AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.1254A>G	14.37:g.74042019A>G			Q3I5F8|Q53EK4|Q9NUX4	Silent	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.P418	ENST00000238651.5	37	c.1254	CCDS9816.1	14																																																																																			ACOT2	-	pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000119673		0.557	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT2	HGNC	protein_coding	OTTHUMT00000414435.1	93	0.00	0	A	NM_006821		74042019	74042019	+1	no_errors	ENST00000238651	ensembl	human	known	69_37n	silent	133	13.07	20	SNP	0.010	G
ACTN4	81	genome.wustl.edu	37	19	39196735	39196735	+	Missense_Mutation	SNP	C	C	G	rs149027682	byFrequency	TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr19:39196735C>G	ENST00000252699.2	+	5	612	c.536C>G	c.(535-537)cCg>cGg	p.P179R	ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	179	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Polyphosphoinositide (PIP2)-binding. {ECO:0000255}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAGACAGCCCCGTATAAGAAC	0.517																																					Colon(168;199 1940 10254 46213 46384)	dbGAP											0													119.0	102.0	108.0					19																	39196735		2203	4300	6503	-	-	-	SO:0001583	missense	0			D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.536C>G	19.37:g.39196735C>G	ENSP00000252699:p.Pro179Arg		A4K467|D6PXK4|O76048	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.P179R	ENST00000252699.2	37	c.536	CCDS12518.1	19	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440780	0.83993	.	.	ENSG00000130402	ENST00000252699;ENST00000445727	D	0.95342	-3.68	4.22	4.22	0.49857	Calponin homology domain (5);	0.000000	0.64402	D	0.000001	D	0.96163	0.8749	L	0.55213	1.73	0.80722	D	1	D;B	0.89917	1.0;0.433	D;P	0.87578	0.998;0.552	D	0.96513	0.9380	10	0.66056	D	0.02	.	15.8807	0.79201	0.0:1.0:0.0:0.0	.	179;179	E7EV83;O43707	.;ACTN4_HUMAN	R	179	ENSP00000252699:P179R	ENSP00000252699:P179R	P	+	2	0	ACTN4	43888575	1.000000	0.71417	0.576000	0.28549	0.937000	0.57800	7.415000	0.80131	2.344000	0.79699	0.555000	0.69702	CCG	ACTN4	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000130402		0.517	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	36	0.00	0	C			39196735	39196735	+1	no_errors	ENST00000252699	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	1.000	G
AGPAT1	10554	genome.wustl.edu	37	6	32138201	32138201	+	Splice_Site	SNP	C	C	T			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr6:32138201C>T	ENST00000395499.1	-	4	1090		c.e4+1		AGPAT1_ENST00000336984.6_Splice_Site|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000395497.1_Splice_Site|AGPAT1_ENST00000375107.3_Splice_Site|AGPAT1_ENST00000395496.1_Splice_Site|AGPAT1_ENST00000375104.2_Splice_Site|AGPAT1_ENST00000412465.2_Splice_Site|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1						CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GGATGACTCACGTCCTGGGTG	0.557																																						dbGAP											0													66.0	70.0	68.0					6																	32138201		1511	2709	4220	-	-	-	SO:0001630	splice_region_variant	0			U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.510+1G>A	6.37:g.32138201C>T			A2BFI5|Q5BL03	Splice_Site	SNP	-	e3+1	ENST00000395499.1	37	c.510+1	CCDS4744.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.604014|4.604014	0.87157|0.87157	.|.	.|.	ENSG00000204310|ENSG00000204310	ENST00000395496;ENST00000375107;ENST00000395499;ENST00000375104;ENST00000395497;ENST00000336984;ENST00000412465|ENST00000538952	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70736	.|0.3258	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72124	.|-0.4385	.|5	.|0.56958	.|D	.|0.05	.|.	17.2301|17.2301	0.86982|0.86982	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|M	-1|75	.|.	.|ENSP00000446173:V75M	.|V	-|-	.|1	.|0	AGPAT1|AGPAT1	32246179|32246179	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.976000|6.976000	0.76135|0.76135	2.678000|2.678000	0.91216|0.91216	0.655000|0.655000	0.94253|0.94253	.|GTG	AGPAT1	-	-	ENSG00000204310		0.557	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT1	HGNC	protein_coding	OTTHUMT00000268941.1	56	0.00	0	C	NM_006411	Intron	32138201	32138201	-1	no_errors	ENST00000336984	ensembl	human	known	69_37n	splice_site	76	23.23	23	SNP	1.000	T
ARHGAP36	158763	genome.wustl.edu	37	X	130219619	130219619	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chrX:130219619C>A	ENST00000276211.5	+	8	1358	c.1013C>A	c.(1012-1014)cCc>cAc	p.P338H	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P326H|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.P202H	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	338	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGATGCCACCCTGCCACAGT	0.512																																						dbGAP											0													204.0	206.0	205.0					X																	130219619		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1013C>A	X.37:g.130219619C>A	ENSP00000276211:p.Pro338His		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P338H	ENST00000276211.5	37	c.1013	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729117	0.69074	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	4.88	4.88	0.63580	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.295883	0.24771	N	0.035740	T	0.37758	0.1015	M	0.73319	2.225	0.45502	D	0.998467	P;P;D	0.54047	0.895;0.956;0.964	P;P;P	0.55112	0.658;0.76;0.769	T	0.21143	-1.0254	10	0.72032	D	0.01	.	12.1001	0.53778	0.0:1.0:0.0:0.0	.	307;326;338	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	H	338;326;307;202	ENSP00000276211:P338H;ENSP00000359960:P326H;ENSP00000408515:P307H;ENSP00000359959:P202H	ENSP00000276211:P338H	P	+	2	0	ARHGAP36	130047300	0.990000	0.36364	0.997000	0.53966	0.969000	0.65631	6.599000	0.74127	2.243000	0.73865	0.600000	0.82982	CCC	ARHGAP36	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000147256		0.512	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	709	0.00	0	C	NM_144967		130219619	130219619	+1	no_errors	ENST00000276211	ensembl	human	known	69_37n	missense	140	75.61	434	SNP	0.984	A
ATP8B1	5205	genome.wustl.edu	37	18	55328529	55328529	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr18:55328529C>A	ENST00000283684.4	-	21	2583	c.2584G>T	c.(2584-2586)Gca>Tca	p.A862S	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.A862S|RP11-35G9.3_ENST00000592201.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	862					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CAGATGACTGCGCTGCACTCG	0.562																																						dbGAP											0													92.0	85.0	88.0					18																	55328529		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2584G>T	18.37:g.55328529C>A	ENSP00000283684:p.Ala862Ser		Q9BTP8	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.A862S	ENST00000283684.4	37	c.2584	CCDS11965.1	18	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400775	0.62177	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	D;D	0.85258	-1.96;-1.96	5.7	5.7	0.88788	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76863	0.4047	N	0.20845	0.615	0.80722	D	1	P	0.34412	0.453	B	0.34242	0.178	T	0.77376	-0.2611	10	0.48119	T	0.1	.	15.0923	0.72204	0.1424:0.8576:0.0:0.0	.	862	O43520	AT8B1_HUMAN	S	862	ENSP00000283684:A862S;ENSP00000445359:A862S	ENSP00000283684:A862S	A	-	1	0	ATP8B1	53479527	1.000000	0.71417	0.736000	0.30914	0.926000	0.56050	5.945000	0.70226	2.692000	0.91855	0.557000	0.71058	GCA	ATP8B1	-	superfamily_HAD-like_dom	ENSG00000081923		0.562	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1	65	0.00	0	C	NM_005603		55328529	55328529	-1	no_errors	ENST00000283684	ensembl	human	known	69_37n	missense	218	11.38	28	SNP	1.000	A
CCM2L	140706	genome.wustl.edu	37	20	30605793	30605793	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr20:30605793G>T	ENST00000300415.8	+	4	307	c.294G>T	c.(292-294)gaG>gaT	p.E98D	CCM2L_ENST00000262659.8_Missense_Mutation_p.E98D			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	98																	AGCTGAAGGAGCTGCCGCTGA	0.637																																						dbGAP											0													30.0	32.0	31.0					20																	30605793		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.294G>T	20.37:g.30605793G>T	ENSP00000300415:p.Glu98Asp		Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	NULL	p.E98D	ENST00000300415.8	37	c.294		20	.	.	.	.	.	.	.	.	.	.	G	17.21	3.330988	0.60853	.	.	ENSG00000101331	ENST00000300415;ENST00000339619;ENST00000262659	T;T	0.38240	1.15;1.15	4.8	4.8	0.61643	.	0.180758	0.47852	D	0.000207	T	0.35566	0.0936	L	0.54323	1.7	0.29856	N	0.828026	P	0.48294	0.908	B	0.42593	0.392	T	0.33599	-0.9862	10	0.25751	T	0.34	-40.8192	14.9306	0.70911	0.0:0.0:1.0:0.0	.	98	Q9NUG4-2	.	D	98	ENSP00000300415:E98D;ENSP00000262659:E98D	ENSP00000262659:E98D	E	+	3	2	C20orf160	30069454	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.973000	0.40550	2.366000	0.80165	0.305000	0.20034	GAG	C20orf160	-	NULL	ENSG00000101331		0.637	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	C20orf160	HGNC	protein_coding		34	0.00	0	G	NM_080625		30605793	30605793	+1	no_errors	ENST00000300415	ensembl	human	known	69_37n	missense	39	26.42	14	SNP	1.000	T
SIMC1	375484	genome.wustl.edu	37	5	175717932	175717932	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr5:175717932C>G	ENST00000443967.1	+	4	1755	c.1348C>G	c.(1348-1350)Cta>Gta	p.L450V	SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.L469V|SIMC1_ENST00000430704.2_Intron			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	450							SUMO polymer binding (GO:0032184)										CTTTCAGACGCTAATACCGGA	0.488																																						dbGAP											0													42.0	30.0	35.0					5																	175717932		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1348C>G	5.37:g.175717932C>G	ENSP00000406571:p.Leu450Val		J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	NULL	p.L450V	ENST00000443967.1	37	c.1348		5	.	.	.	.	.	.	.	.	.	.	C	12.02	1.812042	0.32053	.	.	ENSG00000170085	ENST00000443967;ENST00000429602	T;T	0.60920	0.15;0.15	4.7	1.81	0.25067	.	0.298240	0.22777	N	0.055761	T	0.62245	0.2412	.	.	.	0.20196	N	0.999928	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.986	T	0.51156	-0.8741	9	0.18710	T	0.47	-20.8458	6.6208	0.22802	0.0:0.6774:0.0:0.3226	.	469;450	B4DRM7;Q8NDZ2	.;CE025_HUMAN	V	450;469	ENSP00000406571:L450V;ENSP00000410552:L469V	ENSP00000410552:L469V	L	+	1	2	C5orf25	175650538	0.059000	0.20769	0.683000	0.30040	0.888000	0.51559	-0.032000	0.12266	0.547000	0.28938	0.603000	0.83216	CTA	C5orf25	-	NULL	ENSG00000170085		0.488	SIMC1-001	KNOWN	basic	protein_coding	C5orf25	HGNC	protein_coding	OTTHUMT00000253155.2	63	0.00	0	C	NM_198567		175717932	175717932	+1	no_errors	ENST00000443967	ensembl	human	known	69_37n	missense	250	22.84	74	SNP	0.656	G
C9orf131	138724	genome.wustl.edu	37	9	35044467	35044467	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr9:35044467C>A	ENST00000312292.5	+	2	1888	c.1841C>A	c.(1840-1842)gCc>gAc	p.A614D	C9orf131_ENST00000421362.2_Missense_Mutation_p.A566D|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.A541D	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	614										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTGCATGGAGCCAGCCCTCTG	0.498																																						dbGAP											0													115.0	115.0	115.0					9																	35044467		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.1841C>A	9.37:g.35044467C>A	ENSP00000308279:p.Ala614Asp		A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.A614D	ENST00000312292.5	37	c.1841	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531614	0.27387	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.18657	2.21;2.2;2.21	4.46	-0.825	0.10809	.	1.635690	0.03551	N	0.225558	T	0.17280	0.0415	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.17465	0.022;0.022;0.022;0.022	B;B;B;B	0.19391	0.025;0.025;0.025;0.025	T	0.31641	-0.9936	10	0.56958	D	0.05	1.7719	5.3247	0.15901	0.1351:0.5213:0.0:0.3436	.	89;614;541;566	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	D	566;541;614;89	ENSP00000393683:A566D;ENSP00000346472:A541D;ENSP00000308279:A614D	ENSP00000308279:A614D	A	+	2	0	C9orf131	35034467	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	-0.398000	0.07259	-0.546000	0.06216	-0.797000	0.03246	GCC	C9orf131	-	NULL	ENSG00000174038		0.498	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	446	0.00	0	C	NM_203299		35044467	35044467	+1	no_errors	ENST00000312292	ensembl	human	known	69_37n	missense	103	73.62	293	SNP	0.001	A
CADM2	253559	genome.wustl.edu	37	3	85935421	85935421	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr3:85935421C>G	ENST00000407528.2	+	4	508	c.446C>G	c.(445-447)tCt>tGt	p.S149C	CADM2_ENST00000405615.2_Missense_Mutation_p.S151C|CADM2_ENST00000383699.3_Missense_Mutation_p.S158C	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	149	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TGCAAAACATCTGGTAGTAAA	0.363																																						dbGAP											0													86.0	80.0	82.0					3																	85935421		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.446C>G	3.37:g.85935421C>G	ENSP00000384575:p.Ser149Cys		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.S151C	ENST00000407528.2	37	c.452	CCDS54614.1	3	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425602	0.62733	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.76578	-1.03;-1.03;-1.03	5.43	5.43	0.79202	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.159484	0.56097	D	0.000021	D	0.89577	0.6755	M	0.87097	2.86	0.48762	D	0.999701	D;D;D	0.89917	1.0;0.997;0.999	D;P;D	0.68621	0.959;0.843;0.921	D	0.90265	0.4303	10	0.52906	T	0.07	.	19.2528	0.93932	0.0:1.0:0.0:0.0	.	151;158;149	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	C	158;149;151	ENSP00000373200:S158C;ENSP00000384575:S149C;ENSP00000384193:S151C	ENSP00000373200:S158C	S	+	2	0	CADM2	86018111	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	4.464000	0.60134	2.538000	0.85594	0.650000	0.86243	TCT	CADM2	-	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Ig_C1-set,pfscan_Ig-like	ENSG00000175161		0.363	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	HGNC	protein_coding	OTTHUMT00000352822.1	64	0.00	0	C	NM_153184		85935421	85935421	+1	no_errors	ENST00000405615	ensembl	human	known	69_37n	missense	81	34.15	42	SNP	0.996	G
CBLB	868	genome.wustl.edu	37	3	105495384	105495384	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr3:105495384C>T	ENST00000264122.4	-	4	743	c.422G>A	c.(421-423)cGa>cAa	p.R141Q	CBLB_ENST00000403724.1_Missense_Mutation_p.R141Q|CBLB_ENST00000394027.3_Missense_Mutation_p.R163Q|CBLB_ENST00000545639.1_Intron|CBLB_ENST00000405772.1_Missense_Mutation_p.R141Q	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	141	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGTGAGATTTCGTCTGTAGGC	0.343			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	dbGAP		Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0													104.0	102.0	103.0					3																	105495384		2203	4300	6503	-	-	-	SO:0001583	missense	0			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.422G>A	3.37:g.105495384C>T	ENSP00000264122:p.Arg141Gln		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.R141Q	ENST00000264122.4	37	c.422	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.456835	0.96223	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.79	5.79	0.91817	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.057808	0.64402	D	0.000002	D	0.92378	0.7581	M	0.71871	2.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.992;0.998	D	0.92439	0.5960	10	0.87932	D	0	-11.1062	20.0206	0.97499	0.0:1.0:0.0:0.0	.	163;141;141	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	Q	141;163;141;141	ENSP00000264122:R141Q;ENSP00000377595:R163Q;ENSP00000384816:R141Q;ENSP00000384938:R141Q	ENSP00000264122:R141Q	R	-	2	0	CBLB	106978074	1.000000	0.71417	0.969000	0.41365	0.914000	0.54420	7.818000	0.86416	2.745000	0.94114	0.557000	0.71058	CGA	CBLB	-	pfam_Adaptor_Cbl_N_hlx,superfamily_Adaptor_Cbl_N_hlx	ENSG00000114423		0.343	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	193	0.00	0	C	NM_170662		105495384	105495384	-1	no_errors	ENST00000264122	ensembl	human	known	69_37n	missense	460	11.18	58	SNP	1.000	T
CCDC30	728621	genome.wustl.edu	37	1	43032078	43032078	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr1:43032078C>T	ENST00000340612.4	+	5	787	c.787C>T	c.(787-789)Cga>Tga	p.R263*	RNU6-536P_ENST00000363384.1_RNA|CCDC30_ENST00000428554.2_Nonsense_Mutation_p.R263*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.R52*|CCDC30_ENST00000390640.4_Nonsense_Mutation_p.R52*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.R263*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	263						extracellular vesicular exosome (GO:0070062)		p.R263*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAATGAGCTTCGATATGAACG	0.408																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											94.0	90.0	91.0					1																	43032078		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.787C>T	1.37:g.43032078C>T	ENSP00000340378:p.Arg263*		Q14F06|Q5VVM5	Nonsense_Mutation	SNP	NULL	p.R263*	ENST00000340612.4	37	c.787	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986306	0.93044	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	.	.	.	5.83	4.92	0.64577	.	0.252263	0.39759	N	0.001269	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1432	0.65334	0.1511:0.8489:0.0:0.0	.	.	.	.	X	263;52;263;263;52	.	ENSP00000340378:R263X	R	+	1	2	CCDC30	42804665	0.997000	0.39634	0.999000	0.59377	0.998000	0.95712	1.473000	0.35387	1.455000	0.47813	0.655000	0.94253	CGA	CCDC30	-	NULL	ENSG00000186409		0.408	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding	OTTHUMT00000019524.3	129	0.00	0	C	NM_025030		43032078	43032078	+1	no_errors	ENST00000340612	ensembl	human	known	69_37n	nonsense	165	29.49	69	SNP	0.978	T
CD8B	926	genome.wustl.edu	37	2	87085413	87085414	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr2:87085413_87085414insA	ENST00000390655.6	-	2	227_228	c.169_170insT	c.(169-171)cagfs	p.Q57fs	CD8B_ENST00000393761.2_Frame_Shift_Ins_p.Q57fs|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000349455.3_Frame_Shift_Ins_p.Q57fs|CD8B_ENST00000331469.2_Frame_Shift_Ins_p.Q57fs|CD8B_ENST00000393759.2_Frame_Shift_Ins_p.Q57fs	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	57	Ig-like V-type.				immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TGCCTGGCGCTGTCTCAGCCAG	0.54																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.169_170insT	2.37:g.87085413_87085414insA	ENSP00000375070:p.Gln57fs		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Frame_Shift_Ins	INS	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.Q57fs	ENST00000390655.6	37	c.170_169	CCDS1997.1	2																																																																																			CD8B	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000172116		0.540	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD8B	HGNC	protein_coding	OTTHUMT00000330402.1	36	0.00	0	-	NM_172099		87085413	87085414	-1	no_errors	ENST00000331469	ensembl	human	known	69_37n	frame_shift_ins	41	38.81	26	INS	0.004:0.031	A
CDK18	5129	genome.wustl.edu	37	1	205494290	205494290	+	Silent	SNP	G	G	T			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr1:205494290G>T	ENST00000360066.2	+	5	724	c.423G>T	c.(421-423)ctG>ctT	p.L141L	CDK18_ENST00000506784.1_Silent_p.L171L|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.L141L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	139							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TTGGGAAACTGGAAACATACG	0.547																																					Pancreas(180;489 2072 28461 40831 44265)	dbGAP											0													141.0	123.0	129.0					1																	205494290		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.423G>T	1.37:g.205494290G>T			Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L171	ENST00000360066.2	37	c.513	CCDS44300.1	1																																																																																			CDK18	-	superfamily_Kinase-like_dom	ENSG00000117266		0.547	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK18	HGNC	protein_coding	OTTHUMT00000090407.2	27	0.00	0	G	NM_002596		205494290	205494290	+1	no_errors	ENST00000506784	ensembl	human	known	69_37n	silent	24	22.58	7	SNP	1.000	T
CHD6	84181	genome.wustl.edu	37	20	40161841	40161841	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr20:40161841C>A	ENST00000373233.3	-	3	579	c.402G>T	c.(400-402)aaG>aaT	p.K134N	CHD6_ENST00000373222.3_Missense_Mutation_p.K169N|CHD6_ENST00000309279.7_Missense_Mutation_p.K134N	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	134	Lys-rich.|Required for DNA-dependent ATPase activity.			K -> E (in Ref. 1; AAK56405). {ECO:0000305}.	ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCTTCGGCTCCTTGGCCTTTC	0.582																																						dbGAP											0													341.0	324.0	330.0					20																	40161841		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.402G>T	20.37:g.40161841C>A	ENSP00000362330:p.Lys134Asn		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.K134N	ENST00000373233.3	37	c.402	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658359	0.47467	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222;ENST00000440647	D;D;D	0.95307	-2.14;-3.67;-1.65	5.49	3.35	0.38373	.	0.190114	0.37261	N	0.002169	D	0.92635	0.7660	L	0.34521	1.04	0.37683	D	0.92355	D;D	0.67145	0.996;0.966	P;P	0.59948	0.866;0.462	D	0.89888	0.4035	10	0.07325	T	0.83	-18.6993	11.216	0.48827	0.0:0.8036:0.0:0.1964	.	169;134	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	N	134;134;169;134	ENSP00000362330:K134N;ENSP00000308684:K134N;ENSP00000362319:K169N	ENSP00000308684:K134N	K	-	3	2	CHD6	39595255	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	1.368000	0.34216	1.315000	0.45114	-0.142000	0.14014	AAG	CHD6	-	NULL	ENSG00000124177		0.582	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	244	0.00	0	C			40161841	40161841	-1	no_errors	ENST00000373233	ensembl	human	known	69_37n	missense	515	12.86	76	SNP	1.000	A
DIP2C	22982	genome.wustl.edu	37	10	327200	327200	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr10:327200C>T	ENST00000280886.6	-	36	4445	c.4358G>A	c.(4357-4359)cGg>cAg	p.R1453Q	RNA5SP298_ENST00000364991.1_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1453						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGGGTGGTACCGCATGCCCCG	0.552																																						dbGAP											0													163.0	129.0	141.0					10																	327200		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.4358G>A	10.37:g.327200C>T	ENSP00000280886:p.Arg1453Gln		B4DPI5|Q5SS78	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.R1453Q	ENST00000280886.6	37	c.4358	CCDS7054.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.871537	0.97049	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.14766	2.48	5.89	5.89	0.94794	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.27900	0.0687	L	0.50333	1.59	0.80722	D	1	D	0.59357	0.985	P	0.54026	0.74	T	0.00056	-1.2176	10	0.48119	T	0.1	-30.2152	20.2566	0.98424	0.0:1.0:0.0:0.0	.	1453	Q9Y2E4	DIP2C_HUMAN	Q	1453;378	ENSP00000280886:R1453Q	ENSP00000280886:R1453Q	R	-	2	0	DIP2C	317200	0.877000	0.30153	0.997000	0.53966	0.973000	0.67179	7.818000	0.86416	2.793000	0.96121	0.561000	0.74099	CGG	DIP2C	-	pfam_AMP-dep_Synth/Lig	ENSG00000151240		0.552	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2C	HGNC	protein_coding	OTTHUMT00000046389.1	51	0.00	0	C	NM_014974		327200	327200	-1	no_errors	ENST00000280886	ensembl	human	known	69_37n	missense	21	34.38	11	SNP	1.000	T
DSG4	147409	genome.wustl.edu	37	18	28979503	28979503	+	Missense_Mutation	SNP	T	T	A			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr18:28979503T>A	ENST00000308128.4	+	9	1409	c.1274T>A	c.(1273-1275)gTc>gAc	p.V425D	DSG4_ENST00000359747.4_Missense_Mutation_p.V425D|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	425	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCAACAGATGTCAGGTACTGC	0.388																																						dbGAP											0													104.0	106.0	105.0					18																	28979503		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1274T>A	18.37:g.28979503T>A	ENSP00000311859:p.Val425Asp		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin,pfscan_Cadherin	p.V425D	ENST00000308128.4	37	c.1274	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	T	13.88	2.369106	0.42003	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.64085	-0.08;-0.08	5.33	5.33	0.75918	Cadherin (4);Cadherin-like (1);	0.000000	0.31721	N	0.007175	D	0.82852	0.5127	H	0.94503	3.545	0.58432	D	0.999999	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.989	D	0.86492	0.1798	10	0.87932	D	0	.	10.036	0.42129	0.0:0.0758:0.0:0.9242	.	425;425	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	D	425	ENSP00000311859:V425D;ENSP00000352785:V425D	ENSP00000311859:V425D	V	+	2	0	DSG4	27233501	1.000000	0.71417	1.000000	0.80357	0.117000	0.20001	6.062000	0.71155	2.139000	0.66308	0.528000	0.53228	GTC	DSG4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000175065		0.388	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	115	0.00	0	T	NM_177986		28979503	28979503	+1	no_errors	ENST00000359747	ensembl	human	known	69_37n	missense	268	24.51	87	SNP	1.000	A
FAM3C	10447	genome.wustl.edu	37	7	121011389	121011389	+	Silent	SNP	G	G	A			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr7:121011389G>A	ENST00000359943.3	-	5	450	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	79					multicellular organismal development (GO:0007275)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	cytokine activity (GO:0005125)			kidney(1)|lung(8)	9	all_neural(327;0.117)					GTCCCACCACGTTGGCTGCTC	0.443																																						dbGAP											0													129.0	122.0	124.0					7																	121011389		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D87120	CCDS5782.1	7q22.1-q31.1	2014-08-14			ENSG00000196937	ENSG00000196937			18664	protein-coding gene	gene with protein product	"""predicted osteoblast protein"", ""interleukin-like EMT inducer"", ""interleukin-like epithelial-mesenchymal transition inducer"""	608618				12160727	Standard	NM_014888		Approved	GS3876, ILEI	uc010lkm.3	Q92520	OTTHUMG00000156979	ENST00000359943.3:c.237C>T	7.37:g.121011389G>A			A6NDN2|A8K3R7	Silent	SNP	NULL	p.N79	ENST00000359943.3	37	c.237	CCDS5782.1	7																																																																																			FAM3C	-	NULL	ENSG00000196937		0.443	FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3C	HGNC	protein_coding	OTTHUMT00000346945.1	125	0.00	0	G	NM_001040020		121011389	121011389	-1	no_errors	ENST00000359943	ensembl	human	known	69_37n	silent	155	24.39	50	SNP	1.000	A
FAM83C	128876	genome.wustl.edu	37	20	33875143	33875143	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr20:33875143C>T	ENST00000374408.3	-	4	1535	c.1439G>A	c.(1438-1440)cGg>cAg	p.R480Q	EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374436.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	480								p.R480Q(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCATCGACCCCGCAGGGGGCT	0.652																																						dbGAP											1	Substitution - Missense(1)	skin(1)																																								-	-	-	SO:0001583	missense	0			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1439G>A	20.37:g.33875143C>T	ENSP00000363529:p.Arg480Gln		Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	pfam_DUF1669	p.R480Q	ENST00000374408.3	37	c.1439	CCDS13251.1	20	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613167	0.28712	.	.	ENSG00000125998	ENST00000374408	T	0.09350	2.99	4.29	3.34	0.38264	.	0.680636	0.12094	N	0.500137	T	0.14227	0.0344	M	0.73598	2.24	0.09310	N	1	B	0.24533	0.105	B	0.10450	0.005	T	0.12243	-1.0555	10	0.51188	T	0.08	-7.5664	8.2969	0.31990	0.0:0.8899:0.0:0.1101	.	480	Q9BQN1	FA83C_HUMAN	Q	480	ENSP00000363529:R480Q	ENSP00000363529:R480Q	R	-	2	0	FAM83C	33338557	0.178000	0.23122	0.006000	0.13384	0.010000	0.07245	1.612000	0.36889	1.167000	0.42706	0.561000	0.74099	CGG	FAM83C	-	NULL	ENSG00000125998		0.652	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83C	HGNC	protein_coding	OTTHUMT00000078854.3	24	0.00	0	C			33875143	33875143	-1	no_errors	ENST00000374408	ensembl	human	known	69_37n	missense	29	29.27	12	SNP	0.003	T
GPR34	2857	genome.wustl.edu	37	X	41555293	41555293	+	Missense_Mutation	SNP	T	T	A			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chrX:41555293T>A	ENST00000378142.4	+	3	691	c.407T>A	c.(406-408)aTg>aAg	p.M136K	CASK_ENST00000378158.1_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.M136K|CASK_ENST00000378154.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000421587.2_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	136					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						CTGTTTTATATGAACATGTAC	0.368																																						dbGAP											0													177.0	158.0	164.0					X																	41555293		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.407T>A	X.37:g.41555293T>A	ENSP00000367384:p.Met136Lys		O95853	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.M136K	ENST00000378142.4	37	c.407	CCDS14258.1	X	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430785	0.62844	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.73258	-0.73;-0.73	5.96	5.96	0.96718	GPCR, rhodopsin-like superfamily (1);	0.043241	0.85682	D	0.000000	D	0.86456	0.5937	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89034	0.3444	10	0.87932	D	0	-24.7836	15.3733	0.74584	0.0:0.0:0.0:1.0	.	136	Q9UPC5	GPR34_HUMAN	K	136;136;89	ENSP00000367384:M136K;ENSP00000367378:M136K	ENSP00000367378:M136K	M	+	2	0	GPR34	41440237	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.162000	0.64942	2.014000	0.59158	0.481000	0.45027	ATG	GPR34	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	ENSG00000171659		0.368	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR34	HGNC	protein_coding	OTTHUMT00000056264.1	235	0.00	0	T	NM_005300		41555293	41555293	+1	no_errors	ENST00000378138	ensembl	human	known	69_37n	missense	142	33.33	71	SNP	1.000	A
HOXA2	3199	genome.wustl.edu	37	7	27140422	27140422	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr7:27140422C>T	ENST00000222718.5	-	2	1364	c.1054G>A	c.(1054-1056)Gta>Ata	p.V352I	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000434063.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	352					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GAAATATCTACGGGACTGTCG	0.448																																						dbGAP											0													86.0	86.0	86.0					7																	27140422		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.1054G>A	7.37:g.27140422C>T	ENSP00000222718:p.Val352Ile		A1L4K3|B2RMW3	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.V352I	ENST00000222718.5	37	c.1054	CCDS5403.1	7	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757783	0.49468	.	.	ENSG00000105996	ENST00000222718	T	0.10860	2.83	5.36	4.48	0.54585	.	0.127213	0.53938	D	0.000057	T	0.12008	0.0292	L	0.61218	1.895	0.46927	D	0.999256	P	0.39116	0.66	B	0.28916	0.096	T	0.03750	-1.1007	10	0.59425	D	0.04	.	13.9492	0.64106	0.0:0.9257:0.0:0.0743	.	352	O43364	HXA2_HUMAN	I	352	ENSP00000222718:V352I	ENSP00000222718:V352I	V	-	1	0	HOXA2	27106947	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	5.707000	0.68370	1.385000	0.46445	0.655000	0.94253	GTA	HOXA2	-	NULL	ENSG00000105996		0.448	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXA2	HGNC	protein_coding	OTTHUMT00000358508.2	135	0.00	0	C			27140422	27140422	-1	no_errors	ENST00000222718	ensembl	human	known	69_37n	missense	88	19.27	21	SNP	1.000	T
MUC16	94025	genome.wustl.edu	37	19	9070608	9070608	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr19:9070608G>A	ENST00000397910.4	-	3	17041	c.16838C>T	c.(16837-16839)aCc>aTc	p.T5613I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5615	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCTCCAGGGGTTCTGCTCCG	0.527																																						dbGAP											0													79.0	78.0	78.0					19																	9070608		1930	4117	6047	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16838C>T	19.37:g.9070608G>A	ENSP00000381008:p.Thr5613Ile		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T5613I	ENST00000397910.4	37	c.16838	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	0.924	-0.714967	0.03206	.	.	ENSG00000181143	ENST00000397910	T	0.21361	2.01	1.67	-3.34	0.04943	.	.	.	.	.	T	0.08133	0.0203	N	0.08118	0	.	.	.	B	0.09022	0.002	B	0.01281	0.0	T	0.25363	-1.0134	8	0.87932	D	0	.	0.983	0.01440	0.3242:0.1868:0.3357:0.1533	.	5613	B5ME49	.	I	5613	ENSP00000381008:T5613I	ENSP00000381008:T5613I	T	-	2	0	MUC16	8931608	.	.	0.000000	0.03702	0.139000	0.21198	.	.	-2.116000	0.00830	-0.703000	0.03666	ACC	MUC16	-	NULL	ENSG00000181143		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	177	0.00	0	G	NM_024690		9070608	9070608	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	455	21.28	123	SNP	0.000	A
LSM14A	26065	genome.wustl.edu	37	19	34699901	34699901	+	Silent	SNP	G	G	A			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr19:34699901G>A	ENST00000433627.5	+	4	558	c.483G>A	c.(481-483)gcG>gcA	p.A161A	LSM14A_ENST00000544216.3_Silent_p.A161A|LSM14A_ENST00000540746.2_Intron	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	161					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AAAGTAGTGCGGTTGGTTCTG	0.343																																						dbGAP											0													78.0	72.0	74.0					19																	34699901		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.483G>A	19.37:g.34699901G>A			B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Silent	SNP	pfam_FDF_dom,superfamily_LSM_dom	p.A161	ENST00000433627.5	37	c.483	CCDS46040.1	19																																																																																			LSM14A	-	NULL	ENSG00000257103		0.343	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LSM14A	HGNC	protein_coding	OTTHUMT00000451576.3	64	0.00	0	G	NM_015578		34699901	34699901	+1	no_errors	ENST00000433627	ensembl	human	known	69_37n	silent	91	27.78	35	SNP	0.996	A
MYO15A	51168	genome.wustl.edu	37	17	18044985	18044985	+	Silent	SNP	C	C	T			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr17:18044985C>T	ENST00000205890.5	+	23	5888	c.5550C>T	c.(5548-5550)gcC>gcT	p.A1850A	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1850	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTCTAGTGGCCCTCAAGCATG	0.577											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													88.0	92.0	91.0					17																	18044985		2064	4197	6261	-	-	-	SO:0001819	synonymous_variant	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5550C>T	17.37:g.18044985C>T		722	B4DFC7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.A1850	ENST00000205890.5	37	c.5550	CCDS42271.1	17																																																																																			MYO15A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000091536		0.577	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	33	0.00	0	C	NM_016239		18044985	18044985	+1	no_errors	ENST00000205890	ensembl	human	known	69_37n	silent	17	32.00	8	SNP	0.984	T
NBPF22P	285622	genome.wustl.edu	37	5	85578631	85578631	+	RNA	SNP	C	C	T			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr5:85578631C>T	ENST00000590707.1	+	0	354					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		CAGAGATGAACATCCTAGAAA	0.517																																						dbGAP											0																																										-	-	-			0			BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85578631C>T				RNA	SNP	-	NULL	ENST00000590707.1	37	NULL		5																																																																																			NBPF22P	-	-	ENSG00000205449		0.517	NBPF22P-004	KNOWN	basic	processed_transcript	NBPF22P	HGNC	pseudogene	OTTHUMT00000453100.1	147	0.00	0	C	XM_208333		85578631	85578631	+1	no_errors	ENST00000590707	ensembl	human	known	69_37n	rna	30	83.78	155	SNP	0.015	T
NT5C1B	93034	genome.wustl.edu	37	2	18745290	18745290	+	Silent	SNP	C	C	G			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr2:18745290C>G	ENST00000359846.2	-	10	1682	c.1605G>C	c.(1603-1605)ctG>ctC	p.L535L	NT5C1B_ENST00000600945.1_Silent_p.L535L|NT5C1B-RDH14_ENST00000532967.1_Silent_p.L535L|NT5C1B_ENST00000304081.4_Silent_p.L475L	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	535					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TAGCTGTAACCAGGTAGGTCC	0.507																																						dbGAP											0													79.0	81.0	80.0					2																	18745290		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.1605G>C	2.37:g.18745290C>G			B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	pfam_5-nucleotidase	p.G190R	ENST00000359846.2	37	c.568	CCDS33150.1	2	.	.	.	.	.	.	.	.	.	.	C	9.397	1.076999	0.20227	.	.	ENSG00000185013	ENST00000418427	.	.	.	6.16	0.422	0.16457	.	.	.	.	.	T	0.51618	0.1685	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41179	-0.9523	4	.	.	.	-18.5751	5.8078	0.18450	0.2923:0.4924:0.1482:0.067	.	.	.	.	R	190	.	.	G	-	1	0	NT5C1B	18608771	0.989000	0.36119	1.000000	0.80357	0.993000	0.82548	0.348000	0.20031	0.375000	0.24679	0.650000	0.86243	GGT	NT5C1B	-	pfam_5-nucleotidase	ENSG00000185013		0.507	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	HGNC	protein_coding	OTTHUMT00000323822.1	75	0.00	0	C			18745290	18745290	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000418427	ensembl	human	putative	69_37n	missense	69	29.59	29	SNP	1.000	G
OR10A4	283297	genome.wustl.edu	37	11	6898202	6898202	+	Missense_Mutation	SNP	T	T	G			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr11:6898202T>G	ENST00000379829.2	+	1	347	c.324T>G	c.(322-324)ttT>ttG	p.F108L		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	108					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTTCTTTTTTGGGGCTGCTG	0.522																																						dbGAP											0													86.0	83.0	84.0					11																	6898202		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.324T>G	11.37:g.6898202T>G	ENSP00000369157:p.Phe108Leu		B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.F108L	ENST00000379829.2	37	c.324	CCDS7774.1	11	.	.	.	.	.	.	.	.	.	.	t	9.316	1.056904	0.19907	.	.	ENSG00000170782	ENST00000379829	T	0.00631	6.09	4.79	0.982	0.19762	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000314	T	0.00637	0.0021	N	0.03917	-0.325	0.30728	N	0.74752	D	0.69078	0.997	D	0.69654	0.965	T	0.47005	-0.9150	10	0.05620	T	0.96	.	7.5685	0.27894	0.0:0.4059:0.0:0.5941	.	108	Q9H209	O10A4_HUMAN	L	108	ENSP00000369157:F108L	ENSP00000369157:F108L	F	+	3	2	OR10A4	6854778	0.004000	0.15560	0.998000	0.56505	0.435000	0.31806	-1.232000	0.02936	0.059000	0.16252	0.533000	0.62120	TTT	OR10A4	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000170782		0.522	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A4	HGNC	protein_coding	OTTHUMT00000385985.1	220	0.00	0	T	NM_207186		6898202	6898202	+1	no_errors	ENST00000379829	ensembl	human	known	69_37n	missense	283	44.29	225	SNP	0.950	G
POLQ	10721	genome.wustl.edu	37	3	121151152	121151152	+	Nonstop_Mutation	SNP	T	T	G			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr3:121151152T>G	ENST00000264233.5	-	30	7900	c.7772A>C	c.(7771-7773)tAa>tCa	p.*2591S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	0					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACAGCACAGTTACACATCAAA	0.443								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	dbGAP											0													128.0	116.0	120.0					3																	121151152		2203	4300	6503	-	-	-	SO:0001578	stop_lost	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7772A>C	3.37:g.121151152T>G			O95160|Q6VMB5	Nonstop_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.*2591S	ENST00000264233.5	37	c.7772	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	T	7.373	0.627224	0.14257	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	4.51	-6.93	0.01638	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4442	0.83910	0.0:0.6936:0.0:0.3064	.	.	.	.	S	2214;2591;2727	.	.	X	-	2	2	POLQ	122633842	0.001000	0.12720	0.000000	0.03702	0.260000	0.26232	-0.607000	0.05648	-1.338000	0.02233	-0.456000	0.05471	TAA	POLQ	-	NULL	ENSG00000051341		0.443	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	82	0.00	0	T	NM_199420		121151152	121151152	-1	no_errors	ENST00000264233	ensembl	human	known	69_37n	nonstop	79	47.33	71	SNP	0.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	rs397517201		TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	53	Substitution - Missense(53)	endometrium(18)|breast(17)|large_intestine(10)|central_nervous_system(3)|prostate(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)											61.0	61.0	61.0					3																	178936095		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1637A>G	3.37:g.178936095A>G	ENSP00000263967:p.Gln546Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Q546R	ENST00000263967.3	37	c.1637	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332178	0.81801	.	.	ENSG00000121879	ENST00000263967	T	0.63417	-0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.76782	-0.2832	10	0.52906	T	0.07	-14.2064	16.1026	0.81194	1.0:0.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	R	546	ENSP00000263967:Q546R	ENSP00000263967:Q546R	Q	+	2	0	PIK3CA	180418789	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	CAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	74	0.00	0	A			178936095	178936095	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	85	48.17	79	SNP	1.000	G
PPARGC1B	133522	genome.wustl.edu	37	5	149226989	149226989	+	Intron	SNP	C	C	T			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr5:149226989C>T	ENST00000309241.5	+	12	3003				PPARGC1B_ENST00000394320.3_3'UTR|PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000403750.1_Intron	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta						actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACTGCCTTCCCCTCTTCCCTG	0.552																																						dbGAP											0													100.0	100.0	100.0					5																	149226989		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2972-32C>T	5.37:g.149226989C>T			A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P722L	ENST00000309241.5	37	c.2165	CCDS4298.1	5	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022509	0.54683	.	.	ENSG00000155846	ENST00000434684	.	.	.	5.1	-0.377	0.12501	.	.	.	.	.	T	0.23846	0.0577	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27054	-1.0085	4	.	.	.	.	4.6368	0.12528	0.0:0.3295:0.2972:0.3733	.	.	.	.	L	722	.	.	P	+	2	0	PPARGC1B	149207182	0.902000	0.30710	0.000000	0.03702	0.126000	0.20510	1.555000	0.36277	-0.194000	0.10399	-0.438000	0.05819	CCC	PPARGC1B	-	NULL	ENSG00000155846		0.552	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPARGC1B	HGNC	protein_coding	OTTHUMT00000252334.1	101	0.00	0	C	NM_133263		149226989	149226989	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000434684	ensembl	human	putative	69_37n	missense	40	78.84	149	SNP	0.000	T
PRDM2	7799	genome.wustl.edu	37	1	14106177	14106177	+	Silent	SNP	G	G	A			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr1:14106177G>A	ENST00000235372.7	+	8	2743	c.1887G>A	c.(1885-1887)ttG>ttA	p.L629L	PRDM2_ENST00000343137.4_Silent_p.L428L|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Silent_p.L629L|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.L428L	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	629					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAGAGCCTTTGGGCAGCACAA	0.473																																						dbGAP											0													60.0	57.0	58.0					1																	14106177		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1887G>A	1.37:g.14106177G>A			B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.L629	ENST00000235372.7	37	c.1887	CCDS150.1	1																																																																																			PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot	ENSG00000116731		0.473	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	95	0.00	0	G	NM_012231		14106177	14106177	+1	no_errors	ENST00000235372	ensembl	human	known	69_37n	silent	115	54.72	139	SNP	0.006	A
PRKD2	25865	genome.wustl.edu	37	19	47193909	47193909	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr19:47193909C>T	ENST00000291281.4	-	13	1982	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	RN7SL364P_ENST00000473668.2_RNA|PRKD2_ENST00000601806.1_Missense_Mutation_p.R429H|PRKD2_ENST00000600194.1_Missense_Mutation_p.R429H|PRKD2_ENST00000595515.1_Missense_Mutation_p.R586H|PRKD2_ENST00000433867.1_Missense_Mutation_p.R586H			Q9BZL6	KPCD2_HUMAN	protein kinase D2	586	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGTAGGGAAGCGCAGTTTGTC	0.562																																						dbGAP											0													144.0	119.0	128.0					19																	47193909		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1757G>A	19.37:g.47193909C>T	ENSP00000291281:p.Arg586His		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_DAG/PE-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.R586H	ENST00000291281.4	37	c.1757	CCDS12689.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.362181	0.95877	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.65916	-0.18;-0.18	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.073065	0.56097	D	0.000039	T	0.73806	0.3634	L	0.45352	1.415	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.87578	0.921;0.998	T	0.76282	-0.3016	10	0.72032	D	0.01	-22.9846	17.5028	0.87736	0.0:1.0:0.0:0.0	.	586;586	E7ER94;Q9BZL6	.;KPCD2_HUMAN	H	586	ENSP00000291281:R586H;ENSP00000393978:R586H	ENSP00000291281:R586H	R	-	2	0	PRKD2	51885749	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.688000	0.84153	2.499000	0.84300	0.650000	0.86243	CGC	PRKD2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000105287		0.562	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	34	0.00	0	C	NM_016457		47193909	47193909	-1	no_errors	ENST00000291281	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	1.000	T
RCL1	10171	genome.wustl.edu	37	9	4841274	4841274	+	Silent	SNP	G	G	T			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr9:4841274G>T	ENST00000381750.4	+	6	850	c.627G>T	c.(625-627)gtG>gtT	p.V209V	RCL1_ENST00000381730.1_Silent_p.V23V|RCL1_ENST00000381728.1_Silent_p.V23V|RCL1_ENST00000448872.2_Silent_p.V23V	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	209					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		ACCGGATTGTGGATTCTGCAA	0.433																																						dbGAP											0													143.0	124.0	131.0					9																	4841274		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.627G>T	9.37:g.4841274G>T			D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Silent	SNP	pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'_term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,pirsf_RNA3'_term_phos_cyc,tigrfam_RNA3'_term_phos_cyc_type_2	p.V209	ENST00000381750.4	37	c.627	CCDS6456.1	9																																																																																			RCL1	-	pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'_term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,pirsf_RNA3'_term_phos_cyc,tigrfam_RNA3'_term_phos_cyc_type_2	ENSG00000120158		0.433	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCL1	HGNC	protein_coding	OTTHUMT00000051587.1	240	0.00	0	G	NM_005772		4841274	4841274	+1	no_errors	ENST00000381750	ensembl	human	known	69_37n	silent	94	67.81	198	SNP	1.000	T
SGOL1	151648	genome.wustl.edu	37	3	20212538	20212538	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr3:20212538G>A	ENST00000263753.4	-	7	1608	c.1469C>T	c.(1468-1470)gCt>gTt	p.A490V	SGOL1_ENST00000417364.1_Missense_Mutation_p.A238V|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000437051.1_Missense_Mutation_p.A238V|SGOL1_ENST00000421451.1_Missense_Mutation_p.A490V|SGOL1_ENST00000429446.3_Missense_Mutation_p.A221V|SGOL1_ENST00000452020.1_Missense_Mutation_p.A221V|SGOL1_ENST00000425061.1_Missense_Mutation_p.A238V|SGOL1_ENST00000412868.1_Missense_Mutation_p.A490V|SGOL1_ENST00000460637.1_5'UTR|SGOL1_ENST00000419233.2_Missense_Mutation_p.A238V|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000442720.1_Missense_Mutation_p.A221V|SGOL1_ENST00000412997.1_Missense_Mutation_p.A490V|SGOL1_ENST00000306698.2_Missense_Mutation_p.A221V	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	490					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TACTTACGAAGCGAGGGTGGG	0.418																																						dbGAP											0													45.0	44.0	44.0					3																	20212538		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1469C>T	3.37:g.20212538G>A	ENSP00000263753:p.Ala490Val		Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	pfam_Shugoshin_N,pfam_Shugoshin_C	p.A490V	ENST00000263753.4	37	c.1469	CCDS33716.1	3	.	.	.	.	.	.	.	.	.	.	G	7.177	0.588908	0.13812	.	.	ENSG00000129810	ENST00000306698;ENST00000419233;ENST00000263753;ENST00000425061;ENST00000421451;ENST00000452020;ENST00000442720;ENST00000412997;ENST00000437051;ENST00000412868;ENST00000429446;ENST00000417364	T;T;T;T;T;T;T;T	0.48836	0.8;1.34;0.8;1.34;1.37;0.84;1.37;0.84	5.76	2.02	0.26589	Shugoshin, C-terminal (1);	0.412913	0.30969	N	0.008501	T	0.35711	0.0941	L	0.53249	1.67	0.09310	N	1	B;B;B;B;B;B	0.13145	0.002;0.006;0.0;0.007;0.004;0.002	B;B;B;B;B;B	0.17098	0.012;0.007;0.001;0.009;0.017;0.006	T	0.26985	-1.0087	10	0.38643	T	0.18	.	2.6663	0.05053	0.2626:0.1131:0.5077:0.1165	.	490;221;238;238;490;221	B5BUA4;Q5FBB7-5;Q5FBB7-4;Q5FBB7-2;Q5FBB7;Q5FBB7-3	.;.;.;.;SGOL1_HUMAN;.	V	221;238;490;238;490;221;221;490;238;490;221;238	ENSP00000394625:A238V;ENSP00000263753:A490V;ENSP00000414960:A238V;ENSP00000414129:A490V;ENSP00000410458:A490V;ENSP00000389034:A238V;ENSP00000406880:A490V;ENSP00000394613:A238V	ENSP00000263753:A490V	A	-	2	0	SGOL1	20187542	0.004000	0.15560	0.139000	0.22197	0.071000	0.16799	0.018000	0.13422	0.088000	0.17205	-0.751000	0.03497	GCT	SGOL1	-	pfam_Shugoshin_C	ENSG00000129810		0.418	SGOL1-009	KNOWN	basic|CCDS	protein_coding	SGOL1	HGNC	protein_coding	OTTHUMT00000340498.1	82	0.00	0	G	NM_138484		20212538	20212538	-1	no_errors	ENST00000263753	ensembl	human	known	69_37n	missense	38	39.68	25	SNP	0.023	A
SDHAP1	255812	genome.wustl.edu	37	3	195711550	195711550	+	RNA	SNP	T	T	C	rs4927694		TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr3:195711550T>C	ENST00000427841.1	-	0	397					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CACGGTGTCATAGAAATGCCA	0.592																																					Ovarian(67;1158 1227 12109 20189 43170)	dbGAP											0																																										-	-	-			0			BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711550T>C				RNA	SNP	-	NULL	ENST00000427841.1	37	NULL		3																																																																																			SDHAP1	-	-	ENSG00000185485		0.592	SDHAP1-002	KNOWN	basic	processed_transcript	SDHAP1	HGNC	pseudogene	OTTHUMT00000341367.1	24	0.00	0	T			195711550	195711550	-1	no_errors	ENST00000427841	ensembl	human	known	69_37n	rna	38	22.45	11	SNP	1.000	C
MKL1	57591	genome.wustl.edu	37	22	40804998	40804998	+	IGR	SNP	G	G	A			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr22:40804998G>A	ENST00000355630.3	-	0	4496				SGSM3_ENST00000454798.2_Missense_Mutation_p.R588H|SGSM3_ENST00000248929.9_Missense_Mutation_p.R655H	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTGAAGCTCCGCTCACTGATC	0.612			T	RBM15	acute megakaryocytic leukemia																																	dbGAP		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													31.0	29.0	30.0					22																	40804998		2192	4292	6484	-	-	-	SO:0001628	intergenic_variant	0			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146		22.37:g.40804998G>A			Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_Rab-GTPase-TBC_dom,superfamily_SH3_domain,smart_Rab-GTPase-TBC_dom,smart_SH3_domain,smart_Run,pfscan_Run,pfscan_SH3_domain,pfscan_Rab-GTPase-TBC_dom	p.R655H	ENST00000355630.3	37	c.1964	CCDS14003.1	22	.	.	.	.	.	.	.	.	.	.	G	32	5.115755	0.94339	.	.	ENSG00000100359	ENST00000248929;ENST00000454798;ENST00000427834	T;T;T	0.35048	2.17;1.33;2.17	4.73	4.73	0.59995	RUN (3);	0.000000	0.85682	D	0.000000	T	0.64864	0.2637	M	0.84219	2.685	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.982;1.0;0.977;0.987	T	0.71803	-0.4482	10	0.87932	D	0	.	18.0654	0.89389	0.0:0.0:1.0:0.0	.	566;588;683;655	B4DVE3;B4DMS2;Q96HU1-2;Q96HU1	.;.;.;SGSM3_HUMAN	H	655;588;100	ENSP00000248929:R655H;ENSP00000390998:R588H;ENSP00000407286:R100H	ENSP00000248929:R655H	R	+	2	0	SGSM3	39134944	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.136000	0.77285	2.346000	0.79739	0.313000	0.20887	CGC	SGSM3	-	pfam_Run,smart_Run,pfscan_Run	ENSG00000100359		0.612	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM3	HGNC	protein_coding	OTTHUMT00000321522.1	13	0.00	0	G	NM_020831		40804998	40804998	+1	no_errors	ENST00000248929	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	1.000	A
SHISA4	149345	genome.wustl.edu	37	1	201858587	201858588	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr1:201858587_201858588insT	ENST00000362011.6	+	2	375_376	c.88_89insT	c.(88-90)gacfs	p.D30fs	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	30						integral component of membrane (GO:0016021)				kidney(1)|lung(4)	5						GGCCGGCGAGGACTGCCTGTGG	0.678																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY358589	CCDS1416.1	1q32.1	2013-07-31	2013-07-31	2008-04-01	ENSG00000198892	ENSG00000198892		"""Shisa homologs"""	27139	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 40"", ""transmembrane protein 58"", ""shisa homolog 4 (Xenopus laevis)"""	C1orf40, TMEM58		12975309	Standard	NR_030775		Approved	hShisa4	uc001gxa.3	Q96DD7	OTTHUMG00000035807	Exception_encountered	1.37:g.201858587_201858588insT	ENSP00000355064:p.Asp30fs		B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Frame_Shift_Ins	INS	NULL	p.D30fs	ENST00000362011.6	37	c.88_89	CCDS1416.1	1																																																																																			SHISA4	-	NULL	ENSG00000198892		0.678	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHISA4	HGNC	protein_coding	OTTHUMT00000087096.1	23	0.00	0	-	NM_198149		201858587	201858588	+1	no_errors	ENST00000362011	ensembl	human	known	69_37n	frame_shift_ins	16	64.44	29	INS	1.000:1.000	T
SIGLEC1	6614	genome.wustl.edu	37	20	3687076	3687077	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr20:3687076_3687077insC	ENST00000344754.4	-	2	325_326	c.326_327insG	c.(325-327)gacfs	p.D109fs	SIGLEC1_ENST00000202578.4_Frame_Shift_Ins_p.D109fs	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	109	Ig-like V-type.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGGAACCAGAGTCCTCGGGCTG	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.326_327insG	20.37:g.3687076_3687077insC	ENSP00000341141:p.Asp109fs		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D109fs	ENST00000344754.4	37	c.327_326	CCDS13060.1	20																																																																																			SIGLEC1	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000088827		0.609	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	10	0.00	0	-	NM_023068		3687076	3687077	-1	no_errors	ENST00000344754	ensembl	human	known	69_37n	frame_shift_ins	53	39.77	35	INS	0.724:0.890	C
SLCO5A1	81796	genome.wustl.edu	37	8	70744434	70744434	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr8:70744434delG	ENST00000260126.4	-	2	1181	c.475delC	c.(475-477)cgcfs	p.R159fs	SLCO5A1_ENST00000524945.1_Frame_Shift_Del_p.R159fs|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000501104.2_RNA|RP11-159H10.3_ENST00000533300.1_RNA|SLCO5A1_ENST00000530307.1_Frame_Shift_Del_p.R159fs	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGACTGTAGCGCCTTTCAATG	0.567											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													71.0	72.0	72.0					8																	70744434		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.475delC	8.37:g.70744434delG	ENSP00000260126:p.Arg159fs	1124	A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Frame_Shift_Del	DEL	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.R159fs	ENST00000260126.4	37	c.475	CCDS6205.1	8																																																																																			SLCO5A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000137571		0.567	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO5A1	HGNC	protein_coding	OTTHUMT00000381990.3	50	0.00	0	G	NM_030958		70744434	70744434	-1	no_errors	ENST00000260126	ensembl	human	known	69_37n	frame_shift_del	51	80.36	225	DEL	1.000	-
SLX4	84464	genome.wustl.edu	37	16	3632522	3632523	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr16:3632522_3632523insG	ENST00000294008.3	-	15	5965_5966	c.5325_5326insC	c.(5323-5328)ccctttfs	p.F1776fs	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1776	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CGCAGCTCAAAGGGCTGGTACA	0.649								Direct reversal of damage																														dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.5326dupC	16.37:g.3632525_3632525dupG	ENSP00000294008:p.Phe1776fs		Q69YT8|Q8TF15|Q96JP1	Frame_Shift_Ins	INS	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.F1775fs	ENST00000294008.3	37	c.5326_5325	CCDS10506.2	16																																																																																			SLX4	-	NULL	ENSG00000188827		0.649	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3	14	0.00	0	-	NM_032444		3632522	3632523	-1	no_errors	ENST00000294008	ensembl	human	known	69_37n	frame_shift_ins	17	29.17	7	INS	0.401:0.414	G
STX16	8675	genome.wustl.edu	37	20	57242358	57242358	+	Intron	SNP	G	G	C			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr20:57242358G>C	ENST00000371141.4	+	3	868				STX16-NPEPL1_ENST00000530122.1_Intron|STX16_ENST00000358029.4_Intron|STX16_ENST00000361830.3_Intron|STX16_ENST00000361770.5_Splice_Site|STX16_ENST00000371132.4_Intron|STX16_ENST00000359617.4_Intron|STX16_ENST00000496003.1_Intron|STX16_ENST00000355957.5_Intron	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16						intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GTTATCAAAAGCAAGTTTATA	0.348																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.145-188G>C	20.37:g.57242358G>C			A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Splice_Site	SNP	-	e2+1	ENST00000371141.4	37	c.93+1	CCDS13468.1	20	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765988	0.49574	.	.	ENSG00000124222	ENST00000361770	.	.	.	4.82	1.15	0.20763	.	.	.	.	.	.	.	.	.	.	.	0.19775	N	0.999951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1181	0.10092	0.2751:0.2081:0.5168:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STX16	56675764	0.078000	0.21339	0.014000	0.15608	0.983000	0.72400	1.176000	0.31957	0.412000	0.25729	0.591000	0.81541	.	STX16	-	-	ENSG00000124222		0.348	STX16-002	KNOWN	basic|CCDS	protein_coding	STX16	HGNC	protein_coding	OTTHUMT00000080517.2	13	0.00	0	G	NM_001001433		57242358	57242358	+1	no_errors	ENST00000361770	ensembl	human	known	69_37n	splice_site	5	68.75	11	SNP	0.006	C
SYNJ2	8871	genome.wustl.edu	37	6	158508008	158508009	+	Frame_Shift_Ins	INS	-	-	C	rs531633531	byFrequency	TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr6:158508008_158508009insC	ENST00000355585.4	+	23	3405_3406	c.3330_3331insC	c.(3331-3333)cccfs	p.P1111fs	SYNJ2_ENST00000367121.3_Frame_Shift_Ins_p.P1111fs|SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367112.1_Frame_Shift_Ins_p.P196fs	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1111	Pro-rich.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.P1113fs*5(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCCGCAGAGACCCCCCCCTCC	0.634													CCCCCCCC|CCCCCCCC|CCCCCCCCC|insertion	3	0.000599042	0.0	0.0	5008	,	,		14958	0.003		0.0	False		,,,				2504	0.0					dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3338dupC	6.37:g.158508016_158508016dupC	ENSP00000347792:p.Pro1111fs		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Frame_Shift_Ins	INS	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.P1113fs	ENST00000355585.4	37	c.3330_3331	CCDS5254.1	6																																																																																			SYNJ2	-	NULL	ENSG00000078269		0.634	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	16	0.00	0	-			158508008	158508009	+1	no_errors	ENST00000355585	ensembl	human	known	69_37n	frame_shift_ins	37	11.90	5	INS	1.000:1.000	C
TMCC2	9911	genome.wustl.edu	37	1	205238746	205238746	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr1:205238746G>C	ENST00000358024.3	+	3	1805	c.1416G>C	c.(1414-1416)aaG>aaC	p.K472N	TMCC2_ENST00000330675.7_Missense_Mutation_p.K247N|TMCC2_ENST00000329800.7_Missense_Mutation_p.K232N|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000545499.1_Missense_Mutation_p.K394N	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	472						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCAGCCCCAAGTATGGCAGCG	0.682																																						dbGAP											0													34.0	40.0	38.0					1																	205238746		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1416G>C	1.37:g.205238746G>C	ENSP00000350718:p.Lys472Asn		A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE	p.K472N	ENST00000358024.3	37	c.1416	CCDS30984.1	1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829047	0.50845	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000330675;ENST00000329800	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.82	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	M	0.85373	2.75	0.51482	D	0.999929	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.81914	0.982;0.957;0.975;0.995	T	0.63853	-0.6543	10	0.36615	T	0.2	-8.2187	6.0776	0.19923	0.2158:0.1399:0.6443:0.0	.	268;232;247;472	Q8IW47;G5E963;B2RAX5;O75069	.;.;.;TMCC2_HUMAN	N	472;394;247;232	ENSP00000350718:K472N;ENSP00000437943:K394N;ENSP00000331842:K247N;ENSP00000329436:K232N	ENSP00000329436:K232N	K	+	3	2	TMCC2	203505369	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	2.734000	0.47368	0.788000	0.33755	0.561000	0.74099	AAG	TMCC2	-	pfam_Predicted_TM_coiled-coil_2	ENSG00000133069		0.682	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMCC2	HGNC	protein_coding	OTTHUMT00000090383.1	22	0.00	0	G	NM_014858		205238746	205238746	+1	no_errors	ENST00000358024	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	1.000	C
TMEM219	124446	genome.wustl.edu	37	16	29979452	29979453	+	Missense_Mutation	DNP	CC	CC	AG	rs563167819		TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr16:29979452_29979453CC>AG	ENST00000566848.1	+	3	929_930	c.462_463CC>AG	c.(460-465)agCCag>agAGag	p.154_155SQ>RE	TMEM219_ENST00000414689.2_Missense_Mutation_p.154_155SQ>RE|TMEM219_ENST00000561899.2_Missense_Mutation_p.154_155SQ>RE|TMEM219_ENST00000279396.6_Missense_Mutation_p.154_155SQ>RE			Q86XT9	TM219_HUMAN	transmembrane protein 219	154					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(1)|prostate(2)	4						TACCCTCCAGCCAGCCACCCAT	0.545																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS42145.1	16p11.2	2008-08-08			ENSG00000149932	ENSG00000149932			25201	protein-coding gene	gene with protein product							Standard	NM_194280		Approved		uc010bzk.1	Q86XT9		Exception_encountered	16.37:g.29979452_29979453delinsAG	ENSP00000457492:p.S154_Q155delinsRE		D5FK14|Q8WVV8	Missense_Mutation	SNP	NULL	p.S154R|p.Q155E	ENST00000566848.1	37	c.462|c.463	CCDS42145.1	16																																																																																			TMEM219	-	NULL	ENSG00000149932		0.545	TMEM219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM219	HGNC	protein_coding	OTTHUMT00000435307.1	87|88	0.00	0	C	NM_001083613		29979452|29979453	29979452|29979453	+1	no_errors	ENST00000279396	ensembl	human	known	69_37n	missense	43|42	25.86|26.32	15	SNP	1.000	A|G
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_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		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	42	0.00	0	C	NM_000546		7578406	7578406	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	20	75.31	61	SNP	1.000	T
TRO	7216	genome.wustl.edu	37	X	54955461	54955461	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chrX:54955461delC	ENST00000173898.7	+	12	2416	c.2304delC	c.(2302-2304)agcfs	p.S768fs	TRO_ENST00000319167.8_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Frame_Shift_Del_p.S371fs|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Frame_Shift_Del_p.S299fs	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	768	62 X 10 AA approximate tandem repeats.			S -> G (in Ref. 1; BAA83066). {ECO:0000305}.	embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCAGTGCCAGCTTCAGCAATA	0.537																																						dbGAP											0													64.0	67.0	66.0					X																	54955461		2137	4231	6368	-	-	-	SO:0001589	frameshift_variant	0			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.2304delC	X.37:g.54955461delC	ENSP00000173898:p.Ser768fs		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Frame_Shift_Del	DEL	pfam_MAGE,pfscan_MAGE	p.F769fs	ENST00000173898.7	37	c.2304	CCDS43959.1	X																																																																																			TRO	-	NULL	ENSG00000067445		0.537	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	89	0.00	0	C	NM_016157		54955461	54955461	+1	no_errors	ENST00000173898	ensembl	human	known	69_37n	frame_shift_del	39	26.42	14	DEL	0.934	-
TTN	7273	genome.wustl.edu	37	2	179597266	179597266	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr2:179597266C>T	ENST00000591111.1	-	54	15795	c.15571G>A	c.(15571-15573)Gaa>Aaa	p.E5191K	TTN_ENST00000589042.1_Missense_Mutation_p.E5508K|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4264K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12558	Ig-like 32.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATAGAGTTCCAGGGAACTC	0.438																																						dbGAP											0													53.0	51.0	52.0					2																	179597266		1850	4091	5941	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15571G>A	2.37:g.179597266C>T	ENSP00000465570:p.Glu5191Lys		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E4264K	ENST00000591111.1	37	c.12790		2	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694455	0.30052	.	.	ENSG00000155657	ENST00000342992	T	0.67171	-0.25	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78033	0.4220	L	0.51914	1.62	0.80722	D	1	D	0.63046	0.992	P	0.61070	0.883	T	0.77547	-0.2547	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	5191	Q8WZ42	TITIN_HUMAN	K	4264	ENSP00000343764:E4264K	ENSP00000343764:E4264K	E	-	1	0	TTN	179305511	1.000000	0.71417	1.000000	0.80357	0.541000	0.35023	6.040000	0.70980	2.941000	0.99782	0.655000	0.94253	GAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	90	0.00	0	C	NM_133378		179597266	179597266	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	133	16.35	26	SNP	1.000	T
TUBE1	51175	genome.wustl.edu	37	6	112397208	112397208	+	Silent	SNP	T	T	C			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr6:112397208T>C	ENST00000368662.5	-	8	822	c.744A>G	c.(742-744)aaA>aaG	p.K248K	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	248					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	TATGCTGCTTTTTTAAAGCCC	0.393																																						dbGAP											0													141.0	152.0	148.0					6																	112397208		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"""Tubulins"""	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.744A>G	6.37:g.112397208T>C			Q5H8W8|Q8NEG3	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin	p.K248	ENST00000368662.5	37	c.744	CCDS5100.1	6																																																																																			TUBE1	-	superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase	ENSG00000074935		0.393	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBE1	HGNC	protein_coding	OTTHUMT00000041867.1	151	0.00	0	T	NM_016262		112397208	112397208	-1	no_errors	ENST00000368662	ensembl	human	known	69_37n	silent	121	27.54	46	SNP	0.023	C
ZBTB39	9880	genome.wustl.edu	37	12	57397309	57397309	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr12:57397309G>A	ENST00000300101.2	-	2	1478	c.1393C>T	c.(1393-1395)Cat>Tat	p.H465Y		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CGGACCACATGGAAATCTTTG	0.582																																						dbGAP											0													55.0	54.0	55.0					12																	57397309		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.1393C>T	12.37:g.57397309G>A	ENSP00000300101:p.His465Tyr		A7MD38|Q9UD98	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.H465Y	ENST00000300101.2	37	c.1393	CCDS31839.1	12	.	.	.	.	.	.	.	.	.	.	G	4.191	0.034048	0.08101	.	.	ENSG00000166860	ENST00000300101	T	0.09073	3.02	5.7	4.76	0.60689	Zinc finger, C2H2-like (1);	0.197827	0.44483	D	0.000448	T	0.10078	0.0247	L	0.45352	1.415	0.39281	D	0.964565	D	0.54601	0.967	B	0.44044	0.439	T	0.10894	-1.0610	10	0.35671	T	0.21	-13.5634	13.8838	0.63696	0.0:0.1538:0.8462:0.0	.	465	O15060	ZBT39_HUMAN	Y	465	ENSP00000300101:H465Y	ENSP00000300101:H465Y	H	-	1	0	ZBTB39	55683576	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.637000	0.83313	2.698000	0.92095	0.655000	0.94253	CAT	ZBTB39	-	smart_Znf_C2H2-like	ENSG00000166860		0.582	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB39	HGNC	protein_coding	OTTHUMT00000411214.1	63	0.00	0	G	NM_014830		57397309	57397309	-1	no_errors	ENST00000300101	ensembl	human	known	69_37n	missense	20	41.18	14	SNP	1.000	A
ZFP64	55734	genome.wustl.edu	37	20	50769369	50769369	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr20:50769369C>G	ENST00000216923.4	-	6	1711	c.1362G>C	c.(1360-1362)aaG>aaC	p.K454N	ZFP64_ENST00000371515.4_Missense_Mutation_p.K452N|ZFP64_ENST00000346617.4_Missense_Mutation_p.K400N|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGTCCGAGTTCTTACTCTCAC	0.597																																						dbGAP											0													74.0	54.0	60.0					20																	50769369		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.1362G>C	20.37:g.50769369C>G	ENSP00000216923:p.Lys454Asn		Q9NTS7|Q9NVH4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K454N	ENST00000216923.4	37	c.1362	CCDS13440.1	20	.	.	.	.	.	.	.	.	.	.	C	6.818	0.520011	0.13005	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.07908	3.15;3.19;3.15	5.48	4.53	0.55603	.	0.093533	0.46145	D	0.000318	T	0.05640	0.0148	L	0.27053	0.805	0.09310	N	1	B;B;B	0.33748	0.423;0.003;0.003	B;B;B	0.27380	0.079;0.002;0.002	T	0.31392	-0.9945	10	0.51188	T	0.08	-24.1413	8.5376	0.33373	0.1267:0.7409:0.0:0.1324	.	400;452;454	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	N	454;400;452;296;607	ENSP00000216923:K454N;ENSP00000344615:K400N;ENSP00000360570:K452N	ENSP00000216923:K454N	K	-	3	2	ZFP64	50202776	0.995000	0.38212	0.880000	0.34516	0.130000	0.20726	1.459000	0.35234	2.572000	0.86782	0.585000	0.79938	AAG	ZFP64	-	NULL	ENSG00000020256		0.597	ZFP64-003	KNOWN	basic|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079744.1	51	0.00	0	C	NM_018197		50769369	50769369	-1	no_errors	ENST00000216923	ensembl	human	known	69_37n	missense	74	39.34	48	SNP	0.043	G
ZNF326	284695	genome.wustl.edu	37	1	90470614	90470614	+	Intron	SNP	T	T	C			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr1:90470614T>C	ENST00000340281.4	+	3	240				ZNF326_ENST00000455342.2_5'UTR|ZNF326_ENST00000370447.3_Intron|ZNF326_ENST00000361911.5_Intron	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326						mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		CATTCAAGGATATTTATCTAA	0.348																																						dbGAP											0													152.0	152.0	152.0					1																	90470614		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.97+17T>C	1.37:g.90470614T>C			A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Silent	SNP	NULL	p.D38	ENST00000340281.4	37	c.114	CCDS727.1	1																																																																																			ZNF326	-	NULL	ENSG00000162664		0.348	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF326	HGNC	protein_coding	OTTHUMT00000029428.2	163	0.00	0	T	NM_181781		90470614	90470614	+1	no_errors	ENST00000394583	ensembl	human	known	69_37n	silent	154	29.03	63	SNP	1.000	C
ZSWIM2	151112	genome.wustl.edu	37	2	187693402	187693402	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A0CJ-01A-21W-A019-09	TCGA-A7-A0CJ-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c9f6a65e-ae20-410d-a397-34aef0818ff3	0d9abb69-24bb-473c-aec6-cfabee1d8ff5	g.chr2:187693402G>A	ENST00000295131.2	-	9	1250	c.1211C>T	c.(1210-1212)gCa>gTa	p.A404V		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	404					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGACTGATGTGCTTGTCCATT	0.348																																						dbGAP											0													77.0	76.0	76.0					2																	187693402		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.1211C>T	2.37:g.187693402G>A	ENSP00000295131:p.Ala404Val		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ	p.A404V	ENST00000295131.2	37	c.1211	CCDS33348.1	2	.	.	.	.	.	.	.	.	.	.	G	5.594	0.294375	0.10567	.	.	ENSG00000163012	ENST00000295131	T	0.23552	1.9	5.3	-7.22	0.01485	.	1.790990	0.02740	N	0.116201	T	0.14960	0.0361	L	0.31157	0.91	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16837	-1.0389	10	0.38643	T	0.18	6.7345	3.5457	0.07828	0.4688:0.2993:0.1311:0.1009	.	404	Q8NEG5	ZSWM2_HUMAN	V	404	ENSP00000295131:A404V	ENSP00000295131:A404V	A	-	2	0	ZSWIM2	187401647	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.755000	0.04782	-1.171000	0.02765	-0.293000	0.09583	GCA	ZSWIM2	-	NULL	ENSG00000163012		0.348	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM2	HGNC	protein_coding	OTTHUMT00000334565.1	58	0.00	0	G	NM_182521		187693402	187693402	-1	no_errors	ENST00000295131	ensembl	human	known	69_37n	missense	105	21.05	28	SNP	0.000	A
