#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
CACNA1A	773	genome.wustl.edu	37	19	13427968	13427968	+	Missense_Mutation	SNP	T	T	C			TCGA-EW-A1P3-01A-11D-A142-09	TCGA-EW-A1P3-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e783933d-1c24-4cd5-82b7-0d680f9c3c22	dafdbf8a-faaa-47a5-a9d3-9cabf520323e	g.chr19:13427968T>C	ENST00000360228.5	-	11	1512	c.1513A>G	c.(1513-1515)Att>Gtt	p.I505V	CACNA1A_ENST00000573710.2_Missense_Mutation_p.I506V	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	506					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TAGTGAACAATAGCAACACAC	0.542																																						dbGAP											0													74.0	78.0	77.0					19																	13427968		2028	4179	6207	-	-	-	SO:0001583	missense	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1513A>G	19.37:g.13427968T>C	ENSP00000353362:p.Ile505Val	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.I505V	ENST00000360228.5	37	c.1513	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	T	14.55	2.569763	0.45798	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.97279	-4.32	5.88	4.86	0.63082	.	0.219321	0.39210	N	0.001439	D	0.91456	0.7303	N	0.11427	0.14	0.28939	N	0.891083	B;B;B	0.29136	0.0;0.234;0.002	B;B;B	0.32289	0.001;0.143;0.001	D	0.85871	0.1416	10	0.27082	T	0.32	.	10.5135	0.44876	0.0:0.0765:0.0:0.9235	.	506;506;505	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	V	505;506;506;506	ENSP00000353362:I505V	ENSP00000317661:I506V	I	-	1	0	CACNA1A	13288968	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	3.964000	0.56780	2.235000	0.73313	0.533000	0.62120	ATT	CACNA1A	-	NULL	ENSG00000141837		0.542	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	34	0.00	0	T	NM_000068		13427968	13427968	-1	no_errors	ENST00000360228	ensembl	human	known	69_37n	missense	29	21.62	8	SNP	0.996	C
CASP8	841	genome.wustl.edu	37	2	202131411	202131411	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EW-A1P3-01A-11D-A142-09	TCGA-EW-A1P3-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e783933d-1c24-4cd5-82b7-0d680f9c3c22	dafdbf8a-faaa-47a5-a9d3-9cabf520323e	g.chr2:202131411C>T	ENST00000432109.2	+	3	391	c.202C>T	c.(202-204)Cga>Tga	p.R68*	CASP8_ENST00000392258.3_Nonsense_Mutation_p.R68*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.R68*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.R68*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.R68*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.R127*|CASP8_ENST00000392259.2_Nonsense_Mutation_p.R68*|CASP8_ENST00000392266.3_Nonsense_Mutation_p.R68*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	68	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.R127*(1)|p.R68*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTGCTCTTCCGAATTAATAG	0.453										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	dbGAP											2	Substitution - Nonsense(2)	ovary(2)											67.0	68.0	68.0					2																	202131411		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.202C>T	2.37:g.202131411C>T	ENSP00000412523:p.Arg68*	Somatic		WXS	Illumina GAIIx	Phase_IV	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.R127*	ENST00000432109.2	37	c.379	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606738	0.87157	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	.	.	.	5.58	4.69	0.59074	.	0.756955	0.12477	N	0.465525	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	12.7476	0.57289	0.2986:0.7014:0.0:0.0	.	.	.	.	X	68;68;68;68;68;68;68;68;68;127;68;68;68;68	.	ENSP00000264274:R68X	R	+	1	2	CASP8	201839656	0.483000	0.25956	0.726000	0.30738	0.117000	0.20001	1.715000	0.37971	1.324000	0.45282	-0.314000	0.08810	CGA	CASP8	-	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED	ENSG00000064012		0.453	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	36	0.00	0	C	NM_001228		202131411	202131411	+1	no_errors	ENST00000358485	ensembl	human	known	69_37n	nonsense	33	13.16	5	SNP	0.742	T
CDYL2	124359	genome.wustl.edu	37	16	80646646	80646646	+	Silent	SNP	C	C	A			TCGA-EW-A1P3-01A-11D-A142-09	TCGA-EW-A1P3-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e783933d-1c24-4cd5-82b7-0d680f9c3c22	dafdbf8a-faaa-47a5-a9d3-9cabf520323e	g.chr16:80646646C>A	ENST00000570137.2	-	5	1250	c.1095G>T	c.(1093-1095)ctG>ctT	p.L365L	CDYL2_ENST00000566173.1_Silent_p.L366L|CDYL2_ENST00000563890.1_Silent_p.L366L|CDYL2_ENST00000562812.1_Silent_p.L366L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	365						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CACAGAGGGGCAGGATGGAGG	0.612																																						dbGAP											0													80.0	78.0	79.0					16																	80646646		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.1095G>T	16.37:g.80646646C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5I8	Silent	SNP	pfam_Crotonase_core,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.L365	ENST00000570137.2	37	c.1095	CCDS32493.1	16																																																																																			CDYL2	-	pfam_Crotonase_core	ENSG00000166446		0.612	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDYL2	HGNC	protein_coding	OTTHUMT00000434727.2	45	0.00	0	C	NM_152342		80646646	80646646	-1	no_errors	ENST00000299564	ensembl	human	known	69_37n	silent	13	38.10	8	SNP	1.000	A
CYFIP1	23191	genome.wustl.edu	37	15	22928474	22928474	+	Silent	SNP	T	T	A			TCGA-EW-A1P3-01A-11D-A142-09	TCGA-EW-A1P3-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e783933d-1c24-4cd5-82b7-0d680f9c3c22	dafdbf8a-faaa-47a5-a9d3-9cabf520323e	g.chr15:22928474T>A	ENST00000313077.7	+	5	476	c.351T>A	c.(349-351)ccT>ccA	p.P117P	CYFIP1_ENST00000560848.1_Silent_p.P117P	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TTCTGGAGCCTGAGGTCACAA	0.478																																						dbGAP											0													120.0	131.0	127.0					15																	22928474		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.351T>A	15.37:g.22928474T>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.P117	ENST00000313077.7	37	c.351	CCDS10009.1	15																																																																																			CYFIP1	-	pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000068793		0.478	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	43	0.00	0	T	NM_014608		22928474	22928474	+1	no_errors	ENST00000313077	ensembl	human	known	69_37n	silent	36	18.18	8	SNP	0.920	A
CYTIP	9595	genome.wustl.edu	37	2	158272428	158272428	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1P3-01A-11D-A142-09	TCGA-EW-A1P3-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e783933d-1c24-4cd5-82b7-0d680f9c3c22	dafdbf8a-faaa-47a5-a9d3-9cabf520323e	g.chr2:158272428C>T	ENST00000264192.3	-	8	962	c.841G>A	c.(841-843)Gat>Aat	p.D281N	CYTIP_ENST00000540637.1_Missense_Mutation_p.D175N	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	281	Ser-rich.				regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CACTCATCATCTGTACTCGTC	0.547																																						dbGAP											0													100.0	94.0	96.0					2																	158272428		2203	4300	6503	-	-	-	SO:0001583	missense	0			L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.841G>A	2.37:g.158272428C>T	ENSP00000264192:p.Asp281Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D281N	ENST00000264192.3	37	c.841	CCDS2204.1	2	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879914	0.72294	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.44881	2.21;0.91	6.06	6.06	0.98353	.	0.532850	0.20648	N	0.088274	T	0.44787	0.1310	M	0.67953	2.075	0.40400	D	0.979637	P	0.36392	0.551	B	0.31614	0.133	T	0.40156	-0.9578	10	0.35671	T	0.21	-9.0869	20.2159	0.98296	0.0:1.0:0.0:0.0	.	281	O60759	CYTIP_HUMAN	N	281;175	ENSP00000264192:D281N;ENSP00000440801:D175N	ENSP00000264192:D281N	D	-	1	0	CYTIP	157980674	0.999000	0.42202	0.991000	0.47740	0.898000	0.52572	4.714000	0.61902	2.882000	0.98803	0.655000	0.94253	GAT	CYTIP	-	NULL	ENSG00000115165		0.547	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTIP	HGNC	protein_coding	OTTHUMT00000254926.1	46	0.00	0	C	NM_004288		158272428	158272428	-1	no_errors	ENST00000264192	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	0.997	T
DST	667	genome.wustl.edu	37	6	56458463	56458464	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EW-A1P3-01A-11D-A142-09	TCGA-EW-A1P3-10A-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e783933d-1c24-4cd5-82b7-0d680f9c3c22	dafdbf8a-faaa-47a5-a9d3-9cabf520323e	g.chr6:56458463_56458464insA	ENST00000361203.3	-	44	12097_12098	c.12090_12091insT	c.(12088-12093)tctaagfs	p.K4031fs	DST_ENST00000421834.2_Frame_Shift_Ins_p.K1945fs|DST_ENST00000370769.4_Frame_Shift_Ins_p.K4033fs|DST_ENST00000370788.2_Frame_Shift_Ins_p.K1945fs|DST_ENST00000244364.6_Frame_Shift_Ins_p.K1619fs|DST_ENST00000446842.2_Frame_Shift_Ins_p.K3707fs|DST_ENST00000312431.6_Frame_Shift_Ins_p.K4031fs|DST_ENST00000370754.5_Frame_Shift_Ins_p.K4211fs			Q03001	DYST_HUMAN	dystonin	4031					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AACATTACCTTAGAGTAGAGAG	0.396																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12091dupT	6.37:g.56458464_56458464dupA	ENSP00000354508:p.Lys4031fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Ins	INS	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.K4210fs	ENST00000361203.3	37	c.12631_12630		6																																																																																			DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000151914		0.396	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	38	0.00	0	-	NM_001723		56458463	56458464	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	frame_shift_ins	21	41.67	15	INS	0.998:0.649	A
FBXL2	25827	genome.wustl.edu	37	3	33406169	33406169	+	Missense_Mutation	SNP	T	T	G			TCGA-EW-A1P3-01A-11D-A142-09	TCGA-EW-A1P3-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e783933d-1c24-4cd5-82b7-0d680f9c3c22	dafdbf8a-faaa-47a5-a9d3-9cabf520323e	g.chr3:33406169T>G	ENST00000484457.1	+	5	339	c.248T>G	c.(247-249)cTc>cGc	p.L83R	FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Missense_Mutation_p.L83R|FBXL2_ENST00000538892.1_Missense_Mutation_p.L83R|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000542085.1_5'UTR	NM_012157.3	NP_036289.3			F-box and leucine-rich repeat protein 2											endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						CTGAGGAAGCTCAGCTTGCGA	0.453																																						dbGAP											0													208.0	183.0	192.0					3																	33406169		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF174589	CCDS2658.1, CCDS54560.1	3p22.3	2011-06-09			ENSG00000153558	ENSG00000153558		"""F-boxes / Leucine-rich repeats"""	13598	protein-coding gene	gene with protein product		605652				10508920, 10531035	Standard	NM_012157		Approved	FBL2, FBL3	uc003cfp.3	Q9UKC9	OTTHUMG00000130745	ENST00000484457.1:c.248T>G	3.37:g.33406169T>G	ENSP00000417601:p.Leu83Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.L83R	ENST00000484457.1	37	c.248	CCDS2658.1	3	.	.	.	.	.	.	.	.	.	.	T	24.9	4.578556	0.86645	.	.	ENSG00000153558	ENST00000484457;ENST00000538892;ENST00000507198	T;T;T	0.74737	-0.87;0.34;0.34	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.91740	0.7388	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94976	0.8121	10	0.87932	D	0	.	15.1063	0.72324	0.0:0.0:0.0:1.0	.	83	Q9UKC9	FBXL2_HUMAN	R	83	ENSP00000417601:L83R;ENSP00000441228:L83R;ENSP00000426163:L83R	ENSP00000408895:L83R	L	+	2	0	FBXL2	33381173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.605000	0.82844	2.118000	0.64928	0.529000	0.55759	CTC	FBXL2	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000153558		0.453	FBXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL2	HGNC	protein_coding	OTTHUMT00000253245.2	78	0.00	0	T	NM_012157		33406169	33406169	+1	no_errors	ENST00000484457	ensembl	human	known	69_37n	missense	33	21.43	9	SNP	1.000	G
FMN2	56776	genome.wustl.edu	37	1	240371075	240371075	+	Missense_Mutation	SNP	C	C	T	rs71646825		TCGA-EW-A1P3-01A-11D-A142-09	TCGA-EW-A1P3-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e783933d-1c24-4cd5-82b7-0d680f9c3c22	dafdbf8a-faaa-47a5-a9d3-9cabf520323e	g.chr1:240371075C>T	ENST00000319653.9	+	5	3193	c.2963C>T	c.(2962-2964)cCt>cTt	p.P988L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	988	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)			GGCATACCCCCTCCTCCCCCA	0.711																																						dbGAP											0													13.0	15.0	15.0					1																	240371075		2181	4262	6443	-	-	-	SO:0001583	missense	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.2963C>T	1.37:g.240371075C>T	ENSP00000318884:p.Pro988Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.P988L	ENST00000319653.9	37	c.2963	CCDS31069.2	1	391	0.17902930402930403	114	0.23170731707317074	55	0.15193370165745856	93	0.16258741258741258	129	0.17018469656992086	C	8.181	0.793768	0.16327	.	.	ENSG00000155816	ENST00000319653	T	0.65549	-0.16	2.73	0.76	0.18442	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	.	.	.	.	T	0.00039	0.0001	M	0.90542	3.125	0.24734	P	0.99307642	B	0.12630	0.006	B	0.12156	0.007	T	0.08700	-1.0709	7	.	.	.	.	5.5141	0.16896	0.0:0.5739:0.1599:0.2661	.	988	Q9NZ56	FMN2_HUMAN	L	988	ENSP00000318884:P988L	.	P	+	2	0	FMN2	238437698	0.082000	0.21442	0.001000	0.08648	0.076000	0.17211	1.602000	0.36783	0.229000	0.21039	0.472000	0.43445	CCT	FMN2	-	pfam_Formin_homology_1,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000155816		0.711	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	12	0.00	0	C	XM_371352		240371075	240371075	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	0.466	T
GATA3	2625	genome.wustl.edu	37	10	8115725	8115728	+	Frame_Shift_Del	DEL	GAAG	GAAG	-			TCGA-EW-A1P3-01A-11D-A142-09	TCGA-EW-A1P3-10A-01D-A142-09	GAAG	GAAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e783933d-1c24-4cd5-82b7-0d680f9c3c22	dafdbf8a-faaa-47a5-a9d3-9cabf520323e	g.chr10:8115725_8115728delGAAG	ENST00000346208.3	+	6	1526_1529	c.1071_1074delGAAG	c.(1069-1074)aagaagfs	p.KK357fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Del_p.KK358fs			P23771	GATA3_HUMAN	GATA binding protein 3	357					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TGACTATGAAGAAGGAAGGCATCC	0.397			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1071_1074delGAAG	10.37:g.8115729_8115732delGAAG	ENSP00000341619:p.Lys357fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Del	DEL	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.E360fs	ENST00000346208.3	37	c.1074_1077	CCDS7083.1	10																																																																																			GATA3	-	smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.397	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	35	0.00	0	GAAG	NM_001002295		8115725	8115728	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_del	13	31.58	6	DEL	1.000:1.000:1.000:1.000	-
NPHP4	261734	genome.wustl.edu	37	1	5967185	5967185	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1P3-01A-11D-A142-09	TCGA-EW-A1P3-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e783933d-1c24-4cd5-82b7-0d680f9c3c22	dafdbf8a-faaa-47a5-a9d3-9cabf520323e	g.chr1:5967185G>A	ENST00000378156.4	-	13	1866	c.1601C>T	c.(1600-1602)cCg>cTg	p.P534L	NPHP4_ENST00000478423.2_Intron	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	534					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTGGGCCGGGGAGGCCTG	0.622																																						dbGAP											0													15.0	21.0	19.0					1																	5967185		2012	4153	6165	-	-	-	SO:0001583	missense	0			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1601C>T	1.37:g.5967185G>A	ENSP00000367398:p.Pro534Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IWC0	Missense_Mutation	SNP	NULL	p.P534L	ENST00000378156.4	37	c.1601	CCDS44052.1	1	.	.	.	.	.	.	.	.	.	.	G	7.100	0.573832	0.13623	.	.	ENSG00000131697	ENST00000378156	D	0.87256	-2.23	5.29	-9.35	0.00633	.	1.627650	0.03686	N	0.246369	T	0.70072	0.3182	N	0.16478	0.41	0.19775	N	0.999951	B	0.15473	0.013	B	0.08055	0.003	T	0.57505	-0.7800	10	0.41790	T	0.15	.	1.3069	0.02090	0.4511:0.1652:0.1853:0.1984	.	534	O75161	NPHP4_HUMAN	L	534	ENSP00000367398:P534L	ENSP00000367398:P534L	P	-	2	0	NPHP4	5889772	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.798000	0.01747	-2.025000	0.00935	-1.185000	0.01705	CCG	NPHP4	-	NULL	ENSG00000131697		0.622	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	23	0.00	0	G			5967185	5967185	-1	no_errors	ENST00000378156	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	0.000	A
PKD2L2	27039	genome.wustl.edu	37	5	137226171	137226171	+	Splice_Site	SNP	G	G	A			TCGA-EW-A1P3-01A-11D-A142-09	TCGA-EW-A1P3-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e783933d-1c24-4cd5-82b7-0d680f9c3c22	dafdbf8a-faaa-47a5-a9d3-9cabf520323e	g.chr5:137226171G>A	ENST00000508883.1	+	2	59	c.33G>A	c.(31-33)ggG>ggA	p.G11G	PKD2L2_ENST00000508638.1_Splice_Site_p.G11G|PKD2L2_ENST00000350250.4_Intron|RP11-381K20.2_ENST00000514616.1_RNA|PKD2L2_ENST00000290431.5_Splice_Site_p.G11G|PKD2L2_ENST00000502810.1_Splice_Site_p.G11G|RP11-381K20.2_ENST00000508281.2_RNA			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	11					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCTCACAGGGGCTTCGAAAC	0.313																																						dbGAP											0													78.0	78.0	78.0					5																	137226171		1808	4070	5878	-	-	-	SO:0001630	splice_region_variant	0			AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.32-1G>A	5.37:g.137226171G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Silent	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2	p.G11	ENST00000508883.1	37	c.33		5																																																																																			PKD2L2	-	NULL	ENSG00000078795		0.313	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	PKD2L2	HGNC	protein_coding	OTTHUMT00000372521.1	52	0.00	0	G	NM_014386	Silent	137226171	137226171	+1	no_errors	ENST00000508883	ensembl	human	known	69_37n	silent	50	27.54	19	SNP	0.132	A
SIGLEC8	27181	genome.wustl.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-EW-A1P3-01A-11D-A142-09	TCGA-EW-A1P3-10A-01D-A142-09	GCA	GCA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e783933d-1c24-4cd5-82b7-0d680f9c3c22	dafdbf8a-faaa-47a5-a9d3-9cabf520323e	g.chr19:51961617_51961619delGCA	ENST00000321424.3	-	1	89_91	c.23_25delTGC	c.(22-27)ctgccc>ccc	p.L8del	SIGLEC8_ENST00000340550.5_In_Frame_Del_p.L8del|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.L8del|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	8					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.23_25delTGC	19.37:g.51961626_51961628delGCA	ENSP00000321077:p.Leu8del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z728	In_Frame_Del	DEL	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L8in_frame_del	ENST00000321424.3	37	c.25_23	CCDS33086.1	19																																																																																			SIGLEC8	-	NULL	ENSG00000105366		0.596	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	HGNC	protein_coding	OTTHUMT00000463648.2	21	0.00	0	GCA	NM_014442		51961617	51961619	-1	no_errors	ENST00000321424	ensembl	human	known	69_37n	in_frame_del	25	10.34	3	DEL	0.633:0.759:0.808	-
SRPR	6734	genome.wustl.edu	37	11	126136761	126136761	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1P3-01A-11D-A142-09	TCGA-EW-A1P3-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e783933d-1c24-4cd5-82b7-0d680f9c3c22	dafdbf8a-faaa-47a5-a9d3-9cabf520323e	g.chr11:126136761G>A	ENST00000332118.6	-	5	737	c.583C>T	c.(583-585)Cca>Tca	p.P195S	SRPR_ENST00000532259.1_Missense_Mutation_p.P167S|SRPR_ENST00000530680.1_5'Flank|FOXRED1_ENST00000263578.5_5'Flank|FOXRED1_ENST00000442061.2_5'Flank|FOXRED1_ENST00000532125.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	195					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GGACCCACTGGAAGACCTGAC	0.502																																						dbGAP											0													99.0	102.0	101.0					11																	126136761		2201	4299	6500	-	-	-	SO:0001583	missense	0			BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.583C>T	11.37:g.126136761G>A	ENSP00000328023:p.Pro195Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase	p.P195S	ENST00000332118.6	37	c.583	CCDS31717.1	11	.	.	.	.	.	.	.	.	.	.	G	7.808	0.715078	0.15306	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.24	2.33	0.28932	Signal recognition particle receptor, alpha subunit, N-terminal (1);	0.602490	0.17523	N	0.171164	T	0.35624	0.0938	L	0.39020	1.185	0.33051	D	0.532681	B;B	0.17667	0.023;0.001	B;B	0.10450	0.005;0.001	T	0.35226	-0.9797	9	0.13470	T	0.59	0.5166	6.51	0.22216	0.2275:0.1306:0.642:0.0	.	167;195	E9PJS4;P08240	.;SRPR_HUMAN	S	195;167	.	ENSP00000328023:P195S	P	-	1	0	SRPR	125641971	0.003000	0.15002	0.536000	0.28039	0.624000	0.37722	0.043000	0.13971	0.202000	0.20498	0.655000	0.94253	CCA	SRPR	-	pfam_Sig_recog_particle_rcpt_asu_N	ENSG00000182934		0.502	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPR	HGNC	protein_coding	OTTHUMT00000386425.2	60	0.00	0	G	NM_003139		126136761	126136761	-1	no_errors	ENST00000332118	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	0.909	A
TBC1D19	55296	genome.wustl.edu	37	4	26622298	26622298	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1P3-01A-11D-A142-09	TCGA-EW-A1P3-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e783933d-1c24-4cd5-82b7-0d680f9c3c22	dafdbf8a-faaa-47a5-a9d3-9cabf520323e	g.chr4:26622298G>A	ENST00000264866.4	+	4	560	c.282G>A	c.(280-282)atG>atA	p.M94I	TBC1D19_ENST00000511789.1_Intron|TBC1D19_ENST00000515568.1_3'UTR	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	94							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TGGTATACATGAGGAAAGCAC	0.368																																						dbGAP											0													115.0	110.0	112.0					4																	26622298		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.282G>A	4.37:g.26622298G>A	ENSP00000264866:p.Met94Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6M0|Q9NUX1	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.M94I	ENST00000264866.4	37	c.282	CCDS3439.1	4	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519568	0.44866	.	.	ENSG00000109680	ENST00000512840;ENST00000264866;ENST00000513596	T;T	0.42513	0.97;1.57	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	L	0.43701	1.375	0.80722	D	1	B;B	0.17667	0.023;0.023	B;B	0.20184	0.028;0.028	T	0.10382	-1.0632	9	.	.	.	-17.8896	16.7879	0.85579	0.0:0.0:1.0:0.0	.	94;94	A8K0R6;Q8N5T2	.;TBC19_HUMAN	I	63;94;62	ENSP00000427033:M63I;ENSP00000264866:M94I	.	M	+	3	0	TBC1D19	26231396	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.106000	0.77039	2.689000	0.91719	0.591000	0.81541	ATG	TBC1D19	-	NULL	ENSG00000109680		0.368	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D19	HGNC	protein_coding	OTTHUMT00000215052.2	71	0.00	0	G	NM_018317		26622298	26622298	+1	no_errors	ENST00000264866	ensembl	human	known	69_37n	missense	60	22.08	17	SNP	1.000	A
VSTM2B	342865	genome.wustl.edu	37	19	30054758	30054758	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1P3-01A-11D-A142-09	TCGA-EW-A1P3-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e783933d-1c24-4cd5-82b7-0d680f9c3c22	dafdbf8a-faaa-47a5-a9d3-9cabf520323e	g.chr19:30054758G>A	ENST00000335523.7	+	5	860	c.775G>A	c.(775-777)Ggc>Agc	p.G259S		NM_001146339.1	NP_001139811.1	A6NLU5	VTM2B_HUMAN	V-set and transmembrane domain containing 2B	259						integral component of membrane (GO:0016021)				breast(2)	2						TGCAGGCACCGGCCGTAGCTA	0.562																																						dbGAP											0													185.0	148.0	159.0					19																	30054758		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46034.1	19q12	2013-01-11			ENSG00000187135	ENSG00000187135		"""Immunoglobulin superfamily / V-set domain containing"""	33595	protein-coding gene	gene with protein product							Standard	NM_001146339		Approved		uc010xrl.1	A6NLU5		ENST00000335523.7:c.775G>A	19.37:g.30054758G>A	ENSP00000335038:p.Gly259Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.G259S	ENST00000335523.7	37	c.775	CCDS46034.1	19	.	.	.	.	.	.	.	.	.	.	G	7.697	0.692265	0.15039	.	.	ENSG00000187135	ENST00000335523	T	0.11821	2.74	5.69	3.55	0.40652	.	0.793165	0.10523	N	0.664704	T	0.10380	0.0254	L	0.29908	0.895	0.40753	D	0.982932	P	0.47106	0.89	B	0.37650	0.255	T	0.14008	-1.0488	10	0.44086	T	0.13	.	9.7936	0.40722	0.0723:0.0:0.7873:0.1404	.	259	A6NLU5	VTM2B_HUMAN	S	259	ENSP00000335038:G259S	ENSP00000335038:G259S	G	+	1	0	VSTM2B	34746598	0.999000	0.42202	0.188000	0.23233	0.260000	0.26232	3.186000	0.50942	0.749000	0.32854	0.462000	0.41574	GGC	VSTM2B	-	NULL	ENSG00000187135		0.562	VSTM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM2B	HGNC	protein_coding	OTTHUMT00000458601.1	82	0.00	0	G	NM_001146339		30054758	30054758	+1	no_errors	ENST00000335523	ensembl	human	known	69_37n	missense	79	30.70	35	SNP	0.948	A
