#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADCYAP1R1	117	genome.wustl.edu	37	7	31117711	31117711	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr7:31117711delA	ENST00000304166.4	+	4	552	c.263delA	c.(262-264)caafs	p.Q88fs	ADCYAP1R1_ENST00000409363.1_Frame_Shift_Del_p.Q88fs|ADCYAP1R1_ENST00000396211.2_Frame_Shift_Del_p.Q88fs|ADCYAP1R1_ENST00000409489.1_Frame_Shift_Del_p.Q88fs	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	88					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						AACCCAGACCAAGGTGGGTTT	0.612																																					Ovarian(44;225 1186 2158 11092)	dbGAP											0													92.0	77.0	82.0					7																	31117711		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.263delA	7.37:g.31117711delA	ENSP00000306620:p.Gln88fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like	p.V89fs	ENST00000304166.4	37	c.263	CCDS5433.1	7																																																																																			ADCYAP1R1	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_PACAP_1_rcpt	ENSG00000078549		0.612	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	HGNC	protein_coding	OTTHUMT00000215041.3	28	0.00	0	A	NM_001118		31117711	31117711	+1	no_errors	ENST00000304166	ensembl	human	known	69_37n	frame_shift_del	34	17.07	7	DEL	1.000	-
ATHL1	80162	genome.wustl.edu	37	11	294635	294635	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr11:294635delG	ENST00000409548.2	+	14	2215	c.2100delG	c.(2098-2100)gagfs	p.E700fs	ATHL1_ENST00000409655.1_Frame_Shift_Del_p.E452fs|ATHL1_ENST00000409479.1_Frame_Shift_Del_p.E727fs	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	700					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCAGCTCCGAGTTCCCTGGGA	0.622																																						dbGAP											0													115.0	134.0	128.0					11																	294635		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.2100delG	11.37:g.294635delG	ENSP00000387185:p.Glu700fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658X8|Q8TEG9|Q9H635	Frame_Shift_Del	DEL	pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like	p.E700fs	ENST00000409548.2	37	c.2100	CCDS31322.2	11																																																																																			ATHL1	-	NULL	ENSG00000142102		0.622	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATHL1	HGNC	protein_coding	OTTHUMT00000330164.3	54	0.00	0	G	NM_025092		294635	294635	+1	no_errors	ENST00000409548	ensembl	human	known	69_37n	frame_shift_del	25	26.47	9	DEL	0.000	-
ALX4	60529	genome.wustl.edu	37	11	44289064	44289064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr11:44289064G>A	ENST00000329255.3	-	3	989	c.886C>T	c.(886-888)Cga>Tga	p.R296*		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	296					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						TTCTCAGCTCGGGTGAGGAGG	0.632																																						dbGAP											0													150.0	118.0	129.0					11																	44289064		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.886C>T	11.37:g.44289064G>A	ENSP00000332744:p.Arg296*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JN7|Q9H198|Q9HAY9	Nonsense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain	p.R296*	ENST00000329255.3	37	c.886	CCDS31468.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.384817	0.97524	.	.	ENSG00000052850	ENST00000329255	.	.	.	5.01	2.95	0.34219	.	0.141755	0.48286	D	0.000198	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0575	0.64779	0.0:0.0:0.6464:0.3536	.	.	.	.	X	296	.	ENSP00000332744:R296X	R	-	1	2	ALX4	44245640	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	4.402000	0.59722	1.434000	0.47414	0.561000	0.74099	CGA	ALX4	-	NULL	ENSG00000052850		0.632	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALX4	HGNC	protein_coding	OTTHUMT00000390399.1	66	0.00	0	G			44289064	44289064	-1	no_errors	ENST00000329255	ensembl	human	known	69_37n	nonsense	36	16.28	7	SNP	1.000	A
AGBL2	79841	genome.wustl.edu	37	11	47735870	47735870	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr11:47735870C>T	ENST00000525123.1	-	3	348	c.63G>A	c.(61-63)atG>atA	p.M21I	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.M21I|AGBL2_ENST00000298861.4_Missense_Mutation_p.M21I|AGBL2_ENST00000357610.3_Missense_Mutation_p.M21I	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	21						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GGTGACGGTACATAAAGTCTT	0.363																																						dbGAP											0													124.0	113.0	117.0					11																	47735870		2201	4298	6499	-	-	-	SO:0001583	missense	0				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.63G>A	11.37:g.47735870C>T	ENSP00000435582:p.Met21Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	pfam_Peptidase_M14	p.M21I	ENST00000525123.1	37	c.63	CCDS7944.1	11	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555716	0.45487	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244;ENST00000532595;ENST00000420784;ENST00000530577;ENST00000529154;ENST00000530969	T;T;T;T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84;1.84;1.84;1.84	4.76	3.83	0.44106	.	0.465011	0.23039	N	0.052631	T	0.20941	0.0504	L	0.45137	1.4	0.22754	N	0.998776	B;B;B	0.14438	0.01;0.006;0.006	B;B;B	0.15484	0.013;0.006;0.004	T	0.16958	-1.0385	10	0.19147	T	0.46	-19.1248	11.8255	0.52265	0.1368:0.7314:0.1319:0.0	.	21;21;21	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	I	21;21;21;21;21;21;1;21;21	ENSP00000435582:M21I;ENSP00000350228:M21I;ENSP00000298861:M21I;ENSP00000436630:M21I;ENSP00000436063:M21I;ENSP00000432264:M1I;ENSP00000436518:M21I;ENSP00000431835:M21I	ENSP00000298861:M21I	M	-	3	0	AGBL2	47692446	0.976000	0.34144	1.000000	0.80357	0.973000	0.67179	2.310000	0.43708	1.107000	0.41642	0.655000	0.94253	ATG	AGBL2	-	NULL	ENSG00000165923		0.363	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	AGBL2	HGNC	protein_coding	OTTHUMT00000383726.2	59	0.00	0	C	NM_024783		47735870	47735870	-1	no_errors	ENST00000357610	ensembl	human	known	69_37n	missense	8	72.41	21	SNP	0.997	T
ATP11C	286410	genome.wustl.edu	37	X	138825729	138825729	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chrX:138825729C>T	ENST00000327569.3	-	26	3126	c.3028G>A	c.(3028-3030)Gta>Ata	p.V1010I	ATP11C_ENST00000361648.2_Missense_Mutation_p.V1010I|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.V1010I|ATP11C_ENST00000359686.2_Missense_Mutation_p.V1010I|ATP11C_ENST00000370557.1_Missense_Mutation_p.V1004I	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	1010					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTCAGGGTTACAGTGAATACT	0.269																																						dbGAP											0													38.0	32.0	34.0					X																	138825729		2195	4272	6467	-	-	-	SO:0001583	missense	0			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.3028G>A	X.37:g.138825729C>T	ENSP00000332756:p.Val1010Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.V1010I	ENST00000327569.3	37	c.3028	CCDS14668.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.928967|4.928967	0.92389|0.92389	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000433868|ENST00000370557;ENST00000361648;ENST00000327569;ENST00000450801;ENST00000370543;ENST00000359686	.|T;T;T;T;T;T	.|0.51574	.|0.7;0.7;0.7;0.7;0.7;0.7	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62527|0.62527	0.2435|0.2435	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.61080	.|0.987;0.989;0.987	.|P;P;P	.|0.57152	.|0.814;0.78;0.814	T|T	0.65606|0.65606	-0.6127|-0.6127	5|10	.|0.66056	.|D	.|0.02	.|.	17.5113|17.5113	0.87761|0.87761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1010;1010;1010	.|Q8NB49-3;Q8NB49;Q8NB49-2	.|.;AT11C_HUMAN;.	Y|I	42|1004;1010;1010;74;1010;1010	.|ENSP00000359588:V1004I;ENSP00000355165:V1010I;ENSP00000332756:V1010I;ENSP00000391259:V74I;ENSP00000359574:V1010I;ENSP00000352715:V1010I	.|ENSP00000332756:V1010I	C|V	-|-	2|1	0|0	ATP11C|ATP11C	138653395|138653395	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.198000|7.198000	0.77823|0.77823	2.349000|2.349000	0.79799|0.79799	0.529000|0.529000	0.55759|0.55759	TGT|GTA	ATP11C	-	tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000101974		0.269	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	HGNC	protein_coding	OTTHUMT00000354945.1	65	0.00	0	C	NM_173694		138825729	138825729	-1	no_errors	ENST00000327569	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	1.000	T
BDH2	56898	genome.wustl.edu	37	4	104013865	104013865	+	Intron	SNP	A	A	T			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr4:104013865A>T	ENST00000296424.4	-	4	272					NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2						epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|heme metabolic process (GO:0042168)|iron ion homeostasis (GO:0055072)|siderophore biosynthetic process (GO:0019290)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		TGAAAAATAAAACAAGAGGCA	0.358																																						dbGAP											0													52.0	53.0	53.0					4																	104013865		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF164790	CCDS3663.1	4q24	2011-09-14			ENSG00000164039	ENSG00000164039	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	32389	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 15C, member 1"""		"""dehydrogenase/reductase (SDR family) member 6"""	DHRS6		16380372, 19027726	Standard	XM_005263140		Approved	UCPA-OR, FLJ13261, UNQ6308, PRO20933, SDR15C1	uc003hwz.3	Q9BUT1	OTTHUMG00000074039	ENST00000296424.4:c.152-12T>A	4.37:g.104013865A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K295|B4DUF6|Q503A0|Q6IA46|Q6UWD3|Q9H8S8|Q9NRX8	Silent	SNP	NULL	p.V54	ENST00000296424.4	37	c.162	CCDS3663.1	4																																																																																			BDH2	-	NULL	ENSG00000164039		0.358	BDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDH2	HGNC	protein_coding	OTTHUMT00000157159.2	51	0.00	0	A	NM_020139		104013865	104013865	-1	no_errors	ENST00000506521	ensembl	human	known	69_37n	silent	29	17.14	6	SNP	0.009	T
C19orf10	56005	genome.wustl.edu	37	19	4659991	4659991	+	Missense_Mutation	SNP	T	T	G			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr19:4659991T>G	ENST00000262947.3	-	5	429	c.394A>C	c.(394-396)Agt>Cgt	p.S132R	C19orf10_ENST00000599630.1_Missense_Mutation_p.S132R	NM_019107.3	NP_061980.1	Q969H8	CS010_HUMAN	chromosome 19 open reading frame 10	132					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		GGGACATCACTTTCCCTTTCA	0.463																																						dbGAP											0													199.0	177.0	184.0					19																	4659991		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282264	CCDS12133.1	19p13.3	2013-11-27	2003-06-25	2003-06-27	ENSG00000074842	ENSG00000074842			16948	protein-coding gene	gene with protein product		606746	"""interleukin 27 working designation"""	IL27, IL27w		17362502, 21128247	Standard	NM_019107		Approved	R33729_1, IL25, SF20, IL-25, IL-27	uc002may.3	Q969H8		ENST00000262947.3:c.394A>C	19.37:g.4659991T>G	ENSP00000262947:p.Ser132Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W628|O75256|O75272|Q9BTK7|Q9NP69	Missense_Mutation	SNP	pfam_UPF0556	p.S132R	ENST00000262947.3	37	c.394	CCDS12133.1	19	.	.	.	.	.	.	.	.	.	.	T	10.54	1.379849	0.24944	.	.	ENSG00000074842	ENST00000262947	T	0.47177	0.85	4.78	3.52	0.40303	.	0.367859	0.30118	N	0.010375	T	0.43678	0.1258	L	0.29908	0.895	0.09310	N	1	D	0.55172	0.97	P	0.54174	0.744	T	0.17167	-1.0378	10	0.35671	T	0.21	-13.2164	8.4124	0.32651	0.0:0.1097:0.0:0.8903	.	132	Q969H8	CS010_HUMAN	R	132	ENSP00000262947:S132R	ENSP00000262947:S132R	S	-	1	0	C19orf10	4610991	0.280000	0.24249	0.220000	0.23810	0.051000	0.14879	2.866000	0.48420	1.803000	0.52742	0.448000	0.29417	AGT	C19orf10	-	pfam_UPF0556	ENSG00000074842		0.463	C19orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf10	HGNC	protein_coding	OTTHUMT00000458937.1	86	0.00	0	T	NM_019107		4659991	4659991	-1	no_errors	ENST00000262947	ensembl	human	known	69_37n	missense	55	17.91	12	SNP	0.003	G
C5orf52	100190949	genome.wustl.edu	37	5	157106864	157106864	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr5:157106864A>G	ENST00000409999.3	+	3	399	c.337A>G	c.(337-339)Aag>Gag	p.K113E		NM_001145132.1	NP_001138604.1	A6NGY3	CE052_HUMAN	chromosome 5 open reading frame 52	113										endometrium(2)|lung(1)	3						CGCTTTAGAGAAGACCAAGAA	0.453																																						dbGAP											0													65.0	62.0	63.0					5																	157106864		692	1591	2283	-	-	-	SO:0001583	missense	0			BG721329	CCDS47329.1	5q33.3	2012-02-24			ENSG00000187658	ENSG00000187658			35121	protein-coding gene	gene with protein product							Standard	NM_001145132		Approved		uc011ddt.2	A6NGY3	OTTHUMG00000154518	ENST00000409999.3:c.337A>G	5.37:g.157106864A>G	ENSP00000387027:p.Lys113Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.K113E	ENST00000409999.3	37	c.337	CCDS47329.1	5	.	.	.	.	.	.	.	.	.	.	A	15.95	2.985016	0.53934	.	.	ENSG00000187658	ENST00000409999	T	0.31510	1.49	2.0	2.0	0.26442	.	.	.	.	.	T	0.30916	0.0780	L	0.29908	0.895	0.26158	N	0.980047	P	0.50156	0.932	P	0.53450	0.726	T	0.09250	-1.0683	9	0.62326	D	0.03	-5.4204	6.2576	0.20881	1.0:0.0:0.0:0.0	.	113	A6NGY3	CE052_HUMAN	E	113	ENSP00000387027:K113E	ENSP00000387027:K113E	K	+	1	0	C5orf52	157039442	0.823000	0.29233	0.640000	0.29408	0.266000	0.26442	0.374000	0.20501	0.858000	0.35431	0.260000	0.18958	AAG	C5orf52	-	NULL	ENSG00000187658		0.453	C5orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf52	HGNC	protein_coding	OTTHUMT00000335664.1	37	0.00	0	A	NM_001145132		157106864	157106864	+1	no_errors	ENST00000409999	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	0.946	G
CACNA1C	775	genome.wustl.edu	37	12	2675590	2675590	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr12:2675590G>A	ENST00000347598.4	+	12	1511	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	CACNA1C_ENST00000399606.1_Missense_Mutation_p.R504H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R504H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R504H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R504H|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R504H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R504H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R504H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R504H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R504H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R504H|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R504H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R504H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R504H|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R504H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R529H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R504H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R504H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R504H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R504H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R504H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R504H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R504H	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	504					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTTTCCAGCCGCTACTGGCGC	0.567																																						dbGAP											0													30.0	34.0	33.0					12																	2675590		1936	4128	6064	-	-	-	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1511G>A	12.37:g.2675590G>A	ENSP00000266376:p.Arg504His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R504H	ENST00000347598.4	37	c.1511	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.407327	0.96051	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36;-3.36	5.32	5.32	0.75619	.	0.158397	0.43260	D	0.000581	D	0.97399	0.9149	M	0.89601	3.045	0.80722	D	1	P;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.882;1.0;1.0;0.99;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.881;1.0;1.0;1.0;1.0;0.996;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	B;D;D;P;D;D;D;D;D;D;D;D;B;D;D;D;D;P;D;D;D;D;D;D;D;D	0.87578	0.222;0.997;0.996;0.585;0.993;0.998;0.996;0.998;0.996;0.988;0.998;0.993;0.445;0.998;0.991;0.996;0.993;0.674;0.997;0.983;0.993;0.998;0.998;0.993;0.989;0.993	D	0.97612	1.0130	10	0.62326	D	0.03	.	19.1782	0.93612	0.0:0.0:1.0:0.0	.	173;504;501;504;504;504;504;504;504;504;504;504;475;504;504;504;504;504;504;504;504;504;504;504;504;504	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	H	529;504;504;504;504;504;504;504;504;504;504;504;504;504;504;504;504;504;504;504;504;504;504;345	ENSP00000336982:R529H;ENSP00000382563:R504H;ENSP00000437936:R504H;ENSP00000382552:R504H;ENSP00000382547:R504H;ENSP00000382506:R504H;ENSP00000382530:R504H;ENSP00000382546:R504H;ENSP00000382500:R504H;ENSP00000382549:R504H;ENSP00000266376:R504H;ENSP00000382515:R504H;ENSP00000382510:R504H;ENSP00000341092:R504H;ENSP00000382537:R504H;ENSP00000329877:R504H;ENSP00000382557:R504H;ENSP00000385724:R504H;ENSP00000382512:R504H;ENSP00000382542:R504H;ENSP00000382526:R504H;ENSP00000385896:R504H;ENSP00000382504:R504H	ENSP00000323129:R345H	R	+	2	0	CACNA1C	2545851	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.593000	0.98250	2.769000	0.95229	0.563000	0.77884	CGC	CACNA1C	-	prints_VDCC_L_a1su	ENSG00000151067		0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	26	0.00	0	G	NM_000719		2675590	2675590	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	A
CCDC151	115948	genome.wustl.edu	37	19	11537373	11537373	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr19:11537373C>G	ENST00000356392.4	-	6	820	c.733G>C	c.(733-735)Gag>Cag	p.E245Q	CCDC151_ENST00000545100.1_Missense_Mutation_p.E191Q|CCDC151_ENST00000591179.1_Missense_Mutation_p.E185Q|CCDC151_ENST00000586836.1_Missense_Mutation_p.E54Q	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	245										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						AGCCGGTTCTCCAAGTTGAGG	0.622																																						dbGAP											0													45.0	49.0	47.0					19																	11537373		2073	4214	6287	-	-	-	SO:0001583	missense	0				CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.733G>C	19.37:g.11537373C>G	ENSP00000348757:p.Glu245Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXT0|Q96CG5	Missense_Mutation	SNP	NULL	p.E245Q	ENST00000356392.4	37	c.733	CCDS42501.1	19	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640612	0.29157	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	D;D	0.83163	-1.69;-1.69	4.87	3.76	0.43208	.	0.187710	0.46758	D	0.000268	T	0.72518	0.3470	L	0.41356	1.27	0.32570	N	0.529877	B;B;B	0.28419	0.211;0.211;0.211	B;B;B	0.26094	0.066;0.066;0.066	T	0.70513	-0.4851	10	0.14252	T	0.57	-15.055	10.9114	0.47110	0.0:0.673:0.327:0.0	.	245;245;225	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	Q	191;245;224	ENSP00000442987:E191Q;ENSP00000348757:E245Q	ENSP00000348757:E245Q	E	-	1	0	CCDC151	11398373	1.000000	0.71417	0.965000	0.40720	0.669000	0.39330	1.714000	0.37961	2.255000	0.74692	0.561000	0.74099	GAG	CCDC151	-	NULL	ENSG00000198003		0.622	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC151	HGNC	protein_coding	OTTHUMT00000458800.1	59	0.00	0	C	NM_145045		11537373	11537373	-1	no_errors	ENST00000356392	ensembl	human	known	69_37n	missense	28	17.65	6	SNP	1.000	G
CTSZ	1522	genome.wustl.edu	37	20	57570749	57570749	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr20:57570749G>C	ENST00000217131.5	-	6	985	c.867C>G	c.(865-867)aaC>aaG	p.N289K		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	289					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			CGATGGCAAGGTTGTATCTGG	0.557																																						dbGAP											0													207.0	152.0	171.0					20																	57570749		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF032906	CCDS13474.1	20q13.32	2012-02-10			ENSG00000101160	ENSG00000101160		"""Cathepsins"""	2547	protein-coding gene	gene with protein product	"""cathepsin X"", ""carboxypeptidase LB"", ""cathepsin IV"", ""cathepsin B2"", ""cathepsin Y"", ""cathepsin Z1"", ""cysteine-type carboxypeptidase"", ""lysosomal carboxypeptidase B"""	603169				9642240	Standard	NM_001336		Approved	CTSX	uc002yai.2	Q9UBR2	OTTHUMG00000032858	ENST00000217131.5:c.867C>G	20.37:g.57570749G>C	ENSP00000217131:p.Asn289Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC40|O75331|Q9UQV5|Q9UQV6	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.N289K	ENST00000217131.5	37	c.867	CCDS13474.1	20	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205598	0.58234	.	.	ENSG00000101160	ENST00000217131	T	0.42131	0.98	5.57	3.41	0.39046	Peptidase C1A, papain C-terminal (1);	0.051096	0.85682	N	0.000000	T	0.67608	0.2911	M	0.93594	3.435	0.58432	D	0.999994	D	0.89917	1.0	D	0.76575	0.988	T	0.71038	-0.4708	10	0.87932	D	0	.	6.3705	0.21479	0.371:0.0:0.629:0.0	.	289	Q9UBR2	CATZ_HUMAN	K	289	ENSP00000217131:N289K	ENSP00000217131:N289K	N	-	3	2	CTSZ	57004144	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	3.069000	0.50026	1.352000	0.45808	0.650000	0.86243	AAC	CTSZ	-	smart_Peptidase_C1A_C	ENSG00000101160		0.557	CTSZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSZ	HGNC	protein_coding	OTTHUMT00000079899.1	48	0.00	0	G	NM_001336		57570749	57570749	-1	no_errors	ENST00000217131	ensembl	human	known	69_37n	missense	44	18.52	10	SNP	1.000	C
CUL9	23113	genome.wustl.edu	37	6	43167709	43167709	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr6:43167709A>G	ENST00000252050.4	+	14	3283	c.3199A>G	c.(3199-3201)Atg>Gtg	p.M1067V	CUL9_ENST00000354495.3_Missense_Mutation_p.M957V|CUL9_ENST00000372647.2_Missense_Mutation_p.M1067V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1067					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCTGGCCTCGATGCATAAGGA	0.517																																						dbGAP											0													127.0	101.0	110.0					6																	43167709		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.3199A>G	6.37:g.43167709A>G	ENSP00000252050:p.Met1067Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.M1067V	ENST00000252050.4	37	c.3199	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	A	2.862	-0.235947	0.05944	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.35973	1.28;1.28;1.28	5.28	-0.545	0.11843	Armadillo-like helical (1);Armadillo-type fold (1);	1.297520	0.04485	N	0.378543	T	0.03871	0.0109	N	0.11427	0.14	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.17098	0.017;0.003;0.003	T	0.13926	-1.0491	10	0.02654	T	1	-2.0637	2.0438	0.03556	0.5211:0.1052:0.233:0.1408	.	957;1067;1067	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	V	1067;957;1067	ENSP00000252050:M1067V;ENSP00000346490:M957V;ENSP00000361730:M1067V	ENSP00000252050:M1067V	M	+	1	0	CUL9	43275687	0.000000	0.05858	0.006000	0.13384	0.902000	0.53008	0.487000	0.22356	0.015000	0.14971	0.533000	0.62120	ATG	CUL9	-	superfamily_ARM-type_fold	ENSG00000112659		0.517	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	51	0.00	0	A	NM_015089		43167709	43167709	+1	no_errors	ENST00000252050	ensembl	human	known	69_37n	missense	13	61.76	21	SNP	0.000	G
DDX11L1	100287102	genome.wustl.edu	37	1	13507	13507	+	RNA	SNP	G	G	A			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr1:13507G>A	ENST00000456328.2	+	0	755					NR_046018.2|NR_051986.1				DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1																		GCCTGGCGCTGTGCCCTTCCT	0.577																																						dbGAP											0																																										-	-	-			0			AM992871		1p36.33	2012-02-23	2012-02-23		ENSG00000223972	ENSG00000223972			37102	pseudogene	pseudogene			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 1"""			19476624	Standard	NR_046018		Approved		uc010nxq.1		OTTHUMG00000000961		1.37:g.13507G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000456328.2	37	NULL		1																																																																																			DDX11L1	-	-	ENSG00000223972		0.577	DDX11L1-002	KNOWN	basic	processed_transcript	DDX11L1	HGNC	pseudogene	OTTHUMT00000362751.1	27	0.00	0	G			13507	13507	+1	no_errors	ENST00000456328	ensembl	human	known	69_37n	rna	23	14.81	4	SNP	0.000	A
DENND1B	163486	genome.wustl.edu	37	1	197515103	197515103	+	IGR	SNP	G	G	A	rs370811608		TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr1:197515103G>A								CRB1 (67518 upstream) : DENND1B (6281 downstream)																							TTGCTGTGTTGAACAGTGCAC	0.303																																						dbGAP											0													50.0	54.0	52.0					1																	197515103		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0																															1.37:g.197515103G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom	p.S349L		37	c.1046		1																																																																																			DENND1B	-	NULL	ENSG00000213047	0	0.303					DENND1B	HGNC			56	0.00	0	G			197515103	197515103	-1	no_errors	ENST00000294737	ensembl	human	known	69_37n	missense	38	15.56	7	SNP	1.000	A
DERL1	79139	genome.wustl.edu	37	8	124042882	124042882	+	Silent	SNP	T	T	C			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr8:124042882T>C	ENST00000259512.4	-	2	528	c.228A>G	c.(226-228)ttA>ttG	p.L76L	DERL1_ENST00000405944.3_Silent_p.L76L|DERL1_ENST00000419562.2_Intron|RP11-557C18.3_ENST00000521258.1_RNA	NM_001134671.2|NM_024295.5	NP_001128143.1|NP_077271.1	Q9BUN8	DERL1_HUMAN	derlin 1	76					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|intracellular transport of viral protein in host cell (GO:0019060)|response to unfolded protein (GO:0006986)|retrograde protein transport, ER to cytosol (GO:0030970)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)	MHC class I protein binding (GO:0042288)|receptor activity (GO:0004872)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ATAAGAAATATAAATTGACCA	0.358																																						dbGAP											0													68.0	76.0	73.0					8																	124042882		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC002457	CCDS6337.1, CCDS47915.1	8q24.13	2012-02-01	2012-02-01		ENSG00000136986	ENSG00000136986			28454	protein-coding gene	gene with protein product		608813	"""Der1-like domain family, member 1"""			12975309, 15215855	Standard	NM_024295		Approved	MGC3067, PRO2577, FLJ13784, DER1, DER-1, derlin-1	uc003ypl.3	Q9BUN8	OTTHUMG00000165080	ENST00000259512.4:c.228A>G	8.37:g.124042882T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW41|E9PH19	Silent	SNP	pfam_DER1	p.L76	ENST00000259512.4	37	c.228	CCDS6337.1	8																																																																																			DERL1	-	pfam_DER1	ENSG00000136986		0.358	DERL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL1	HGNC	protein_coding	OTTHUMT00000381714.2	51	0.00	0	T	NM_024295		124042882	124042882	-1	no_errors	ENST00000259512	ensembl	human	known	69_37n	silent	14	60.00	21	SNP	0.995	C
DGKZ	8525	genome.wustl.edu	37	11	46398099	46398099	+	Silent	SNP	G	G	A			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr11:46398099G>A	ENST00000454345.1	+	25	2876	c.2751G>A	c.(2749-2751)agG>agA	p.R917R	DGKZ_ENST00000395574.3_Silent_p.R695R|DGKZ_ENST00000343674.6_Silent_p.R745R|DGKZ_ENST00000456247.2_Silent_p.R728R|DGKZ_ENST00000527911.1_Silent_p.R729R|DGKZ_ENST00000528615.1_Silent_p.R507R|DGKZ_ENST00000318201.8_Silent_p.R706R|DGKZ_ENST00000532868.2_Silent_p.R733R|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000421244.2_Silent_p.R729R|DGKZ_ENST00000543978.1_Silent_p.R81R	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	917					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCTTCTACAGGATCGACCGAG	0.667																																						dbGAP											0													64.0	66.0	66.0					11																	46398099		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2751G>A	11.37:g.46398099G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R917	ENST00000454345.1	37	c.2751	CCDS41640.1	11																																																																																			DGKZ	-	NULL	ENSG00000149091		0.667	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	HGNC	protein_coding	OTTHUMT00000389772.1	43	0.00	0	G	NM_001105540		46398099	46398099	+1	no_errors	ENST00000454345	ensembl	human	known	69_37n	silent	15	40.00	10	SNP	1.000	A
DHCR24	1718	genome.wustl.edu	37	1	55349418	55349418	+	Missense_Mutation	SNP	T	T	G			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr1:55349418T>G	ENST00000371269.3	-	2	358	c.260A>C	c.(259-261)aAg>aCg	p.K87T	DHCR24_ENST00000535035.1_Missense_Mutation_p.K46T	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	87	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CATGAAGGTCTTGCTACCCTG	0.572																																					Pancreas(39;516 1021 24601 30715 32780)	dbGAP											0													161.0	137.0	145.0					1																	55349418		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.260A>C	1.37:g.55349418T>G	ENSP00000360316:p.Lys87Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2	p.K87T	ENST00000371269.3	37	c.260	CCDS600.1	1	.	.	.	.	.	.	.	.	.	.	T	17.50	3.405803	0.62288	.	.	ENSG00000116133	ENST00000539536;ENST00000371269;ENST00000535035	D;D	0.93133	-2.03;-3.17	5.25	4.06	0.47325	FAD-binding, type 2 (2);	0.156254	0.56097	D	0.000027	D	0.93291	0.7862	M	0.80982	2.52	0.80722	D	1	P;P	0.45634	0.611;0.863	B;P	0.49301	0.157;0.606	D	0.90503	0.4475	10	0.19590	T	0.45	-20.6671	7.876	0.29595	0.0:0.074:0.1381:0.7879	.	46;87	B7Z817;Q15392	.;DHC24_HUMAN	T	87;87;46	ENSP00000360316:K87T;ENSP00000440191:K46T	ENSP00000360316:K87T	K	-	2	0	DHCR24	55122006	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.402000	0.52608	1.997000	0.58415	0.533000	0.62120	AAG	DHCR24	-	superfamily_FAD-bd_2	ENSG00000116133		0.572	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR24	HGNC	protein_coding	OTTHUMT00000027680.1	47	0.00	0	T	NM_014762		55349418	55349418	-1	no_errors	ENST00000371269	ensembl	human	known	69_37n	missense	20	39.39	13	SNP	1.000	G
DTNB	1838	genome.wustl.edu	37	2	25861883	25861883	+	Splice_Site	SNP	G	G	A			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr2:25861883G>A	ENST00000406818.3	-	3	397	c.148C>T	c.(148-150)Ctt>Ttt	p.L50F	DTNB_ENST00000288642.8_Splice_Site_p.L50F|DTNB_ENST00000407661.3_Splice_Site_p.L50F|DTNB_ENST00000496972.2_5'UTR|DTNB_ENST00000405222.1_Splice_Site_p.L50F|DTNB_ENST00000404103.3_Splice_Site_p.L50F|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000407186.1_Splice_Site_p.L50F|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000407038.3_Splice_Site_p.L50F	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	50						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGACTCACGGTTGCATCGT	0.328																																						dbGAP											0													88.0	85.0	86.0					2																	25861883		1845	4092	5937	-	-	-	SO:0001630	splice_region_variant	0			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.148+1C>T	2.37:g.25861883G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Nonsense_Mutation	SNP	pfam_EF-hand_dom_typ1	p.Q50*	ENST00000406818.3	37	c.148	CCDS46237.1	2	.	.	.	.	.	.	.	.	.	.	G	38	6.682153	0.97759	.	.	ENSG00000138101	ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000303659;ENST00000349996	T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17;-0.17	5.96	4.15	0.48705	EF-hand domain, type 1 (1);	0.065702	0.53938	D	0.000057	T	0.70701	0.3254	L	0.59436	1.845	0.80722	D	1	D;D;P;D;P;D;P;P	0.65815	0.987;0.965;0.804;0.992;0.851;0.995;0.956;0.939	P;P;B;D;B;D;P;P	0.64410	0.802;0.74;0.432;0.919;0.388;0.925;0.622;0.603	T	0.68435	-0.5409	9	.	.	.	-15.4329	10.3977	0.44211	0.1364:0.0:0.8636:0.0	.	50;50;50;50;50;50;50;50	O60941-3;B7Z6A9;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;DTNB_HUMAN	F	50	ENSP00000384084:L50F;ENSP00000385482:L50F;ENSP00000385193:L50F;ENSP00000384767:L50F;ENSP00000384787:L50F;ENSP00000385784:L50F;ENSP00000288642:L50F;ENSP00000306529:L50F;ENSP00000340957:L50F	.	L	-	1	0	DTNB	25715387	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.394000	0.44450	2.832000	0.97577	0.655000	0.94253	CTT	DTNB	-	NULL	ENSG00000138101		0.328	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTNB	HGNC	protein_coding	OTTHUMT00000325361.1	83	0.00	0	G	NM_033147	Missense_Mutation	25861883	25861883	-1	no_errors	ENST00000356599	ensembl	human	known	69_37n	nonsense	42	19.23	10	SNP	1.000	A
FAM21A	387680	genome.wustl.edu	37	10	51853633	51853633	+	Missense_Mutation	SNP	C	C	T	rs199520696	byFrequency	TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr10:51853633C>T	ENST00000282633.5	+	13	1181	c.1136C>T	c.(1135-1137)aCg>aTg	p.T379M	FAM21A_ENST00000351071.6_Missense_Mutation_p.T379M|FAM21A_ENST00000314664.7_Missense_Mutation_p.T379M|FAM21A_ENST00000399339.2_Missense_Mutation_p.T291M	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	379					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						GACCTCTTCACGGAAGCCCCC	0.488																																						dbGAP											0													1.0	1.0	1.0					10																	51853633		353	936	1289	-	-	-	SO:0001583	missense	0			BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"""family with sequence similarity 21, member B"""	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.1136C>T	10.37:g.51853633C>T	ENSP00000282633:p.Thr379Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	NULL	p.T379M	ENST00000282633.5	37	c.1136	CCDS41527.1	10	.	.	.	.	.	.	.	.	.	.	C	6.414	0.444490	0.12164	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000434114;ENST00000282633;ENST00000399339	.	.	.	3.88	-5.37	0.02681	.	0.781535	0.12699	N	0.446536	T	0.14527	0.0351	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.29253	0.05;0.02;0.005;0.02;0.239	B;B;B;B;B	0.16722	0.013;0.013;0.003;0.013;0.016	T	0.05767	-1.0865	9	0.42905	T	0.14	2.3495	2.2948	0.04147	0.3714:0.2592:0.2739:0.0955	.	379;379;291;379;273	E7ESD2;Q641Q2-2;F8W7U3;Q641Q2;Q5T1D7	.;.;.;FA21A_HUMAN;.	M	379;379;273;379;291	.	ENSP00000282633:T379M	T	+	2	0	FAM21A	51523639	0.024000	0.19004	0.096000	0.21009	0.033000	0.12548	-0.884000	0.04166	-1.796000	0.01253	-1.109000	0.02080	ACG	FAM21A	-	NULL	ENSG00000099290		0.488	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM21A	HGNC	protein_coding	OTTHUMT00000276917.2	13	0.00	0	C	NM_001005751		51853633	51853633	+1	no_errors	ENST00000282633	ensembl	human	known	69_37n	missense	3	57.14	4	SNP	0.370	T
FBN3	84467	genome.wustl.edu	37	19	8152732	8152732	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr19:8152732C>T	ENST00000600128.1	-	53	7010	c.6596G>A	c.(6595-6597)cGg>cAg	p.R2199Q	FBN3_ENST00000601739.1_Missense_Mutation_p.R2199Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R2199Q			Q75N90	FBN3_HUMAN	fibrillin 3	2199	EGF-like 35; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCATCCTCCCGCAGGGTGTA	0.562																																						dbGAP											0													109.0	110.0	110.0					19																	8152732		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6596G>A	19.37:g.8152732C>T	ENSP00000470498:p.Arg2199Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.R2199Q	ENST00000600128.1	37	c.6596	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240708	0.79912	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.91686	-2.89	4.52	2.35	0.29111	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	U	0.000002	D	0.87513	0.6196	N	0.02916	-0.46	0.51012	D	0.999903	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	D	0.83720	0.0192	10	0.29301	T	0.29	.	9.0043	0.36102	0.1481:0.7734:0.0:0.0785	.	2199;305	Q75N90;Q6ZNB8	FBN3_HUMAN;.	Q	2199;305	ENSP00000270509:R2199Q	ENSP00000270509:R2199Q	R	-	2	0	FBN3	8058732	0.942000	0.31987	0.331000	0.25455	0.749000	0.42624	3.691000	0.54720	0.451000	0.26802	0.313000	0.20887	CGG	FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom	ENSG00000142449		0.562	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	55	0.00	0	C	NM_032447		8152732	8152732	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	missense	23	39.47	15	SNP	1.000	T
FCGBP	8857	genome.wustl.edu	37	19	40366247	40366247	+	Missense_Mutation	SNP	C	C	G	rs62106923		TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr19:40366247C>G	ENST00000221347.6	-	30	13994	c.13987G>C	c.(13987-13989)Ggc>Cgc	p.G4663R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4663	VWFD 11. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCCGGGCCGCCGAAGGACTCC	0.726																																						dbGAP											0													26.0	36.0	33.0					19																	40366247		2202	4295	6497	-	-	-	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13987G>C	19.37:g.40366247C>G	ENSP00000221347:p.Gly4663Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.G4663R	ENST00000221347.6	37	c.13987	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	0.754	-0.771594	0.02951	.	.	ENSG00000090920	ENST00000221347	T	0.18016	2.24	4.32	0.87	0.19102	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (1);	0.814246	0.10911	U	0.620604	T	0.07683	0.0193	N	0.05124	-0.11	0.09310	N	1	B	0.33694	0.421	B	0.38880	0.284	T	0.39881	-0.9592	10	0.15952	T	0.53	.	3.9295	0.09278	0.0:0.4517:0.1752:0.3731	.	4663	Q9Y6R7	FCGBP_HUMAN	R	4663	ENSP00000221347:G4663R	ENSP00000221347:G4663R	G	-	1	0	FCGBP	45058087	0.000000	0.05858	0.002000	0.10522	0.117000	0.20001	0.035000	0.13797	0.174000	0.19809	0.305000	0.20034	GGC	FCGBP	-	smart_Unchr_dom_Cys-rich	ENSG00000090920		0.726	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	14	0.00	0	C	NM_003890		40366247	40366247	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	0.017	G
FMN2	56776	genome.wustl.edu	37	1	240371034	240371034	+	Silent	SNP	A	A	C	rs150102515		TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr1:240371034A>C	ENST00000319653.9	+	5	3152	c.2922A>C	c.(2920-2922)ggA>ggC	p.G974G		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	974	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCGGAGCAGGAATACCTCCTC	0.706																																						dbGAP											0													22.0	23.0	23.0					1																	240371034		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2922A>C	1.37:g.240371034A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.G974	ENST00000319653.9	37	c.2922	CCDS31069.2	1																																																																																			FMN2	-	pfam_Formin_homology_1,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000155816		0.706	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	19	0.00	0	A	XM_371352		240371034	240371034	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	silent	20	28.57	8	SNP	0.000	C
GALNT11	63917	genome.wustl.edu	37	7	151810418	151810418	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr7:151810418G>A	ENST00000434507.1	+	10	1605	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	GALNT11_ENST00000452146.2_Missense_Mutation_p.E309K|GALNT11_ENST00000320311.2_Missense_Mutation_p.E390K|GALNT11_ENST00000430044.2_Missense_Mutation_p.E390K			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	390					cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E390K(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TGGATCTCCCGAAGGCCAGGA	0.473																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											166.0	155.0	159.0					7																	151810418		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.1168G>A	7.37:g.151810418G>A	ENSP00000416787:p.Glu390Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E390K	ENST00000434507.1	37	c.1168	CCDS5930.1	7	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179299	0.78564	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000320311	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.59	4.71	0.59529	.	0.059645	0.64402	D	0.000002	T	0.28134	0.0694	N	0.11364	0.135	0.80722	D	1	B;P;B	0.38129	0.327;0.619;0.327	B;B;B	0.25140	0.048;0.058;0.048	T	0.09100	-1.0690	10	0.20519	T	0.43	.	14.4401	0.67309	0.0705:0.0:0.9295:0.0	.	309;390;390	B7Z5G5;B3KWF4;Q8NCW6	.;.;GLT11_HUMAN	K	390;309;390;390;390	ENSP00000395122:E390K;ENSP00000393399:E309K;ENSP00000416787:E390K;ENSP00000315835:E390K	ENSP00000315835:E390K	E	+	1	0	GALNT11	151441351	1.000000	0.71417	0.962000	0.40283	0.963000	0.63663	7.926000	0.87569	1.360000	0.45960	0.561000	0.74099	GAA	GALNT11	-	NULL	ENSG00000178234		0.473	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT11	HGNC	protein_coding	OTTHUMT00000348184.1	60	0.00	0	G	NM_022087		151810418	151810418	+1	no_errors	ENST00000320311	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	1.000	A
GXYLT1	283464	genome.wustl.edu	37	12	42491739	42491739	+	Missense_Mutation	SNP	A	A	C			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr12:42491739A>C	ENST00000398675.3	-	6	1193	c.961T>G	c.(961-963)Ttg>Gtg	p.L321V	GXYLT1_ENST00000280876.6_Missense_Mutation_p.L290V	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	321					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						ACGATATTCAATAGATCTTGA	0.294																																						dbGAP											0													139.0	125.0	129.0					12																	42491739		1829	4078	5907	-	-	-	SO:0001583	missense	0			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"""Glycosyltransferase family 8 domain containing"""	27482	protein-coding gene	gene with protein product		613321	"""glycosyltransferase 8 domain containing 3"""	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.961T>G	12.37:g.42491739A>C	ENSP00000381666:p.Leu321Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWJ2|Q8IXV1|Q96BH4	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.L321V	ENST00000398675.3	37	c.961	CCDS41772.1	12	.	.	.	.	.	.	.	.	.	.	A	12.29	1.892472	0.33442	.	.	ENSG00000151233	ENST00000398675;ENST00000280876	T;T	0.44482	0.92;0.92	5.83	0.814	0.18756	.	0.063203	0.64402	D	0.000008	T	0.56108	0.1963	M	0.77820	2.39	0.41161	D	0.986091	P;P	0.49696	0.911;0.927	P;P	0.58620	0.646;0.842	T	0.57376	-0.7822	10	0.56958	D	0.05	-9.1493	9.994	0.41887	0.5837:0.0:0.4163:0.0	.	290;321	Q4G148-2;Q4G148	.;GXLT1_HUMAN	V	321;290	ENSP00000381666:L321V;ENSP00000280876:L290V	ENSP00000280876:L290V	L	-	1	2	GXYLT1	40778006	0.194000	0.23325	0.524000	0.27887	0.054000	0.15201	0.640000	0.24705	0.110000	0.17919	0.533000	0.62120	TTG	GXYLT1	-	pfam_Glyco_trans_8	ENSG00000151233		0.294	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GXYLT1	HGNC	protein_coding	OTTHUMT00000403778.1	86	0.00	0	A	XM_290597		42491739	42491739	-1	no_errors	ENST00000398675	ensembl	human	known	69_37n	missense	46	30.30	20	SNP	0.356	C
ZSWIM8	23053	genome.wustl.edu	37	10	75557625	75557625	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr10:75557625C>T	ENST00000605216.1	+	19	3951	c.3734C>T	c.(3733-3735)gCg>gTg	p.A1245V	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.A1212V|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.A1250V|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.A1250V|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.A1245V|ZSWIM8-AS1_ENST00000456638.2_RNA	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1245							zinc ion binding (GO:0008270)										TTCGAGCTGGCGAAGACAGTG	0.592																																						dbGAP											0													76.0	83.0	81.0					10																	75557625		2093	4216	6309	-	-	-	SO:0001583	missense	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3734C>T	10.37:g.75557625C>T	ENSP00000474748:p.Ala1245Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Nonsense_Mutation	SNP	NULL	p.R520*	ENST00000605216.1	37	c.1558		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.256570|4.256570	0.80246|0.80246	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000412198	T|.	0.63580|.	-0.05|.	5.74|5.74	4.83|4.83	0.62350|0.62350	.|.	0.000000|.	0.64402|.	U|.	0.000005|.	T|.	0.77018|.	0.4069|.	M|M	0.81497|0.81497	2.545|2.545	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D;D|.	0.76494|.	0.994;0.999;0.994;0.994|.	P;D;P;P|.	0.78314|.	0.65;0.991;0.737;0.65|.	T|.	0.79024|.	-0.1972|.	10|.	0.87932|.	D|.	0|.	-6.4233|-6.4233	16.1693|16.1693	0.81790|0.81790	0.1345:0.8655:0.0:0.0|0.1345:0.8655:0.0:0.0	.|.	1245;1257;1245;1250|.	A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.;.|.	V|X	1250|520	ENSP00000381693:A1250V|.	ENSP00000381693:A1250V|.	A|R	+|+	2|1	0|2	KIAA0913|KIAA0913	75227631|75227631	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.404000|7.404000	0.79996|0.79996	1.426000|1.426000	0.47256|0.47256	0.655000|0.655000	0.94253|0.94253	GCG|CGA	KIAA0913	-	NULL	ENSG00000214655		0.592	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	KIAA0913	HGNC	protein_coding	OTTHUMT00000468545.1	32	0.00	0	C	NM_001242487		75557625	75557625	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000412198	ensembl	human	known	69_37n	nonsense	84	13.40	13	SNP	1.000	T
KPTN	11133	genome.wustl.edu	37	19	47983600	47983600	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr19:47983600G>C	ENST00000338134.3	-	7	771	c.664C>G	c.(664-666)Cag>Gag	p.Q222E	KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'Flank	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	222					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		TAACCACTCTGACAGCCCAGA	0.697																																						dbGAP											0													12.0	17.0	15.0					19																	47983600		1781	3665	5446	-	-	-	SO:0001583	missense	0			AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.664C>G	19.37:g.47983600G>C	ENSP00000337850:p.Gln222Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	NULL	p.Q222E	ENST00000338134.3	37	c.664	CCDS42583.1	19	.	.	.	.	.	.	.	.	.	.	G	13.70	2.314289	0.40996	.	.	ENSG00000118162	ENST00000338134	T	0.40476	1.03	4.14	4.14	0.48551	.	0.296499	0.32578	N	0.005903	T	0.32102	0.0818	L	0.46157	1.445	0.80722	D	1	B	0.24823	0.112	B	0.20384	0.029	T	0.09930	-1.0652	10	0.07030	T	0.85	-24.2829	13.3586	0.60642	0.0:0.0:1.0:0.0	.	222	Q9Y664	KPTN_HUMAN	E	222	ENSP00000337850:Q222E	ENSP00000337850:Q222E	Q	-	1	0	KPTN	52675412	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.834000	0.86773	1.862000	0.54008	0.298000	0.19748	CAG	KPTN	-	NULL	ENSG00000118162		0.697	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPTN	HGNC	protein_coding	OTTHUMT00000466672.2	15	0.00	0	G			47983600	47983600	-1	no_errors	ENST00000338134	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	1.000	C
LMTK2	22853	genome.wustl.edu	37	7	97823349	97823349	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr7:97823349delT	ENST00000297293.5	+	11	3865	c.3572delT	c.(3571-3573)gtgfs	p.V1191fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1191					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCCCAGCAGGTGCATCCCACG	0.582																																						dbGAP											0													71.0	64.0	66.0					7																	97823349		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3572delT	7.37:g.97823349delT	ENSP00000297293:p.Val1191fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D272|Q75MG7|Q9UPS3	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V1191fs	ENST00000297293.5	37	c.3572	CCDS5654.1	7																																																																																			LMTK2	-	NULL	ENSG00000164715		0.582	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	38	0.00	0	T	NM_014916		97823349	97823349	+1	no_errors	ENST00000297293	ensembl	human	known	69_37n	frame_shift_del	7	20.00	2	DEL	0.000	-
ARPP21	10777	genome.wustl.edu	37	3	35786037	35786037	+	Intron	SNP	T	T	C			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr3:35786037T>C	ENST00000187397.4	+	18	2488				ARPP21_ENST00000444190.1_Intron|MIR128-2_ENST00000384893.1_RNA|ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000417925.1_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa						cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AACCGGTCTCTTTCCCTACTG	0.567																																						dbGAP											0													71.0	72.0	72.0					3																	35786037		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2032+580T>C	3.37:g.35786037T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	RNA	SNP	-	NULL	ENST00000187397.4	37	NULL	CCDS2661.1	3																																																																																			MIR128-2	-	-	ENSG00000207625		0.567	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR128-2	HGNC	protein_coding	OTTHUMT00000253334.2	38	0.00	0	T	NM_198399		35786037	35786037	+1	no_errors	ENST00000384893	ensembl	human	known	69_37n	rna	19	17.39	4	SNP	1.000	C
MYO15A	51168	genome.wustl.edu	37	17	18046135	18046135	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr17:18046135G>A	ENST00000205890.5	+	25	6229	c.5891G>A	c.(5890-5892)aGc>aAc	p.S1964N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1964	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				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)					GCATACGTGAGCCGCCGACGC	0.587																																						dbGAP											0													42.0	47.0	45.0					17																	18046135		1998	4165	6163	-	-	-	SO:0001583	missense	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.5891G>A	17.37:g.18046135G>A	ENSP00000205890:p.Ser1964Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFC7	Missense_Mutation	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.S1964N	ENST00000205890.5	37	c.5891	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	2.863	-0.235691	0.05944	.	.	ENSG00000091536	ENST00000205890	D	0.87029	-2.2	5.12	-1.82	0.07857	.	.	.	.	.	T	0.67571	0.2907	N	0.04880	-0.145	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53078	-0.8489	9	0.07813	T	0.8	.	10.8887	0.46984	0.7768:0.0:0.2232:0.0	.	1964	Q9UKN7	MYO15_HUMAN	N	1964	ENSP00000205890:S1964N	ENSP00000205890:S1964N	S	+	2	0	MYO15A	17986860	0.998000	0.40836	0.197000	0.23402	0.290000	0.27261	0.749000	0.26320	-0.237000	0.09739	0.655000	0.94253	AGC	MYO15A	-	smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000091536		0.587	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	28	0.00	0	G	NM_016239		18046135	18046135	+1	no_errors	ENST00000205890	ensembl	human	known	69_37n	missense	34	15.00	6	SNP	0.877	A
NAPA	8775	genome.wustl.edu	37	19	48018149	48018149	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr19:48018149C>A	ENST00000263354.3	-	1	348	c.49G>T	c.(49-51)Gcg>Tcg	p.A17S	NAPA_ENST00000595227.1_Missense_Mutation_p.A17S|NAPA_ENST00000593785.1_5'UTR	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	17					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		TTGCGCTCCGCCTCGGCCAAC	0.627																																					Ovarian(185;1135 2042 27703 31345 42493)	dbGAP											0													62.0	53.0	56.0					19																	48018149		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.49G>T	19.37:g.48018149C>A	ENSP00000263354:p.Ala17Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K879|Q96IK3|Q9BVJ3	Missense_Mutation	SNP	prints_NSF_attach	p.A17S	ENST00000263354.3	37	c.49	CCDS12702.1	19	.	.	.	.	.	.	.	.	.	.	C	33	5.226331	0.95173	.	.	ENSG00000105402	ENST00000263354	T	0.56941	0.43	5.42	5.42	0.78866	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.81484	0.4832	H	0.96777	3.88	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.87318	0.2316	10	0.87932	D	0	-11.8978	14.7113	0.69235	0.0:1.0:0.0:0.0	.	17	P54920	SNAA_HUMAN	S	17	ENSP00000263354:A17S	ENSP00000263354:A17S	A	-	1	0	NAPA	52709961	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.583000	0.60964	2.554000	0.86153	0.484000	0.47621	GCG	NAPA	-	NULL	ENSG00000105402		0.627	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPA	HGNC	protein_coding	OTTHUMT00000466048.2	26	0.00	0	C	NM_003827		48018149	48018149	-1	no_errors	ENST00000263354	ensembl	human	known	69_37n	missense	24	20.00	6	SNP	1.000	A
NDUFB5	4711	genome.wustl.edu	37	3	179322623	179322623	+	Missense_Mutation	SNP	T	T	G			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr3:179322623T>G	ENST00000259037.3	+	1	134	c.20T>G	c.(19-21)tTg>tGg	p.L7W	MRPL47_ENST00000476781.1_5'Flank|MRPL47_ENST00000392659.2_5'Flank|NDUFB5_ENST00000472629.1_Missense_Mutation_p.L7W|MRPL47_ENST00000259038.2_5'Flank|NDUFB5_ENST00000493866.1_Missense_Mutation_p.L7W	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	7					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			ATGAGTTTGTTGCGGCGGGTT	0.607																																						dbGAP											0													41.0	42.0	42.0					3																	179322623		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"""Mitochondrial respiratory chain complex / Complex I"""	7700	protein-coding gene	gene with protein product	"""complex I SGDH subunit"""	603841	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"""			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.20T>G	3.37:g.179322623T>G	ENSP00000259037:p.Leu7Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q561V6	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_B5_su	p.L7W	ENST00000259037.3	37	c.20	CCDS3234.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.29|16.29	3.082071|3.082071	0.55861|0.55861	.|.	.|.	ENSG00000136521|ENSG00000136521	ENST00000482604|ENST00000259037;ENST00000493866;ENST00000472629	.|T;T;T	.|0.64438	.|0.13;-0.1;0.13	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.143299	.|0.47093	.|D	.|0.000243	T|T	0.79088|0.79088	0.4387|0.4387	M|M	0.79475|0.79475	2.455|2.455	0.48040|0.48040	D|D	0.999572|0.999572	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.972;0.999	T|T	0.81724|0.81724	-0.0802|-0.0802	5|10	.|0.87932	.|D	.|0	-4.7845|-4.7845	13.8671|13.8671	0.63594|0.63594	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|7;7	.|Q561V6;O43674	.|.;NDUB5_HUMAN	G|W	4|7	.|ENSP00000259037:L7W;ENSP00000419656:L7W;ENSP00000419248:L7W	.|ENSP00000259037:L7W	C|L	+|+	1|2	0|0	NDUFB5|NDUFB5	180805317|180805317	0.991000|0.991000	0.36638|0.36638	0.474000|0.474000	0.27266|0.27266	0.004000|0.004000	0.04260|0.04260	4.546000|4.546000	0.60705|0.60705	2.320000|2.320000	0.78422|0.78422	0.528000|0.528000	0.53228|0.53228	TGC|TTG	NDUFB5	-	pfam_NADH_UbQ_OxRdtase_B5_su	ENSG00000136521		0.607	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB5	HGNC	protein_coding	OTTHUMT00000348937.2	46	0.00	0	T	NM_002492		179322623	179322623	+1	no_errors	ENST00000259037	ensembl	human	known	69_37n	missense	59	10.61	7	SNP	0.899	G
NGEF	25791	genome.wustl.edu	37	2	233759478	233759478	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr2:233759478G>T	ENST00000264051.3	-	6	1255	c.977C>A	c.(976-978)gCt>gAt	p.A326D	NGEF_ENST00000539537.1_Missense_Mutation_p.A49D|NGEF_ENST00000409079.1_Missense_Mutation_p.A234D|NGEF_ENST00000373552.4_Missense_Mutation_p.A234D	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	326	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CTCACTGACAGCCAGCACGTC	0.597																																						dbGAP											0													73.0	67.0	69.0					2																	233759478		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.977C>A	2.37:g.233759478G>T	ENSP00000264051:p.Ala326Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.A326D	ENST00000264051.3	37	c.977	CCDS2500.1	2	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533015	0.45073	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735;ENST00000409079	T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.22	5.22	0.72569	Dbl homology (DH) domain (5);	0.182211	0.48767	D	0.000162	T	0.55513	0.1925	N	0.04746	-0.17	0.49915	D	0.999832	B;P;D	0.57571	0.022;0.768;0.98	B;P;P	0.60236	0.048;0.634;0.871	T	0.52571	-0.8558	10	0.07175	T	0.84	-21.2704	18.7943	0.91988	0.0:0.0:1.0:0.0	.	234;234;326	E9PC42;B4DMB8;Q8N5V2	.;.;NGEF_HUMAN	D	326;234;216;49;49;49;234	ENSP00000264051:A326D;ENSP00000362653:A234D;ENSP00000439035:A49D;ENSP00000401063:A49D;ENSP00000412614:A49D;ENSP00000387033:A234D	ENSP00000264051:A326D	A	-	2	0	NGEF	233467722	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	5.506000	0.66993	2.440000	0.82611	0.655000	0.94253	GCT	NGEF	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000066248		0.597	NGEF-001	KNOWN	basic|CCDS	protein_coding	NGEF	HGNC	protein_coding	OTTHUMT00000257051.2	18	0.00	0	G	XM_044799		233759478	233759478	-1	no_errors	ENST00000264051	ensembl	human	known	69_37n	missense	6	40.00	4	SNP	0.998	T
NLGN2	57555	genome.wustl.edu	37	17	7320448	7320448	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr17:7320448C>T	ENST00000302926.2	+	7	1911	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	RP11-104H15.7_ENST00000575310.1_RNA|NLGN2_ENST00000575301.1_Missense_Mutation_p.T613M	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	613					cell-cell junction maintenance (GO:0045217)|gephyrin clustering (GO:0097116)|locomotory exploration behavior (GO:0035641)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|sensory perception of pain (GO:0019233)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				AACCTGCACACGGAGCTCTTC	0.706																																						dbGAP											0													91.0	68.0	76.0					17																	7320448		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037787	CCDS11103.1	17p13.2	2008-07-18			ENSG00000169992	ENSG00000169992			14290	protein-coding gene	gene with protein product		606479				10767552, 10819331	Standard	NM_020795		Approved	KIAA1366	uc002ggt.1	Q8NFZ4	OTTHUMG00000108138	ENST00000302926.2:c.1838C>T	17.37:g.7320448C>T	ENSP00000305288:p.Thr613Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9P2I1	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.T613M	ENST00000302926.2	37	c.1838	CCDS11103.1	17	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223425	0.58668	.	.	ENSG00000169992	ENST00000302926	T	0.66815	-0.23	4.61	4.61	0.57282	.	0.825336	0.11128	N	0.596685	T	0.62368	0.2422	L	0.36672	1.1	0.37505	D	0.916925	D	0.56746	0.977	P	0.46237	0.508	T	0.60347	-0.7281	10	0.23302	T	0.38	.	15.317	0.74089	0.0:1.0:0.0:0.0	.	613	Q8NFZ4	NLGN2_HUMAN	M	613	ENSP00000305288:T613M	ENSP00000305288:T613M	T	+	2	0	NLGN2	7261172	0.992000	0.36948	0.977000	0.42913	0.976000	0.68499	2.939000	0.48995	2.550000	0.86006	0.561000	0.74099	ACG	NLGN2	-	NULL	ENSG00000169992		0.706	NLGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN2	HGNC	protein_coding	OTTHUMT00000226941.2	12	0.00	0	C	NM_020795		7320448	7320448	+1	no_errors	ENST00000302926	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	0.981	T
NOSIP	51070	genome.wustl.edu	37	19	50060466	50060466	+	Missense_Mutation	SNP	T	T	G			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr19:50060466T>G	ENST00000596358.1	-	5	357	c.299A>C	c.(298-300)aAg>aCg	p.K100T	NOSIP_ENST00000339093.3_Missense_Mutation_p.K100T|NOSIP_ENST00000391853.3_Missense_Mutation_p.K100T	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	100					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CTGAAGCTCCTTCTGCTCCTC	0.672																																						dbGAP											0													21.0	23.0	22.0					19																	50060466		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.299A>C	19.37:g.50060466T>G	ENSP00000470034:p.Lys100Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FD2	Missense_Mutation	SNP	pirsf_Nitric_oxide_synth-interacting	p.K100T	ENST00000596358.1	37	c.299	CCDS12772.1	19	.	.	.	.	.	.	.	.	.	.	T	13.60	2.287015	0.40494	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T;T	0.18016	2.24;2.24	5.15	2.84	0.33178	.	0.378221	0.27420	N	0.019455	T	0.06690	0.0171	N	0.10874	0.06	0.36967	D	0.893649	B	0.09022	0.002	B	0.09377	0.004	T	0.25950	-1.0117	10	0.17369	T	0.5	-12.1569	3.187	0.06604	0.0:0.265:0.2181:0.5169	.	100	Q9Y314	NOSIP_HUMAN	T	100	ENSP00000343497:K100T;ENSP00000375726:K100T	ENSP00000343497:K100T	K	-	2	0	NOSIP	54752278	0.213000	0.23551	0.936000	0.37596	0.927000	0.56198	0.437000	0.21543	0.777000	0.33496	0.379000	0.24179	AAG	NOSIP	-	pirsf_Nitric_oxide_synth-interacting	ENSG00000142546		0.672	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NOSIP	HGNC	protein_coding	OTTHUMT00000465423.1	18	0.00	0	T			50060466	50060466	-1	no_errors	ENST00000339093	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	0.800	G
TENM3	55714	genome.wustl.edu	37	4	183721007	183721007	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr4:183721007G>A	ENST00000511685.1	+	28	7726	c.7603G>A	c.(7603-7605)Gag>Aag	p.E2535K	TENM3_ENST00000406950.2_Missense_Mutation_p.E2535K			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2535					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTTCTACCTGGAGAACCTGCA	0.637																																						dbGAP											0													33.0	38.0	36.0					4																	183721007		2196	4281	6477	-	-	-	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.7603G>A	4.37:g.183721007G>A	ENSP00000424226:p.Glu2535Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E2535K	ENST00000511685.1	37	c.7603	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359101	0.82353	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.86432	-2.12;-2.12	4.58	4.58	0.56647	.	.	.	.	.	T	0.80929	0.4718	L	0.52759	1.655	0.80722	D	1	P	0.34522	0.455	B	0.25759	0.063	T	0.78947	-0.2003	9	0.07644	T	0.81	.	17.9325	0.89002	0.0:0.0:1.0:0.0	.	2535	Q9P273	TEN3_HUMAN	K	2535	ENSP00000424226:E2535K;ENSP00000385276:E2535K	ENSP00000385276:E2535K	E	+	1	0	ODZ3	183958001	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.648000	0.83479	2.543000	0.85770	0.557000	0.71058	GAG	ODZ3	-	NULL	ENSG00000218336		0.637	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ3	HGNC	protein_coding	OTTHUMT00000361734.1	20	0.00	0	G			183721007	183721007	+1	no_errors	ENST00000406950	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	1.000	A
OTX2	5015	genome.wustl.edu	37	14	57268782	57268782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr14:57268782G>A	ENST00000555006.1	-	4	949	c.541C>T	c.(541-543)Cag>Tag	p.Q181*	RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Nonsense_Mutation_p.Q181*|OTX2_ENST00000339475.5_Nonsense_Mutation_p.Q189*|OTX2_ENST00000554559.1_3'UTR			P32243	OTX2_HUMAN	orthodenticle homeobox 2	181					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					CCTGAAGCCTGAGTATAGGTC	0.522																																						dbGAP											0													119.0	109.0	113.0					14																	57268782		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.541C>T	14.37:g.57268782G>A	ENSP00000452336:p.Gln181*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Nonsense_Mutation	SNP	pfam_Otx_TF_C,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Otx2_TF,prints_Otx_TF,pfscan_Homeodomain	p.Q189*	ENST00000555006.1	37	c.565	CCDS41960.1	14	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714806	0.89112	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845	.	.	.	6.06	6.06	0.98353	.	0.000000	0.44285	D	0.000465	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	19.1989	0.93701	0.0:0.0:1.0:0.0	.	.	.	.	X	189;181;181;189	.	ENSP00000343819:Q189X	Q	-	1	0	OTX2	56338535	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	CAG	OTX2	-	pfam_Otx_TF_C,prints_Otx2_TF,prints_Otx_TF	ENSG00000165588		0.522	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OTX2	HGNC	protein_coding	OTTHUMT00000411522.1	76	0.00	0	G	NM_021728.		57268782	57268782	-1	no_errors	ENST00000339475	ensembl	human	known	69_37n	nonsense	42	15.69	8	SNP	1.000	A
PATZ1	23598	genome.wustl.edu	37	22	31731814	31731814	+	Silent	SNP	C	C	T			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr22:31731814C>T	ENST00000266269.5	-	3	2000	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L	RP3-400N23.6_ENST00000440456.1_RNA|RP3-400N23.6_ENST00000451161.1_RNA|PATZ1_ENST00000405309.3_Silent_p.L457L|PATZ1_ENST00000351933.4_Silent_p.L457L	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	457					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GGTGGGAGCGCAGACGGTCTC	0.567																																						dbGAP											0													81.0	69.0	73.0					22																	31731814		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1371G>A	22.37:g.31731814C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Silent	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L457	ENST00000266269.5	37	c.1371	CCDS13894.1	22																																																																																			PATZ1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000100105		0.567	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1	38	0.00	0	C	NM_032052		31731814	31731814	-1	no_errors	ENST00000266269	ensembl	human	known	69_37n	silent	19	51.28	20	SNP	1.000	T
POLR3A	11128	genome.wustl.edu	37	10	79784451	79784451	+	Silent	SNP	C	C	T			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr10:79784451C>T	ENST00000372371.3	-	5	638	c.501G>A	c.(499-501)aaG>aaA	p.K167K		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	167					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTCCACACTTCTTTACGGTAC	0.333																																						dbGAP											0													89.0	90.0	89.0					10																	79784451		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.501G>A	10.37:g.79784451C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW34|Q8TCW5	Silent	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.K167	ENST00000372371.3	37	c.501	CCDS7354.1	10																																																																																			POLR3A	-	pfam_RNA_pol_Rpb1_1	ENSG00000148606		0.333	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	56	0.00	0	C	NM_007055		79784451	79784451	-1	no_errors	ENST00000372371	ensembl	human	known	69_37n	silent	114	17.99	25	SNP	1.000	T
PRPF40A	55660	genome.wustl.edu	37	2	153515699	153515699	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr2:153515699G>A	ENST00000410080.1	-	23	2955	c.2414C>T	c.(2413-2415)tCa>tTa	p.S805L		NM_017892.3	NP_060362.3	O75400	PR40A_HUMAN	PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)	832					cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|mRNA processing (GO:0006397)|regulation of cell shape (GO:0008360)|regulation of cytokinesis (GO:0032465)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						ATCTGAATCTGACCCCTAAAA	0.373																																						dbGAP											0													93.0	84.0	87.0					2																	153515699		1847	4097	5944	-	-	-	SO:0001583	missense	0			AF049523	CCDS46430.1	2q23.3	2010-01-25	2007-01-12	2006-01-13	ENSG00000196504	ENSG00000196504			16463	protein-coding gene	gene with protein product		612941	"""formin-binding protein 3"", ""formin binding protein 3"", ""PRP40 pre-mRNA processing factor 40 homolog A (yeast)"""	FNBP3		9724750, 12460579	Standard	NM_017892		Approved	FLJ20585, FBP11, HYPA, NY-REN-6, HIP10, FBP-11, FLAF1, Prp40	uc002tyh.4	O75400	OTTHUMG00000154031	ENST00000410080.1:c.2414C>T	2.37:g.153515699G>A	ENSP00000386458:p.Ser805Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O43856|O75404|Q8TBQ1|Q9H782|Q9NWU9|Q9P0Q2|Q9Y5A8	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP,prints_Antifreeze_1	p.S805L	ENST00000410080.1	37	c.2414	CCDS46430.1	2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293179	0.80914	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000440252;ENST00000359961	T	0.36340	1.26	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.80982	2.52	0.80722	D	1	D;D	0.57899	0.981;0.967	D;D	0.69824	0.966;0.916	T	0.62770	-0.6784	10	0.41790	T	0.15	-10.4703	19.5019	0.95098	0.0:0.0:1.0:0.0	.	832;805	O75400;E9PFS0	PR40A_HUMAN;.	L	805;814;701;756	ENSP00000386458:S805L	ENSP00000348770:S814L	S	-	2	0	PRPF40A	153223945	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.813000	0.99286	2.697000	0.92050	0.563000	0.77884	TCA	PRPF40A	-	NULL	ENSG00000196504		0.373	PRPF40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF40A	HGNC	protein_coding	OTTHUMT00000333559.2	75	0.00	0	G	XM_371575		153515699	153515699	-1	no_errors	ENST00000410080	ensembl	human	known	69_37n	missense	32	28.89	13	SNP	1.000	A
PTK6	5753	genome.wustl.edu	37	20	62163955	62163955	+	Silent	SNP	G	G	A			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr20:62163955G>A	ENST00000217185.2	-	5	783	c.756C>T	c.(754-756)gcC>gcT	p.A252A	PTK6_ENST00000542869.1_Silent_p.A151A	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	CGGACACCACGGCGTACAGCG	0.652																																						dbGAP											0													110.0	89.0	96.0					20																	62163955		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"""SH2 domain containing"""	9617	protein-coding gene	gene with protein product		602004	"""PTK6 protein tyrosine kinase 6"""			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.756C>T	20.37:g.62163955G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCR3|B4DW46|Q58F01	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.A252	ENST00000217185.2	37	c.756	CCDS13524.1	20																																																																																			PTK6	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000101213		0.652	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK6	HGNC	protein_coding	OTTHUMT00000080313.1	35	0.00	0	G			62163955	62163955	-1	no_errors	ENST00000217185	ensembl	human	known	69_37n	silent	21	36.36	12	SNP	0.000	A
PTPRN2	5799	genome.wustl.edu	37	7	158109540	158109540	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr7:158109540C>T	ENST00000389418.4	-	3	257	c.248G>A	c.(247-249)cGc>cAc	p.R83H	PTPRN2_ENST00000389416.4_Missense_Mutation_p.R66H|PTPRN2_ENST00000409483.1_Intron|PTPRN2_ENST00000389413.3_Missense_Mutation_p.R83H|PTPRN2_ENST00000404321.2_Missense_Mutation_p.R106H	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	83					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAACGCCACGCGCAGGCGCTG	0.657																																						dbGAP											0													48.0	44.0	45.0					7																	158109540		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.248G>A	7.37:g.158109540C>T	ENSP00000374069:p.Arg83His	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.R106H	ENST00000389418.4	37	c.317	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	C	10.79	1.448892	0.26074	.	.	ENSG00000155093	ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T	0.03717	3.83;3.84;3.84;3.85	4.88	0.894	0.19242	.	.	.	.	.	T	0.06325	0.0163	L	0.42245	1.32	0.09310	N	1	D;D;D;D	0.64830	0.994;0.994;0.989;0.989	P;P;P;P	0.51582	0.674;0.674;0.474;0.474	T	0.35375	-0.9791	9	0.56958	D	0.05	.	7.1562	0.25639	0.0:0.6092:0.1472:0.2436	.	106;83;66;83	Q92932-3;Q92932-2;E9PC57;Q92932	.;.;.;PTPR2_HUMAN	H	83;66;83;106	ENSP00000374064:R83H;ENSP00000374067:R66H;ENSP00000374069:R83H;ENSP00000385464:R106H	ENSP00000374064:R83H	R	-	2	0	PTPRN2	157802301	0.058000	0.20735	0.105000	0.21289	0.013000	0.08279	0.816000	0.27267	0.103000	0.17682	0.650000	0.86243	CGC	PTPRN2	-	NULL	ENSG00000155093		0.657	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	HGNC	protein_coding	OTTHUMT00000353214.1	13	0.00	0	C			158109540	158109540	-1	no_errors	ENST00000404321	ensembl	human	known	69_37n	missense	15	54.55	18	SNP	0.130	T
SLC12A5	57468	genome.wustl.edu	37	20	44673645	44673645	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr20:44673645C>G	ENST00000454036.2	+	12	1553	c.1504C>G	c.(1504-1506)Ctg>Gtg	p.L502V	SLC12A5_ENST00000243964.3_Missense_Mutation_p.L479V	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	502					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGTGGGCACTCTGGCCTGGCC	0.617																																						dbGAP											0													185.0	168.0	174.0					20																	44673645		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1504C>G	20.37:g.44673645C>G	ENSP00000387694:p.Leu502Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.L502V	ENST00000454036.2	37	c.1504	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160681	0.38119	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98849	-5.18;-5.18	4.12	4.12	0.48240	Amino acid permease domain (1);	0.000000	0.56097	D	0.000036	D	0.96463	0.8846	L	0.31926	0.97	0.80722	D	1	B;B	0.30824	0.198;0.296	B;B	0.35278	0.199;0.106	D	0.95800	0.8832	10	0.25751	T	0.34	.	15.1071	0.72329	0.0:1.0:0.0:0.0	.	502;479	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	V	502;479	ENSP00000387694:L502V;ENSP00000243964:L479V	ENSP00000243964:L479V	L	+	1	2	SLC12A5	44107052	0.998000	0.40836	0.993000	0.49108	0.484000	0.33280	3.595000	0.54016	2.117000	0.64856	0.313000	0.20887	CTG	SLC12A5	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.617	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	44	0.00	0	C			44673645	44673645	+1	no_errors	ENST00000454036	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	0.995	G
SLC26A11	284129	genome.wustl.edu	37	17	78210729	78210729	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr17:78210729C>T	ENST00000361193.3	+	8	1019	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	SLC26A11_ENST00000572725.1_Missense_Mutation_p.R247C|SLC26A11_ENST00000546047.2_Missense_Mutation_p.R247C|SLC26A11_ENST00000411502.3_Missense_Mutation_p.R247C	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCTCCTAGCTCGCAACGCCCT	0.632																																						dbGAP											0													174.0	136.0	149.0					17																	78210729		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.739C>T	17.37:g.78210729C>T	ENSP00000355384:p.Arg247Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.R247C	ENST00000361193.3	37	c.739	CCDS11771.2	17	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610243	0.87258	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.93366	-3.21;-3.21;-3.21	5.06	5.06	0.68205	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.98046	0.9356	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99180	1.0867	10	0.56958	D	0.05	-30.744	18.0143	0.89233	0.0:1.0:0.0:0.0	.	247	Q86WA9	S2611_HUMAN	C	247	ENSP00000403998:R247C;ENSP00000440724:R247C;ENSP00000355384:R247C	ENSP00000355384:R247C	R	+	1	0	SLC26A11	75825324	1.000000	0.71417	0.998000	0.56505	0.537000	0.34900	4.341000	0.59335	2.329000	0.79093	0.467000	0.42956	CGC	SLC26A11	-	pfam_Sulph_transpt	ENSG00000181045		0.632	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A11	HGNC	protein_coding	OTTHUMT00000257281.1	25	0.00	0	C			78210729	78210729	+1	no_errors	ENST00000361193	ensembl	human	known	69_37n	missense	36	17.78	8	SNP	1.000	T
TMBIM1	64114	genome.wustl.edu	37	2	219142384	219142384	+	Missense_Mutation	SNP	T	T	C			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr2:219142384T>C	ENST00000444881.1	-	9	1248	c.523A>G	c.(523-525)Atg>Gtg	p.M175V	TMBIM1_ENST00000445635.1_Start_Codon_SNP_p.M1V|TMBIM1_ENST00000396809.2_Missense_Mutation_p.M175V|TMBIM1_ENST00000258412.3_Missense_Mutation_p.M175V|PNKD_ENST00000472650.1_Intron|PNKD_ENST00000273077.4_Intron			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1	175					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of Fas signaling pathway (GO:1902045)|negative regulation of metalloenzyme activity (GO:0048553)|positive regulation of blood vessel remodeling (GO:2000504)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	death receptor binding (GO:0005123)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGAAGCCCATGGCAAAAGTC	0.537																																						dbGAP											0													99.0	90.0	93.0					2																	219142384		2203	4300	6503	-	-	-	SO:0001583	missense	0			BN000408	CCDS2412.1	2q35	2010-03-18			ENSG00000135926	ENSG00000135926			23410	protein-coding gene	gene with protein product		610364				12477932	Standard	NM_022152		Approved	PP1201, RECS1, LFG3	uc002vhp.1	Q969X1	OTTHUMG00000133105	ENST00000444881.1:c.523A>G	2.37:g.219142384T>C	ENSP00000409738:p.Met175Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.M175V	ENST00000444881.1	37	c.523	CCDS2412.1	2	.	.	.	.	.	.	.	.	.	.	T	15.46	2.838792	0.51057	.	.	ENSG00000135926	ENST00000258412;ENST00000444881;ENST00000396809;ENST00000445635;ENST00000543441	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.98	-8.97	0.00758	.	0.379053	0.31847	N	0.006977	T	0.39759	0.1090	M	0.85777	2.775	0.80722	D	1	B;B	0.25850	0.052;0.136	B;B	0.36092	0.084;0.217	T	0.30909	-0.9962	10	0.33141	T	0.24	-10.3139	7.2986	0.26408	0.3821:0.0:0.3115:0.3064	.	113;175	B4DNZ1;Q969X1	.;TMBI1_HUMAN	V	175;175;175;1;113	ENSP00000258412:M175V;ENSP00000409738:M175V;ENSP00000380025:M175V;ENSP00000401491:M1V	ENSP00000258412:M175V	M	-	1	0	TMBIM1	218850628	0.483000	0.25956	0.446000	0.26920	0.993000	0.82548	-0.238000	0.08977	-1.676000	0.01457	0.533000	0.62120	ATG	TMBIM1	-	pfam_Bax_inhibitor_1-related	ENSG00000135926		0.537	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMBIM1	HGNC	protein_coding	OTTHUMT00000338559.1	46	0.00	0	T	NM_022152		219142384	219142384	-1	no_errors	ENST00000258412	ensembl	human	known	69_37n	missense	9	57.14	12	SNP	0.571	C
TP53	7157	genome.wustl.edu	37	17	7577509	7577509	+	Nonsense_Mutation	SNP	C	C	A	rs121912652		TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr17:7577509C>A	ENST00000269305.4	-	7	961	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	TP53_ENST00000420246.2_Nonsense_Mutation_p.E258*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.E258*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E258*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E258*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E258*	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	258	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1978757}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E258K(40)|p.E258*(15)|p.E258Q(9)|p.0?(8)|p.?(1)|p.E258fs*85(1)|p.E258>XX(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(1)|p.T256fs*87(1)|p.E258L(1)|p.E258fs*87(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)	CTGGAGTCTTCCAGTGTGATG	0.587		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"""	82	Substitution - Missense(50)|Substitution - Nonsense(15)|Whole gene deletion(8)|Deletion - Frameshift(5)|Deletion - In frame(2)|Unknown(1)|Complex - insertion inframe(1)	large_intestine(14)|urinary_tract(10)|upper_aerodigestive_tract(7)|haematopoietic_and_lymphoid_tissue(7)|skin(7)|lung(6)|oesophagus(5)|central_nervous_system(4)|breast(4)|ovary(4)|bone(4)|stomach(2)|liver(2)|thyroid(1)|soft_tissue(1)|peritoneum(1)|biliary_tract(1)|endometrium(1)|pancreas(1)	GRCh37	CM900213	TP53	M	rs121912652						137.0	97.0	111.0					17																	7577509		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.772G>T	17.37:g.7577509C>A	ENSP00000269305:p.Glu258*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_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.E258*	ENST00000269305.4	37	c.772	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	15.63	2.891139	0.52014	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.62	3.62	0.41486	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.9865	12.6215	0.56605	0.0:0.8318:0.1682:0.0	.	.	.	.	X	258;258;258;258;258;258;247;126	.	ENSP00000269305:E258X	E	-	1	0	TP53	7518234	1.000000	0.71417	1.000000	0.80357	0.402000	0.30811	7.609000	0.82925	1.266000	0.44231	0.462000	0.41574	GAA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	40	0.00	0	C	NM_000546		7577509	7577509	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	nonsense	7	74.07	20	SNP	1.000	A
TRAF3IP1	26146	genome.wustl.edu	37	2	239233967	239233967	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr2:239233967C>A	ENST00000373327.4	+	2	366	c.144C>A	c.(142-144)ttC>ttA	p.F48L	TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.F48L|TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.F48L	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	48	Abolishes microtubules-binding when missing.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		TGACTGGTTTCATGAAGGGCC	0.498																																						dbGAP											0													177.0	174.0	175.0					2																	239233967		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.144C>A	2.37:g.239233967C>A	ENSP00000362424:p.Phe48Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	pfam_Microtubule/TRAF3/DISC1-bd	p.F48L	ENST00000373327.4	37	c.144	CCDS33415.1	2	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078482	0.55753	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.17691	2.26;2.26;2.26	4.45	1.58	0.23477	.	0.098781	0.64402	D	0.000001	T	0.35537	0.0935	M	0.73372	2.23	0.58432	D	0.999997	D;D	0.65815	0.995;0.992	D;D	0.81914	0.995;0.989	T	0.12372	-1.0550	10	0.72032	D	0.01	-21.2149	9.115	0.36753	0.0:0.6848:0.0:0.3152	.	48;48	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	L	48	ENSP00000375851:F48L;ENSP00000362424:F48L;ENSP00000375852:F48L	ENSP00000362424:F48L	F	+	3	2	TRAF3IP1	238898706	0.988000	0.35896	1.000000	0.80357	0.999000	0.98932	0.355000	0.20163	0.852000	0.35287	0.655000	0.94253	TTC	TRAF3IP1	-	NULL	ENSG00000204104		0.498	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRAF3IP1	HGNC	protein_coding	OTTHUMT00000328312.1	128	0.00	0	C	NM_015650		239233967	239233967	+1	no_errors	ENST00000373327	ensembl	human	known	69_37n	missense	47	18.97	11	SNP	0.936	A
TRIM32	22954	genome.wustl.edu	37	9	119460255	119460255	+	Missense_Mutation	SNP	C	C	G			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr9:119460255C>G	ENST00000450136.1	+	2	395	c.234C>G	c.(232-234)gaC>gaG	p.D78E	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.D78E|ASTN2_ENST00000361209.2_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	78					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AGCTGACAGACAATCTGACAG	0.562																																					Esophageal Squamous(92;212 1916 19711 26951)	dbGAP											0													87.0	75.0	79.0					9																	119460255		2203	4300	6503	-	-	-	SO:0001583	missense	0			U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.234C>G	9.37:g.119460255C>G	ENSP00000408292:p.Asp78Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NQP8	Missense_Mutation	SNP	pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.D78E	ENST00000450136.1	37	c.234	CCDS6817.1	9	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561846	0.45590	.	.	ENSG00000119401	ENST00000450136;ENST00000373983;ENST00000411410	D;D;D	0.92699	-3.09;-3.09;-3.09	5.36	4.46	0.54185	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.91975	0.7458	L	0.29908	0.895	0.47476	D	0.99943	D	0.76494	0.999	D	0.73708	0.981	D	0.90196	0.4253	9	.	.	.	-25.0621	10.3128	0.43718	0.0:0.8495:0.0:0.1505	.	78	Q13049	TRI32_HUMAN	E	78	ENSP00000408292:D78E;ENSP00000363095:D78E;ENSP00000412603:D78E	.	D	+	3	2	TRIM32	118500076	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.340000	0.43974	1.244000	0.43870	0.655000	0.94253	GAC	TRIM32	-	NULL	ENSG00000119401		0.562	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM32	HGNC	protein_coding	OTTHUMT00000055466.2	38	0.00	0	C	NM_012210		119460255	119460255	+1	no_errors	ENST00000373983	ensembl	human	known	69_37n	missense	27	18.18	6	SNP	1.000	G
TRPV3	162514	genome.wustl.edu	37	17	3458079	3458079	+	Silent	SNP	G	G	A			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr17:3458079G>A	ENST00000576742.1	-	2	387	c.66C>T	c.(64-66)aaC>aaT	p.N22N	TRPV3_ENST00000301365.4_Silent_p.N22N|TRPV3_ENST00000572519.1_Silent_p.N22N	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	22					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGATGGCAGGGTTCCCACTGG	0.617																																						dbGAP											0													43.0	44.0	43.0					17																	3458079		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.66C>T	17.37:g.3458079G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel	p.N22	ENST00000576742.1	37	c.66	CCDS11029.1	17																																																																																			TRPV3	-	NULL	ENSG00000167723		0.617	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPV3	HGNC	protein_coding	OTTHUMT00000207379.2	33	0.00	0	G	NM_145068		3458079	3458079	-1	no_errors	ENST00000301365	ensembl	human	known	69_37n	silent	4	84.00	21	SNP	0.782	A
VEZF1	7716	genome.wustl.edu	37	17	56056604	56056605	+	In_Frame_Ins	INS	-	-	TGC	rs61731354|rs57786397|rs138088904|rs369163670	byFrequency	TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr17:56056604_56056605insTGC	ENST00000581208.1	-	5	1086_1087	c.1046_1047insGCA	c.(1045-1047)caa>caGCAa	p.349_349Q>QQ	VEZF1_ENST00000584396.1_In_Frame_Ins_p.340_340Q>QQ	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	349	Poly-Gln.				angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						gttgttgttgttgctgctgctg	0.465																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1044_1046dupGCA	17.37:g.56056611_56056613dupTGC	ENSP00000462337:p.Gln354dup	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.353in_frame_insQ	ENST00000581208.1	37	c.1047_1046	CCDS32687.1	17																																																																																			VEZF1	-	NULL	ENSG00000136451		0.465	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VEZF1	HGNC	protein_coding	OTTHUMT00000443321.1	68	0.00	0	-			56056604	56056605	-1	no_errors	ENST00000581208	ensembl	human	known	69_37n	in_frame_ins	100	26.47	36	INS	0.934:0.940	TGC
WSB1	26118	genome.wustl.edu	37	17	25637155	25637155	+	Missense_Mutation	SNP	C	C	A			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr17:25637155C>A	ENST00000262394.2	+	7	1269	c.953C>A	c.(952-954)tCt>tAt	p.S318Y	WSB1_ENST00000348811.2_Missense_Mutation_p.S172Y	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	318					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CGATCTGTATCTTTTAGCCAT	0.413																																						dbGAP											0													221.0	183.0	196.0					17																	25637155		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"""WD repeat domain containing"""	19221	protein-coding gene	gene with protein product		610091	"""WD repeat and SOCS box-containing 1"""			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.953C>A	17.37:g.25637155C>A	ENSP00000262394:p.Ser318Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,prints_G-protein_beta_WD-40_rep,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S318Y	ENST00000262394.2	37	c.953	CCDS11220.1	17	.	.	.	.	.	.	.	.	.	.	C	23.6	4.429825	0.83776	.	.	ENSG00000109046	ENST00000262394;ENST00000348811	T;T	0.62941	-0.01;-0.01	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.74981	0.3788	M	0.62209	1.925	0.53688	D	0.999972	D;D	0.58620	0.978;0.983	P;P	0.60541	0.804;0.876	T	0.76432	-0.2961	10	0.87932	D	0	-14.8905	16.3894	0.83528	0.0:0.8686:0.1314:0.0	.	172;318	Q9Y6I7-2;Q9Y6I7	.;WSB1_HUMAN	Y	318;172	ENSP00000262394:S318Y;ENSP00000327055:S172Y	ENSP00000262394:S318Y	S	+	2	0	WSB1	22661282	1.000000	0.71417	0.975000	0.42487	0.999000	0.98932	4.868000	0.63021	2.798000	0.96311	0.655000	0.94253	TCT	WSB1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000109046		0.413	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSB1	HGNC	protein_coding	OTTHUMT00000255391.4	90	0.00	0	C	NM_015626		25637155	25637155	+1	no_errors	ENST00000262394	ensembl	human	known	69_37n	missense	181	12.56	26	SNP	0.985	A
ZCCHC11	23318	genome.wustl.edu	37	1	52911474	52911474	+	Silent	SNP	G	G	A			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr1:52911474G>A	ENST00000371544.3	-	24	4069	c.3807C>T	c.(3805-3807)ctC>ctT	p.L1269L	ZCCHC11_ENST00000257177.4_Silent_p.L1269L	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1269					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTCTGCCAATGAGTGGATAAA	0.294																																						dbGAP											0													86.0	97.0	93.0					1																	52911474		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3807C>T	1.37:g.52911474G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.H119Y	ENST00000371544.3	37	c.355	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	G	6.215	0.407764	0.11754	.	.	ENSG00000134744	ENST00000474453	.	.	.	5.62	4.61	0.57282	.	.	.	.	.	T	0.61073	0.2318	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57579	-0.7787	4	.	.	.	.	10.1358	0.42706	0.15:0.0:0.85:0.0	.	.	.	.	Y	119	.	.	H	-	1	0	ZCCHC11	52684062	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.655000	0.24933	2.655000	0.90218	0.650000	0.86243	CAT	ZCCHC11	-	NULL	ENSG00000134744		0.294	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	74	0.00	0	G	XM_038288		52911474	52911474	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000474453	ensembl	human	novel	69_37n	missense	14	26.32	5	SNP	0.995	A
ZSCAN32	54925	genome.wustl.edu	37	16	3434862	3434862	+	Silent	SNP	G	G	C			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr16:3434862G>C	ENST00000396852.4	-	6	1138	c.831C>G	c.(829-831)ctC>ctG	p.L277L	ZSCAN32_ENST00000574940.1_Silent_p.L277L|ZSCAN32_ENST00000422427.2_Silent_p.L65L|ZSCAN32_ENST00000304926.3_Silent_p.L65L|ZSCAN32_ENST00000439568.2_5'UTR|ZSCAN32_ENST00000396846.3_Silent_p.L277L|ZSCAN32_ENST00000573830.1_5'UTR	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	277	KRAB.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)										GACAGGTCTGGAGTTTTCCAT	0.527																																						dbGAP											0													85.0	91.0	89.0					16																	3434862		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.831C>G	16.37:g.3434862G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	p.S149C	ENST00000396852.4	37	c.446		16																																																																																			ZNF434	-	NULL	ENSG00000140987		0.527	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	ZNF434	HGNC	protein_coding	OTTHUMT00000251509.2	35	0.00	0	G	NM_017810		3434862	3434862	-1	no_errors	ENST00000576500	ensembl	human	known	69_37n	missense	26	16.13	5	SNP	0.001	C
ZNF528	84436	genome.wustl.edu	37	19	52909856	52909856	+	Silent	SNP	C	C	T	rs200968350	byFrequency	TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr19:52909856C>T	ENST00000360465.3	+	6	657	c.231C>T	c.(229-231)aaC>aaT	p.N77N	ZNF528_ENST00000598192.1_Silent_p.N77N|ZNF528_ENST00000391788.2_Silent_p.N67N|ZNF528_ENST00000594530.1_Silent_p.N77N	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	77	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AAATAGCAAACGATCCAGACG	0.468													C|||	2	0.000399361	0.0	0.0	5008	,	,		17006	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													102.0	97.0	99.0					19																	52909856		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.231C>T	19.37:g.52909856C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPN4|Q86T88|Q96JK0	Nonsense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.R47*	ENST00000360465.3	37	c.139	CCDS33091.1	19	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	1.910	-0.451058	0.04572	.	.	ENSG00000167555	ENST00000448954	.	.	.	1.47	-2.18	0.07037	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.513	0.04661	0.4177:0.2948:0.2876:0.0	.	.	.	.	X	47	.	.	R	+	1	2	ZNF528	57601668	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.457000	0.06745	-0.589000	0.05874	-0.538000	0.04264	CGA	ZNF528	-	pfscan_Krueppel-associated_box	ENSG00000167555		0.468	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	HGNC	protein_coding	OTTHUMT00000344336.1	76	0.00	0	C	NM_032423		52909856	52909856	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000448954	ensembl	human	putative	69_37n	nonsense	60	17.81	13	SNP	0.000	T
ZNF611	81856	genome.wustl.edu	37	19	53209818	53209818	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1OZ-01A-11D-A142-09	TCGA-EW-A1OZ-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a73152be-2293-403d-940b-74ac05810808	86f8904b-36e9-4dbf-9cd4-dafefc783b32	g.chr19:53209818G>C	ENST00000319783.1	-	7	806	c.490C>G	c.(490-492)Ctg>Gtg	p.L164V	ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000543227.1_Missense_Mutation_p.L164V|ZNF611_ENST00000595798.1_Missense_Mutation_p.L95V|ZNF611_ENST00000540744.1_Missense_Mutation_p.L164V|ZNF611_ENST00000453741.2_Missense_Mutation_p.L95V|ZNF611_ENST00000602162.1_Missense_Mutation_p.L95V	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AGTTCAGGCAGATGTGAATAA	0.373																																						dbGAP											0													132.0	132.0	132.0					19																	53209818		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.490C>G	19.37:g.53209818G>C	ENSP00000322427:p.Leu164Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRD5|Q69YG9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L164V	ENST00000319783.1	37	c.490	CCDS12855.1	19	.	.	.	.	.	.	.	.	.	.	.	10.92	1.485678	0.26686	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.10192	3.08;3.08;2.9;3.08	1.99	-0.313	0.12754	.	.	.	.	.	T	0.23611	0.0571	M	0.85859	2.78	0.09310	N	1	D	0.65815	0.995	P	0.61722	0.893	T	0.24584	-1.0156	9	0.16896	T	0.51	.	3.8164	0.08817	0.4537:0.0:0.5463:0.0	.	164	Q8N823	ZN611_HUMAN	V	164;164;95;164	ENSP00000437616:L164V;ENSP00000439211:L164V;ENSP00000443505:L95V;ENSP00000322427:L164V	ENSP00000322427:L164V	L	-	1	2	ZNF611	57901630	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-2.381000	0.01065	0.176000	0.19873	0.306000	0.20318	CTG	ZNF611	-	NULL	ENSG00000213020		0.373	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF611	HGNC	protein_coding	OTTHUMT00000337612.1	111	0.00	0	G	NM_030972		53209818	53209818	-1	no_errors	ENST00000319783	ensembl	human	known	69_37n	missense	61	19.74	15	SNP	0.000	C
