#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
ADAM29	11086	genome.wustl.edu	37	4	175896768	175896768	+	Missense_Mutation	SNP	C	C	T	rs544557652		TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr4:175896768C>T	ENST00000359240.3	+	5	762	c.92C>T	c.(91-93)cCg>cTg	p.P31L	ADAM29_ENST00000445694.1_Missense_Mutation_p.P31L|ADAM29_ENST00000514159.1_Missense_Mutation_p.P31L|ADAM29_ENST00000404450.4_Missense_Mutation_p.P31L|RP13-577H12.2_ENST00000507525.1_RNA	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	31			P -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P31L(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CACAGCCCTCCGGATGTGGTG	0.517																																					Ovarian(140;1727 1835 21805 25838 41440)	dbGAP											2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											82.0	81.0	81.0					4																	175896768		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.92C>T	4.37:g.175896768C>T	ENSP00000352177:p.Pro31Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.P31L	ENST00000359240.3	37	c.92	CCDS3823.1	4	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630296	0.14257	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000502940;ENST00000502305;ENST00000404450;ENST00000514159	T;T;T;D;T;T	0.81579	4.66;4.66;0.9;-1.51;4.66;4.66	4.36	1.46	0.22682	.	.	.	.	.	D	0.85124	0.5625	M	0.71206	2.165	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.71580	-0.4550	8	.	.	.	.	2.5819	0.04820	0.1935:0.5128:0.1878:0.1059	.	31	Q9UKF5	ADA29_HUMAN	L	31	ENSP00000352177:P31L;ENSP00000414544:P31L;ENSP00000427674:P31L;ENSP00000422537:P31L;ENSP00000384229:P31L;ENSP00000423517:P31L	.	P	+	2	0	ADAM29	176133343	0.003000	0.15002	0.098000	0.21074	0.004000	0.04260	0.096000	0.15147	0.156000	0.19299	0.637000	0.83480	CCG	ADAM29	-	pfam_Peptidase_M12B_N	ENSG00000168594		0.517	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ADAM29	HGNC	protein_coding		28	0.00	0	C			175896768	175896768	+1	no_errors	ENST00000359240	ensembl	human	known	69_37n	missense	14	50.00	14	SNP	0.075	T
AGBL4	84871	genome.wustl.edu	37	1	50489468	50489468	+	Start_Codon_Del	DEL	T	T	-			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr1:50489468delT	ENST00000371839.1	-	0	117				AGBL4_ENST00000371836.1_Start_Codon_Del|AGBL4_ENST00000371838.1_Start_Codon_Del	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4						C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		CCCTCCGCCATTTTTGTTGTC	0.667																																						dbGAP											0													32.0	39.0	37.0					1																	50489468		692	1591	2283	-	-	-	SO:0001582	initiator_codon_variant	0			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793		1.37:g.50489468delT		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT26|B4DG37	Frame_Shift_Del	DEL	pfam_Peptidase_M14,smart_Peptidase_M14	p.M1fs	ENST00000371839.1	37	c.1	CCDS44137.1	1																																																																																			AGBL4	-	NULL	ENSG00000186094		0.667	AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL4	HGNC	protein_coding	OTTHUMT00000021346.4	29	0.00	0	T	NM_032785		50489468	50489468	-1	no_errors	ENST00000371839	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	1.000	-
ARHGEF4	50649	genome.wustl.edu	37	2	131785560	131785560	+	Missense_Mutation	SNP	A	A	T			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr2:131785560A>T	ENST00000326016.5	+	5	989	c.470A>T	c.(469-471)gAa>gTa	p.E157V	ARHGEF4_ENST00000409303.1_Missense_Mutation_p.E157V|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.E86V|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.E157V|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.E157V	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	157					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TGCGCTGACGAAGTGGGGAGC	0.627																																						dbGAP											0													49.0	44.0	46.0					2																	131785560		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.470A>T	2.37:g.131785560A>T	ENSP00000316845:p.Glu157Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HDC6|Q9UPP0	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E157V	ENST00000326016.5	37	c.470	CCDS2165.1	2	.	.	.	.	.	.	.	.	.	.	A	15.46	2.840209	0.51057	.	.	ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771	T;T;T;T;T	0.73789	-0.46;-0.57;-0.57;-0.78;-0.49	4.94	4.94	0.65067	.	0.073987	0.51477	D	0.000082	T	0.79311	0.4424	L	0.40543	1.245	0.53005	D	0.999963	D;D;D	0.64830	0.99;0.994;0.99	P;D;P	0.65443	0.863;0.935;0.863	T	0.80926	-0.1164	10	0.62326	D	0.03	.	12.8319	0.57750	1.0:0.0:0.0:0.0	.	157;157;157	E9PEM0;Q9NR80-4;Q9NR80	.;.;ARHG4_HUMAN	V	157;157;157;157;86	ENSP00000316845:E157V;ENSP00000376680:E157V;ENSP00000432267:E157V;ENSP00000387285:E157V;ENSP00000348017:E86V	ENSP00000316845:E157V	E	+	2	0	ARHGEF4	131502030	1.000000	0.71417	0.108000	0.21378	0.089000	0.18198	6.806000	0.75195	1.993000	0.58246	0.459000	0.35465	GAA	ARHGEF4	-	NULL	ENSG00000136002		0.627	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ARHGEF4	HGNC	protein_coding	OTTHUMT00000254554.4	28	0.00	0	A			131785560	131785560	+1	no_errors	ENST00000326016	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	0.994	T
ANKRD30BL	554226	genome.wustl.edu	37	2	133015325	133015325	+	5'UTR	SNP	G	G	A	rs111401445		TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr2:133015325G>A	ENST00000470729.1	-	0	217				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GGGAAGGGAGGGGGCCTGCGG	0.697																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.-1208C>T	2.37:g.133015325G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZL7	RNA	SNP	-	NULL	ENST00000470729.1	37	NULL		2																																																																																			ANKRD30BL	-	-	ENSG00000163046		0.697	ANKRD30BL-002	KNOWN	basic	processed_transcript	ANKRD30BL	HGNC	protein_coding	OTTHUMT00000331354.1	30	0.00	0	G	NR_027019		133015325	133015325	-1	no_errors	ENST00000470729	ensembl	human	known	69_37n	rna	21	16.00	4	SNP	0.126	A
BRCA2	675	genome.wustl.edu	37	13	32911964	32911964	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr13:32911964G>C	ENST00000380152.3	+	11	3705	c.3472G>C	c.(3472-3474)Gaa>Caa	p.E1158Q	BRCA2_ENST00000544455.1_Missense_Mutation_p.E1158Q			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1158					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CACTTCTGAGGAATGCAGAGA	0.388			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	dbGAP	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0													96.0	94.0	95.0					13																	32911964		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3472G>C	13.37:g.32911964G>C	ENSP00000369497:p.Glu1158Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat	p.E1158Q	ENST00000380152.3	37	c.3472	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	G	6.495	0.459541	0.12342	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00856	5.61;5.61	5.75	2.92	0.33932	.	0.849185	0.10406	N	0.678556	T	0.01489	0.0048	M	0.73598	2.24	0.09310	N	1	P	0.45902	0.868	B	0.36666	0.23	T	0.49390	-0.8945	10	0.45353	T	0.12	.	6.9412	0.24494	0.2069:0.2246:0.5685:0.0	.	1158	P51587	BRCA2_HUMAN	Q	1158	ENSP00000369497:E1158Q;ENSP00000439902:E1158Q	ENSP00000369497:E1158Q	E	+	1	0	BRCA2	31809964	0.009000	0.17119	0.152000	0.22495	0.003000	0.03518	0.861000	0.27885	0.743000	0.32719	-0.136000	0.14681	GAA	BRCA2	-	pirsf_DNA_recomb/repair_BRCA2	ENSG00000139618		0.388	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	38	0.00	0	G	NM_000059		32911964	32911964	+1	no_errors	ENST00000380152	ensembl	human	known	69_37n	missense	25	30.56	11	SNP	0.001	C
BRCA2	675	genome.wustl.edu	37	13	32912065	32912065	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr13:32912065G>C	ENST00000380152.3	+	11	3806	c.3573G>C	c.(3571-3573)aaG>aaC	p.K1191N	BRCA2_ENST00000544455.1_Missense_Mutation_p.K1191N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1191					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTAAACGGAAGTTTGCTGGCC	0.403			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	dbGAP	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0													87.0	90.0	89.0					13																	32912065		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3573G>C	13.37:g.32912065G>C	ENSP00000369497:p.Lys1191Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_DNA_recomb/repair_BRCA2,pfscan_BRCA2_repeat	p.K1191N	ENST00000380152.3	37	c.3573	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	G	7.977	0.750354	0.15778	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00856	5.61;5.61	5.84	-1.45	0.08828	.	0.619485	0.16541	N	0.209960	T	0.01029	0.0034	M	0.68317	2.08	0.09310	N	1	B	0.22276	0.067	B	0.15052	0.012	T	0.45906	-0.9229	10	0.30078	T	0.28	.	2.2305	0.03995	0.1934:0.1061:0.386:0.3144	.	1191	P51587	BRCA2_HUMAN	N	1191	ENSP00000369497:K1191N;ENSP00000439902:K1191N	ENSP00000369497:K1191N	K	+	3	2	BRCA2	31810065	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.587000	0.05780	-0.219000	0.10003	0.655000	0.94253	AAG	BRCA2	-	pirsf_DNA_recomb/repair_BRCA2	ENSG00000139618		0.403	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	39	0.00	0	G	NM_000059		32912065	32912065	+1	no_errors	ENST00000380152	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	0.000	C
CCDC180	100499483	genome.wustl.edu	37	9	100087310	100087310	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr9:100087310G>A	ENST00000357054.1	+	28	2865	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	CCDC180_ENST00000529487.1_Missense_Mutation_p.E505K|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.E505K|CCDC180_ENST00000395220.1_Silent_p.S615S|CCDC180_ENST00000411667.2_Missense_Mutation_p.E502K			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	644						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GAAATCCTTCGAGACTCTGGC	0.567																																						dbGAP											0													40.0	40.0	40.0					9																	100087310		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1930G>A	9.37:g.100087310G>A	ENSP00000349562:p.Glu644Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.E505K	ENST00000357054.1	37	c.1513		9	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464100	0.43736	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.39	5.39	0.77823	.	0.195714	0.43579	D	0.000555	T	0.59046	0.2165	M	0.76002	2.32	0.39030	D	0.959922	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	P;D;D;D	0.87578	0.742;0.998;0.998;0.998	T	0.57505	-0.7800	10	0.30854	T	0.27	-26.9673	15.0183	0.71605	0.0:0.0:1.0:0.0	.	502;644;505;644	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	K	644;505;502;528;505	ENSP00000349562:E644K;ENSP00000364348:E505K;ENSP00000414000:E502K;ENSP00000434727:E505K	ENSP00000349562:E644K	E	+	1	0	C9orf174	99127131	1.000000	0.71417	0.505000	0.27651	0.142000	0.21351	5.303000	0.65738	2.710000	0.92621	0.655000	0.94253	GAG	C9orf174	-	NULL	ENSG00000197816		0.567	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		24	0.00	0	G	NM_020893		100087310	100087310	+1	no_errors	ENST00000375202	ensembl	human	known	69_37n	missense	9	59.09	13	SNP	0.861	A
CDH26	60437	genome.wustl.edu	37	20	58559737	58559737	+	Silent	SNP	A	A	G			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr20:58559737A>G	ENST00000244047.5	+	6	896	c.585A>G	c.(583-585)gaA>gaG	p.E195E	CDH26_ENST00000348616.4_Silent_p.E195E			Q8IXH8	CAD26_HUMAN	cadherin 26	195	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGGATGAAGAAAACACTCCAA	0.368																																						dbGAP											0													122.0	125.0	124.0					20																	58559737		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.585A>G	20.37:g.58559737A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E195	ENST00000244047.5	37	c.585		20																																																																																			CDH26	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000124215		0.368	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		57	0.00	0	A	NM_177980		58559737	58559737	+1	no_errors	ENST00000244047	ensembl	human	known	69_37n	silent	29	40.82	20	SNP	0.048	G
CEP120	153241	genome.wustl.edu	37	5	122682280	122682282	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	TCC	TCC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr5:122682280_122682282delTCC	ENST00000306467.5	-	20	3196_3198	c.2892_2894delGGA	c.(2890-2895)gaggat>gat	p.E964del	CEP120_ENST00000306481.6_In_Frame_Del_p.E938del|CEP120_ENST00000328236.5_In_Frame_Del_p.E964del			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	964					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TATTATTCGATCCTCGTGATTAT	0.399																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2892_2894delGGA	5.37:g.122682280_122682282delTCC	ENSP00000303058:p.Glu964del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	In_Frame_Del	DEL	pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E964in_frame_del	ENST00000306467.5	37	c.2894_2892	CCDS4134.2	5																																																																																			CEP120	-	NULL	ENSG00000168944		0.399	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP120	HGNC	protein_coding	OTTHUMT00000250899.2	70	0.00	0	TCC	NM_153223		122682280	122682282	-1	no_errors	ENST00000306467	ensembl	human	known	69_37n	in_frame_del	48	29.41	20	DEL	1.000:1.000:0.999	-
TLN1	7094	genome.wustl.edu	37	9	35733103	35733103	+	5'Flank	SNP	C	C	G			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr9:35733103C>G	ENST00000314888.9	-	0	0				CREB3_ENST00000486056.1_3'UTR|CREB3_ENST00000353704.2_Silent_p.T80T|TLN1_ENST00000540444.1_5'Flank	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGACCACACCTACTCCCTCC	0.537																																						dbGAP											0													122.0	118.0	119.0					9																	35733103		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874		9.37:g.35733103C>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.T80	ENST00000314888.9	37	c.240	CCDS35009.1	9																																																																																			CREB3	-	NULL	ENSG00000107175		0.537	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREB3	HGNC	protein_coding	OTTHUMT00000052353.2	63	0.00	0	C	NM_006289		35733103	35733103	+1	no_errors	ENST00000353704	ensembl	human	known	69_37n	silent	48	33.33	24	SNP	1.000	G
CRAT	1384	genome.wustl.edu	37	9	131859542	131859542	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr9:131859542C>T	ENST00000318080.2	-	12	1808	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	505					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GTCGGTGTAGCCTCGGTGGGC	0.607																																						dbGAP											0													67.0	41.0	50.0					9																	131859542		2197	4280	6477	-	-	-	SO:0001583	missense	0			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.1514G>A	9.37:g.131859542C>T	ENSP00000315013:p.Gly505Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T952|Q9BW16	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.G505D	ENST00000318080.2	37	c.1514	CCDS6919.1	9	.	.	.	.	.	.	.	.	.	.	C	2.349	-0.349321	0.05173	.	.	ENSG00000095321	ENST00000351352;ENST00000318080	D	0.88586	-2.4	5.69	1.75	0.24633	.	0.827941	0.10991	N	0.611591	T	0.72179	0.3428	N	0.02158	-0.66	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.54456	-0.8291	10	0.18276	T	0.48	-18.7736	11.8616	0.52469	0.0:0.3668:0.5089:0.1243	.	505	P43155	CACP_HUMAN	D	424;505	ENSP00000315013:G505D	ENSP00000315013:G505D	G	-	2	0	CRAT	130899363	0.428000	0.25522	0.924000	0.36721	0.066000	0.16364	1.464000	0.35288	0.059000	0.16252	-2.067000	0.00394	GGC	CRAT	-	pfam_Carn_acyl_trans	ENSG00000095321		0.607	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAT	HGNC	protein_coding	OTTHUMT00000253700.1	18	0.00	0	C			131859542	131859542	-1	no_errors	ENST00000318080	ensembl	human	known	69_37n	missense	4	55.56	5	SNP	0.969	T
DNAH9	1770	genome.wustl.edu	37	17	11772531	11772531	+	Silent	SNP	C	C	T	rs571803344		TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr17:11772531C>T	ENST00000262442.4	+	51	10082	c.10014C>T	c.(10012-10014)gcC>gcT	p.A3338A	DNAH9_ENST00000454412.2_Silent_p.A3338A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3338	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCAAGAAGCCGAAGTGACCG	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		21212	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													108.0	96.0	100.0					17																	11772531		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10014C>T	17.37:g.11772531C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.A3338	ENST00000262442.4	37	c.10014	CCDS11160.1	17																																																																																			DNAH9	-	NULL	ENSG00000007174		0.488	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	31	0.00	0	C	NM_001372		11772531	11772531	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	silent	18	30.77	8	SNP	0.404	T
FAHD2B	151313	genome.wustl.edu	37	2	97748462	97748462	+	IGR	SNP	C	C	T			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr2:97748462C>T	ENST00000414820.1	-	0	1388							Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B								hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						CAAAGCTTGCCATCAGTGCTA	0.557																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533		2.37:g.97748462C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DXH7|Q8NDK1	RNA	SNP	-	NULL	ENST00000414820.1	37	NULL	CCDS2030.1	2																																																																																			FAHD2B	-	-	ENSG00000144199		0.557	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAHD2B	HGNC	protein_coding	OTTHUMT00000339482.1	42	0.00	0	C	NM_199336		97748462	97748462	-1	no_errors	ENST00000443258	ensembl	human	known	69_37n	rna	15	31.82	7	SNP	0.126	T
FBXW7	55294	genome.wustl.edu	37	4	153251936	153251936	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr4:153251936C>T	ENST00000281708.4	-	7	2299	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K	FBXW7_ENST00000296555.5_Missense_Mutation_p.R239K|FBXW7_ENST00000393956.3_Missense_Mutation_p.R181K|FBXW7_ENST00000603548.1_Missense_Mutation_p.R357K|FBXW7_ENST00000263981.5_Missense_Mutation_p.R277K|FBXW7_ENST00000603841.1_Missense_Mutation_p.R357K	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	357					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCTGTGCTGTCTGATGTATGC	0.388			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	dbGAP		Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											356.0	305.0	322.0					4																	153251936		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1070G>A	4.37:g.153251936C>T	ENSP00000281708:p.Arg357Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R357K	ENST00000281708.4	37	c.1070	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518157	0.85495	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	6.07	6.07	0.98685	F-box domain, Skp2-like (1);	0.041245	0.85682	D	0.000000	T	0.53061	0.1773	M	0.64404	1.975	0.80722	D	1	B;B;B;B	0.33940	0.05;0.334;0.433;0.3	B;B;B;B	0.28991	0.026;0.081;0.058;0.097	T	0.50013	-0.8877	10	0.37606	T	0.19	-20.0104	20.6439	0.99570	0.0:1.0:0.0:0.0	.	181;357;239;277	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	K	357;239;277;181	ENSP00000281708:R357K;ENSP00000296555:R239K;ENSP00000263981:R277K;ENSP00000377528:R181K	ENSP00000263981:R277K	R	-	2	0	FBXW7	153471386	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	7.818000	0.86416	2.890000	0.99128	0.650000	0.86243	AGA	FBXW7	-	superfamily_F-box_dom_cyclin-like	ENSG00000109670		0.388	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	137	0.00	0	C			153251936	153251936	-1	no_errors	ENST00000281708	ensembl	human	known	69_37n	missense	67	35.58	37	SNP	1.000	T
FRG1B	284802	genome.wustl.edu	37	20	29614296	29614297	+	5'UTR	INS	-	-	AGA	rs376619640		TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr20:29614296_29614297insAGA	ENST00000278882.3	+	0	289_290				FRG1B_ENST00000358464.4_5'UTR|FRG1B_ENST00000439954.2_5'UTR			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						aagagaaaaagagaagatgaag	0.292																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-91->AGA	20.37:g.29614300_29614302dupAGA		Somatic		WXS	Illumina GAIIx	Phase_IV	C4AME5	RNA	INS	-	NULL	ENST00000278882.3	37	NULL		20																																																																																			FRG1B	-	-	ENSG00000149531		0.292	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	HGNC	protein_coding	OTTHUMT00000078494.2	8	0.00	0	-	NR_003579		29614296	29614297	+1	no_errors	ENST00000482423	ensembl	human	known	69_37n	rna	7	36.36	4	INS	0.998:0.997	AGA
GABRG2	2566	genome.wustl.edu	37	5	161576176	161576176	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr5:161576176G>T	ENST00000361925.4	+	8	1205	c.985G>T	c.(985-987)Gtc>Ttc	p.V329F	GABRG2_ENST00000414552.2_Missense_Mutation_p.V369F|GABRG2_ENST00000356592.3_Missense_Mutation_p.V329F|GABRG2_ENST00000393933.4_Missense_Mutation_p.V234F			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	329					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCTCCCCAAGGTCTCCTATGT	0.463																																						dbGAP											0													246.0	198.0	215.0					5																	161576176		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.985G>T	5.37:g.161576176G>T	ENSP00000354651:p.Val329Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.V329F	ENST00000361925.4	37	c.985	CCDS4358.1	5	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962354	0.92791	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	5.88	5.01	0.66863	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93828	0.8026	M	0.82823	2.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.94705	0.7887	10	0.87932	D	0	.	16.5246	0.84327	0.0:0.0:0.8683:0.1317	.	369;329;329	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	F	329;369;329;234	ENSP00000349000:V329F;ENSP00000410732:V369F;ENSP00000354651:V329F;ENSP00000377510:V234F	ENSP00000349000:V329F	V	+	1	0	GABRG2	161508754	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.751000	0.98889	1.476000	0.48215	0.650000	0.86243	GTC	GABRG2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel	ENSG00000113327		0.463	GABRG2-002	KNOWN	basic|CCDS	protein_coding	GABRG2	HGNC	protein_coding	OTTHUMT00000252706.1	127	0.00	0	G			161576176	161576176	+1	no_errors	ENST00000356592	ensembl	human	known	69_37n	missense	78	29.09	32	SNP	1.000	T
GOLGA6L2	283685	genome.wustl.edu	37	15	23689114	23689114	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr15:23689114C>T	ENST00000567107.1	-	5	453	c.401G>A	c.(400-402)gGc>gAc	p.G134D	GOLGA6L2_ENST00000345070.5_5'UTR|GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.G134D			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	134										breast(1)|endometrium(7)	8						TGATGGGGTGCCCAGGTTCCC	0.502																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.401G>A	15.37:g.23689114C>T	ENSP00000454407:p.Gly134Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L301	Missense_Mutation	SNP	NULL	p.G124D	ENST00000567107.1	37	c.371		15	.	.	.	.	.	.	.	.	.	.	c	6.056	0.378633	0.11466	.	.	ENSG00000174450	ENST00000312015	T	0.15603	2.41	.	.	.	.	.	.	.	.	T	0.12817	0.0311	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.34079	-0.9843	3	0.30078	T	0.28	.	.	.	.	.	134	Q8N9W4	GG6L2_HUMAN	D	134	ENSP00000307928:G134D	ENSP00000307928:G134D	G	-	2	0	GOLGA6L2	21240207	0.081000	0.21417	.	.	.	.	0.677000	0.25262	.	.	.	.	GGC	GOLGA6L2	-	NULL	ENSG00000174450		0.502	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	17	0.00	0	C	NM_182561		23689114	23689114	-1	no_errors	ENST00000566571	ensembl	human	known	69_37n	missense	5	44.44	4	SNP	0.000	T
HLA-DRB5	3127	genome.wustl.edu	37	6	32489744	32489744	+	Frame_Shift_Del	DEL	G	G	-	rs1059598	byFrequency	TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr6:32489744delG	ENST00000374975.3	-	2	370	c.308delC	c.(307-309)gcgfs	p.A103fs		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GGTGTCCACCGCGGCGCGCCT	0.662																																						dbGAP											0													33.0	29.0	30.0					6																	32489744		1960	3843	5803	-	-	-	SO:0001589	frameshift_variant	0				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.308delC	6.37:g.32489744delG	ENSP00000364114:p.Ala103fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.A103fs	ENST00000374975.3	37	c.308	CCDS4751.1	6																																																																																			HLA-DRB5	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N	ENSG00000198502		0.662	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	HGNC	protein_coding	OTTHUMT00000076022.2	9	0.00	0	G	NM_002125		32489744	32489744	-1	no_errors	ENST00000374975	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.000	-
INTS6	26512	genome.wustl.edu	37	13	52026554	52026554	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr13:52026554C>T	ENST00000311234.4	-	1	580	c.108G>A	c.(106-108)atG>atA	p.M36I	INTS6_ENST00000491723.1_5'UTR|INTS6_ENST00000425000.1_5'UTR|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6_ENST00000463928.1_Missense_Mutation_p.M36I|INTS6-AS1_ENST00000594604.1_RNA|INTS6_ENST00000442263.3_Missense_Mutation_p.M36I|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6_ENST00000398119.2_Missense_Mutation_p.M23I|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6_ENST00000420668.2_Missense_Mutation_p.M36I|INTS6-AS1_ENST00000594959.1_RNA|INTS6-AS1_ENST00000598905.1_RNA|INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000601034.1_RNA	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	36	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TCGGTACCTTCATGAAGGTCT	0.697																																						dbGAP											0													60.0	54.0	56.0					13																	52026554		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.108G>A	13.37:g.52026554C>T	ENSP00000310260:p.Met36Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	pfam_VWF_A,pfscan_VWF_A	p.M36I	ENST00000311234.4	37	c.108	CCDS9428.1	13	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355577	0.24598	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000420668;ENST00000485178;ENST00000483288;ENST00000442263	T;T;T;T;T;T	0.62639	2.79;0.01;2.79;0.01;0.01;2.79	2.67	1.77	0.24775	von Willebrand factor, type A (3);	0.096332	0.64402	D	0.000002	T	0.28599	0.0708	N	0.02158	-0.66	0.39388	D	0.966372	B;B	0.02656	0.0;0.0	B;B	0.12837	0.001;0.008	T	0.11060	-1.0603	10	0.11485	T	0.65	-6.8641	8.8545	0.35221	0.0:0.8787:0.0:0.1213	.	36;36	Q9UL03-2;Q9UL03	.;INT6_HUMAN	I	36;23;36;23;23;36	ENSP00000310260:M36I;ENSP00000381187:M23I;ENSP00000388585:M36I;ENSP00000419569:M23I;ENSP00000417707:M23I;ENSP00000411245:M36I	ENSP00000310260:M36I	M	-	3	0	INTS6	50924555	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.128000	0.57951	1.325000	0.45301	0.313000	0.20887	ATG	INTS6	-	pfam_VWF_A,pfscan_VWF_A	ENSG00000102786		0.697	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS6	HGNC	protein_coding	OTTHUMT00000045023.1	26	0.00	0	C	NM_012141		52026554	52026554	-1	no_errors	ENST00000311234	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	1.000	T
LINC00521	256369	genome.wustl.edu	37	14	94467722	94467722	+	RNA	SNP	C	C	T			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr14:94467722C>T	ENST00000444118.1	+	0	800					NR_024182.1		Q8NCU1	CN048_HUMAN	long intergenic non-protein coding RNA 521																		GAGCTGGGGGCGTGGGGCCCC	0.667																																						dbGAP											0																																										-	-	-			0			BI463117		14q32.12	2012-10-12	2011-11-29	2011-11-29	ENSG00000175699	ENSG00000175699		"""Long non-coding RNAs"""	19860	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 48"""	C14orf48			Standard	NR_024182		Approved		uc001ycg.1	Q8NCU1	OTTHUMG00000156974		14.37:g.94467722C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N7S1	RNA	SNP	-	NULL	ENST00000444118.1	37	NULL		14																																																																																			LINC00521	-	-	ENSG00000175699		0.667	LINC00521-003	KNOWN	basic	processed_transcript	LINC00521	HGNC	processed_transcript	OTTHUMT00000346916.1	11	0.00	0	C			94467722	94467722	+1	no_errors	ENST00000444118	ensembl	human	known	69_37n	rna	8	50.00	8	SNP	0.001	T
MAP2K4	6416	genome.wustl.edu	37	17	12016647	12016648	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr17:12016647_12016648delAA	ENST00000353533.5	+	7	846_847	c.783_784delAA	c.(781-786)acaagafs	p.R262fs	MAP2K4_ENST00000415385.3_Frame_Shift_Del_p.R273fs|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TTGCCAAGACAAGAGATGCTGG	0.465			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)																																								-	-	-	SO:0001589	frameshift_variant	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.783_784delAA	17.37:g.12016647_12016648delAA	ENSP00000262445:p.Arg262fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D274fs	ENST00000353533.5	37	c.816_817	CCDS11162.1	17																																																																																			MAP2K4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000065559		0.465	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	33	0.00	0	AA			12016647	12016648	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	frame_shift_del	8	50.00	9	DEL	0.986:1.000	-
OR5H1	26341	genome.wustl.edu	37	3	97851916	97851916	+	Silent	SNP	C	C	T			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr3:97851916C>T	ENST00000354565.2	+	1	375	c.375C>T	c.(373-375)gcC>gcT	p.A125A	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GCTATGTAGCCATATGCAAAC	0.393																																						dbGAP											0													100.0	101.0	101.0					3																	97851916		2201	4293	6494	-	-	-	SO:0001819	synonymous_variant	0			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.375C>T	3.37:g.97851916C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A125	ENST00000354565.2	37	c.375	CCDS33797.1	3																																																																																			OR5H1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000231192		0.393	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	HGNC	protein_coding	OTTHUMT00000359100.2	50	0.00	0	C	NM_001005338		97851916	97851916	+1	no_errors	ENST00000354565	ensembl	human	known	69_37n	silent	15	54.55	18	SNP	0.997	T
MUC4	4585	genome.wustl.edu	37	3	195510372	195510372	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr3:195510372G>C	ENST00000463781.3	-	2	8538	c.8079C>G	c.(8077-8079)gaC>gaG	p.D2693E	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D2693E|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGAGGAAGTGTCGGTGACAG	0.562																																						dbGAP											0													3.0	3.0	3.0					3																	195510372		528	1214	1742	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8079C>G	3.37:g.195510372G>C	ENSP00000417498:p.Asp2693Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.D2693E	ENST00000463781.3	37	c.8079	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	2.002	-0.429241	0.04701	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.34859	1.43;1.34	1.02	-1.38	0.09027	.	.	.	.	.	T	0.15435	0.0372	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.31223	-0.9951	6	.	.	.	.	5.5307	0.16983	0.0:0.0:0.6861:0.3139	.	.	.	.	E	2693	ENSP00000417498:D2693E;ENSP00000420243:D2693E	.	D	-	3	2	MUC4	196993471	0.000000	0.05858	0.010000	0.14722	0.060000	0.15804	-2.557000	0.00924	0.489000	0.27749	0.074000	0.15403	GAC	MUC4	-	NULL	ENSG00000145113		0.562	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	27	0.00	0	G	NM_018406		195510372	195510372	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	15	20.00	4	SNP	0.004	C
PHB2	11331	genome.wustl.edu	37	12	7074852	7074852	+	Missense_Mutation	SNP	T	T	G			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr12:7074852T>G	ENST00000535923.1	-	10	1177	c.896A>C	c.(895-897)aAa>aCa	p.K299T	PHB2_ENST00000399433.2_Missense_Mutation_p.K299T|PHB2_ENST00000546111.1_3'UTR|MIR200C_ENST00000384980.1_RNA|SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000544134.1_5'Flank|MIR141_ENST00000384975.1_RNA|PHB2_ENST00000542912.1_3'UTR|PHB2_ENST00000440277.1_Missense_Mutation_p.K261T|U47924.27_ENST00000537269.1_lincRNA|U47924.29_ENST00000606539.1_RNA	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						CTAGGCTCATTTCTTACCCTT	0.507											OREG0021644	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													60.0	59.0	59.0					12																	7074852		1901	4121	6022	-	-	-	SO:0001583	missense	0			AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.896A>C	12.37:g.7074852T>G	ENSP00000441875:p.Lys299Thr	Somatic	638	WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Prohibitin	p.K299T	ENST00000535923.1	37	c.896	CCDS53741.1	12	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993695	0.54041	.	.	ENSG00000215021	ENST00000535923;ENST00000399433;ENST00000440277	.	.	.	5.06	5.06	0.68205	.	0.395773	0.18689	U	0.133902	T	0.45196	0.1330	M	0.65975	2.015	0.31133	N	0.707548	P	0.35700	0.516	B	0.32289	0.143	T	0.59815	-0.7383	9	0.87932	D	0	.	11.1311	0.48347	0.0:0.0:0.0:1.0	.	299	Q99623	PHB2_HUMAN	T	299;299;261	.	ENSP00000382362:K299T	K	-	2	0	PHB2	6945113	0.993000	0.37304	0.988000	0.46212	0.878000	0.50629	2.375000	0.44283	2.118000	0.64928	0.533000	0.62120	AAA	PHB2	-	NULL	ENSG00000215021		0.507	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHB2	HGNC	protein_coding	OTTHUMT00000400040.3	55	0.00	0	T	NM_007273		7074852	7074852	-1	no_errors	ENST00000399433	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	0.982	G
PIK3CA	5290	genome.wustl.edu	37	3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	rs121913286		TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr3:178936094C>A	ENST00000263967.3	+	10	1793	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.Q546K(89)|p.Q546E(12)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	101	Substitution - Missense(101)	large_intestine(55)|breast(17)|endometrium(15)|central_nervous_system(3)|lung(3)|ovary(3)|skin(2)|cervix(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)											61.0	61.0	61.0					3																	178936094		1814	4072	5886	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1636C>A	3.37:g.178936094C>A	ENSP00000263967:p.Gln546Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.Q546K	ENST00000263967.3	37	c.1636	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838482	0.91117	.	.	ENSG00000121879	ENST00000263967	T	0.62232	0.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.64404	1.975	0.80722	D	1	D	0.58970	0.984	P	0.58660	0.843	T	0.73833	-0.3858	10	0.46703	T	0.11	-14.2064	20.0024	0.97423	0.0:1.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	K	546	ENSP00000263967:Q546K	ENSP00000263967:Q546K	Q	+	1	0	PIK3CA	180418788	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.487000	0.81328	2.722000	0.93159	0.467000	0.42956	CAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.358	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	63	0.00	0	C			178936094	178936094	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	25	37.50	15	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952018	178952018	+	Missense_Mutation	SNP	A	A	G	rs397517202		TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr3:178952018A>G	ENST00000263967.3	+	21	3230	c.3073A>G	c.(3073-3075)Acc>Gcc	p.T1025A	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1025	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		T -> A (in MCAP). {ECO:0000269|PubMed:22729224}.|T -> N (found in a glioblastoma multiforme sample; unknown pathological significance). {ECO:0000269|PubMed:15924253}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.T1025A(19)|p.T1025?(13)|p.T1025S(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CATTCGAAAGACCCTAGCCTT	0.393		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	34	Substitution - Missense(34)	breast(14)|endometrium(11)|large_intestine(4)|thyroid(2)|stomach(1)|lung(1)|pituitary(1)											98.0	87.0	90.0					3																	178952018		1877	4121	5998	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3073A>G	3.37:g.178952018A>G	ENSP00000263967:p.Thr1025Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.T1025A	ENST00000263967.3	37	c.3073	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	19.58	3.853391	0.71719	.	.	ENSG00000121879	ENST00000263967	T	0.80738	-1.41	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	L	0.33093	0.98	0.80722	D	1	P	0.45044	0.849	B	0.35655	0.207	T	0.70040	-0.4981	10	0.02654	T	1	-12.0878	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1025	P42336	PK3CA_HUMAN	A	1025	ENSP00000263967:T1025A	ENSP00000263967:T1025A	T	+	1	0	PIK3CA	180434712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	ACC	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	43	0.00	0	A			178952018	178952018	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	26	36.59	15	SNP	1.000	G
PRKACG	5568	genome.wustl.edu	37	9	71628862	71628862	+	Silent	SNP	C	C	A			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr9:71628862C>A	ENST00000377276.2	-	1	177	c.147G>T	c.(145-147)acG>acT	p.T49T		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	49	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCATGCCCAGCGTCCTGAGCC	0.587																																					Esophageal Squamous(110;2236 2623 32146)	dbGAP											0													98.0	92.0	94.0					9																	71628862		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.147G>T	9.37:g.71628862C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60850|Q5VZ02|Q86YI1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T49	ENST00000377276.2	37	c.147	CCDS6625.1	9																																																																																			PRKACG	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000165059		0.587	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACG	HGNC	protein_coding	OTTHUMT00000052559.1	57	0.00	0	C			71628862	71628862	-1	no_errors	ENST00000377276	ensembl	human	known	69_37n	silent	36	29.41	15	SNP	0.984	A
PTGER4	5734	genome.wustl.edu	37	5	40692393	40692393	+	Silent	SNP	C	C	T			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr5:40692393C>T	ENST00000302472.3	+	3	2404	c.1380C>T	c.(1378-1380)agC>agT	p.S460S		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	460					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)	p.S460R(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	CTGGTGGGAGCGGCAGGGCTG	0.512																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											32.0	33.0	32.0					5																	40692393		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.1380C>T	5.37:g.40692393C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ87	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.S460	ENST00000302472.3	37	c.1380	CCDS3930.1	5																																																																																			PTGER4	-	NULL	ENSG00000171522		0.512	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	21	0.00	0	C	NM_000958		40692393	40692393	+1	no_errors	ENST00000302472	ensembl	human	known	69_37n	silent	11	47.62	10	SNP	0.000	T
RASGRF2	5924	genome.wustl.edu	37	5	80338748	80338748	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr5:80338748G>A	ENST00000265080.4	+	2	408	c.341G>A	c.(340-342)cGc>cAc	p.R114H		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	114	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.		R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R114H(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTGGAGCTGCGCTGTGAGGAG	0.448																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											103.0	92.0	96.0					5																	80338748		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.341G>A	5.37:g.80338748G>A	ENSP00000265080:p.Arg114His	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EG89|Q9UK56	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R114H	ENST00000265080.4	37	c.341	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037333	0.93630	.	.	ENSG00000113319	ENST00000265080	T	0.13089	2.62	5.11	5.11	0.69529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.39733	0.1089	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.29427	-1.0012	10	0.87932	D	0	.	17.3258	0.87246	0.0:0.0:1.0:0.0	.	114	O14827	RGRF2_HUMAN	H	114	ENSP00000265080:R114H	ENSP00000265080:R114H	R	+	2	0	RASGRF2	80374504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.011000	0.93618	2.379000	0.81126	0.655000	0.94253	CGC	RASGRF2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000113319		0.448	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	80	0.00	0	G	NM_006909		80338748	80338748	+1	no_errors	ENST00000265080	ensembl	human	known	69_37n	missense	39	36.07	22	SNP	1.000	A
RASIP1	54922	genome.wustl.edu	37	19	49227977	49227977	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr19:49227977G>A	ENST00000222145.4	-	9	2572	c.2368C>T	c.(2368-2370)Cga>Tga	p.R790*		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	790	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CCTTCACCTCGTTCCATCAGC	0.557																																						dbGAP											0													99.0	98.0	98.0					19																	49227977		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2368C>T	19.37:g.49227977G>A	ENSP00000222145:p.Arg790*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6U676	Nonsense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc	p.R790*	ENST00000222145.4	37	c.2368	CCDS12731.1	19	.	.	.	.	.	.	.	.	.	.	G	41	8.684759	0.98914	.	.	ENSG00000105538	ENST00000222145	.	.	.	5.13	2.72	0.32119	.	0.218087	0.35525	N	0.003146	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6434	0.45606	0.0:0.0:0.4902:0.5098	.	.	.	.	X	790	.	ENSP00000222145:R790X	R	-	1	2	RASIP1	53919789	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.160000	0.42348	1.310000	0.45006	-0.175000	0.13238	CGA	RASIP1	-	pfam_Dil_domain,pfscan_Dilute	ENSG00000105538		0.557	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASIP1	HGNC	protein_coding	OTTHUMT00000466185.1	41	0.00	0	G	NM_017805		49227977	49227977	-1	no_errors	ENST00000222145	ensembl	human	known	69_37n	nonsense	13	46.15	12	SNP	1.000	A
SGSM2	9905	genome.wustl.edu	37	17	2265513	2265513	+	Missense_Mutation	SNP	T	T	C			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr17:2265513T>C	ENST00000426855.2	+	4	582	c.407T>C	c.(406-408)cTc>cCc	p.L136P	SGSM2_ENST00000574563.1_Missense_Mutation_p.L136P|SGSM2_ENST00000268989.3_Missense_Mutation_p.L136P	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	136	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CGCACGGCGCTCATCGAGAAA	0.647																																						dbGAP											0													89.0	90.0	90.0					17																	2265513		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.407T>C	17.37:g.2265513T>C	ENSP00000415107:p.Leu136Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.L136P	ENST00000426855.2	37	c.407	CCDS45570.1	17	.	.	.	.	.	.	.	.	.	.	T	12.92	2.083550	0.36758	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.65916	-0.18;-0.18	4.67	4.67	0.58626	RUN (3);	0.000000	0.85682	D	0.000000	T	0.80385	0.4613	M	0.86028	2.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.993	D;D;P	0.97110	0.988;1.0;0.858	D	0.84031	0.0359	10	0.87932	D	0	-3.9152	13.5997	0.62011	0.0:0.0:0.0:1.0	.	136;136;136	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	P	136	ENSP00000268989:L136P;ENSP00000415107:L136P	ENSP00000268989:L136P	L	+	2	0	SGSM2	2212263	1.000000	0.71417	0.999000	0.59377	0.018000	0.09664	7.983000	0.88140	1.872000	0.54250	0.172000	0.16884	CTC	SGSM2	-	pfam_Run,smart_Run,pfscan_Run	ENSG00000141258		0.647	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSM2	HGNC	protein_coding	OTTHUMT00000438186.1	28	0.00	0	T	NM_014853		2265513	2265513	+1	no_errors	ENST00000268989	ensembl	human	known	69_37n	missense	8	50.00	8	SNP	1.000	C
SNED1	25992	genome.wustl.edu	37	2	241989250	241989250	+	Silent	SNP	C	C	T			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr2:241989250C>T	ENST00000310397.8	+	12	1635	c.1635C>T	c.(1633-1635)tgC>tgT	p.C545C	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000342631.6_Silent_p.C545C|SNED1_ENST00000405547.3_Silent_p.C545C|SNED1_ENST00000401884.1_Silent_p.C545C	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	545	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CATCACCCTGCGACTCGGACC	0.687																																						dbGAP											0													46.0	54.0	51.0					2																	241989250		2154	4248	6402	-	-	-	SO:0001819	synonymous_variant	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1635C>T	2.37:g.241989250C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Nonsense_Mutation	SNP	pfam_EGF-like_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	p.R242*	ENST00000310397.8	37	c.724	CCDS46562.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.77|10.77	1.444317|1.444317	0.25987|0.25987	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000431690|ENST00000401644	.|.	.|.	.|.	5.2|5.2	-2.11|-2.11	0.07187|0.07187	.|.	.|.	.|.	.|.	.|.	T|.	0.63212|.	0.2492|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.60934|.	-0.7164|.	4|.	.|.	.|.	.|.	.|.	12.9028|12.9028	0.58135|0.58135	0.0:0.3022:0.0:0.6978|0.0:0.3022:0.0:0.6978	.|.	.|.	.|.	.|.	V|X	203|242	.|.	.|.	A|R	+|+	2|1	0|2	SNED1|SNED1	241637923|241637923	0.059000|0.059000	0.20769|0.20769	0.992000|0.992000	0.48379|0.48379	0.995000|0.995000	0.86356|0.86356	-1.004000|-1.004000	0.03678|0.03678	-0.328000|-0.328000	0.08539|0.08539	-0.140000|-0.140000	0.14226|0.14226	GCG|CGA	SNED1	-	pfam_EGF-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000162804		0.687	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	55	0.00	0	C	XM_059482		241989250	241989250	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000401644	ensembl	human	novel	69_37n	nonsense	26	13.33	4	SNP	0.960	T
STX6	10228	genome.wustl.edu	37	1	180971828	180971828	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr1:180971828C>T	ENST00000258301.5	-	3	451	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	STX6_ENST00000542060.1_Intron	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6	72					endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						GGATTTGCTTCAACTATGCGT	0.353																																						dbGAP											0													141.0	134.0	137.0					1																	180971828		2201	4299	6500	-	-	-	SO:0001583	missense	0			AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.214G>A	1.37:g.180971828C>T	ENSP00000258301:p.Glu72Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R652|B4DR17|Q5VY08|Q6FH83	Missense_Mutation	SNP	pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.E72K	ENST00000258301.5	37	c.214	CCDS1341.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.377868	0.95945	.	.	ENSG00000135823	ENST00000258301	.	.	.	5.58	5.58	0.84498	.	0.969977	0.08559	N	0.927736	T	0.81823	0.4904	M	0.84219	2.685	0.27445	N	0.953615	.	.	.	.	.	.	T	0.81510	-0.0900	6	0.87932	D	0	-0.8479	19.185	0.93639	0.0:1.0:0.0:0.0	.	.	.	.	K	72	.	ENSP00000258301:E72K	E	-	1	0	STX6	179238451	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.966000	0.76073	2.612000	0.88384	0.655000	0.94253	GAA	STX6	-	pfam_Syntaxin-6_N,superfamily_t-SNARE	ENSG00000135823		0.353	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX6	HGNC	protein_coding	OTTHUMT00000085143.1	76	0.00	0	C	NM_005819		180971828	180971828	-1	no_errors	ENST00000258301	ensembl	human	known	69_37n	missense	56	30.86	25	SNP	1.000	T
TAOK1	57551	genome.wustl.edu	37	17	27804712	27804712	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr17:27804712G>T	ENST00000261716.3	+	5	859	c.340G>T	c.(340-342)Gat>Tat	p.D114Y	TAOK1_ENST00000536202.1_Missense_Mutation_p.D114Y	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ATCTGCTTCGGATTTACTAGA	0.204																																						dbGAP											0													25.0	26.0	25.0					17																	27804712		2173	4224	6397	-	-	-	SO:0001583	missense	0			AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.340G>T	17.37:g.27804712G>T	ENSP00000261716:p.Asp114Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D114Y	ENST00000261716.3	37	c.340	CCDS32601.1	17	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909224	0.72868	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	T;T	0.68331	-0.32;1.59	4.91	4.91	0.64330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.047167	0.85682	D	0.000000	T	0.78534	0.4298	M	0.64080	1.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.80469	-0.1369	10	0.87932	D	0	.	12.8588	0.57901	0.0797:0.0:0.9203:0.0	.	114;114	B7ZLV6;Q7L7X3	.;TAOK1_HUMAN	Y	114	ENSP00000261716:D114Y;ENSP00000438819:D114Y	ENSP00000261716:D114Y	D	+	1	0	TAOK1	24828838	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.934000	0.87649	2.426000	0.82243	0.591000	0.81541	GAT	TAOK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000160551		0.204	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	HGNC	protein_coding	OTTHUMT00000447790.1	39	0.00	0	G	NM_020791		27804712	27804712	+1	no_errors	ENST00000261716	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	T
TNRC6B	23112	genome.wustl.edu	37	22	40661715	40661715	+	Missense_Mutation	SNP	A	A	G			TCGA-EW-A1PE-01A-11D-A142-09	TCGA-EW-A1PE-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	54377bac-8f52-4116-b7e5-b71a8a721ac4	e18ccc97-6ed5-48fb-85ce-6a9484ce18bd	g.chr22:40661715A>G	ENST00000454349.2	+	5	1692	c.1481A>G	c.(1480-1482)aAc>aGc	p.N494S	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.N494S|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	494	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TCTAATGACAACAAATGGGGT	0.473																																						dbGAP											0													41.0	40.0	41.0					22																	40661715		1843	4088	5931	-	-	-	SO:0001583	missense	0			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.1481A>G	22.37:g.40661715A>G	ENSP00000401946:p.Asn494Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.N494S	ENST00000454349.2	37	c.1481	CCDS54533.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.037|0.037	-1.300787|-1.300787	0.01364|0.01364	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T|.	0.46451|.	0.87;0.87|.	5.96|5.96	1.55|1.55	0.23275|0.23275	.|.	0.352028|.	0.32518|.	N|.	0.005988|.	T|T	0.18593|0.18593	0.0446|0.0446	N|N	0.14661|0.14661	0.345|0.345	0.24619|0.24619	N|N	0.993681|0.993681	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.0;0.001|.	T|T	0.22871|0.22871	-1.0204|-1.0204	10|5	0.06757|.	T|.	0.87|.	-3.5758|-3.5758	4.1095|4.1095	0.10052|0.10052	0.4577:0.0:0.3812:0.1611|0.4577:0.0:0.3812:0.1611	.|.	494;494;494|.	Q9UPQ9;A8MYY3;Q9UPQ9-1|.	TNR6B_HUMAN;.;.|.	S|A	494|237	ENSP00000401946:N494S;ENSP00000338371:N494S|.	ENSP00000338371:N494S|.	N|T	+|+	2|1	0|0	TNRC6B|TNRC6B	38991661|38991661	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.505000|0.505000	0.22642|0.22642	0.517000|0.517000	0.28361|0.28361	0.528000|0.528000	0.53228|0.53228	AAC|ACA	TNRC6B	-	NULL	ENSG00000100354		0.473	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		31	0.00	0	A			40661715	40661715	+1	no_errors	ENST00000454349	ensembl	human	known	69_37n	missense	13	43.48	10	SNP	1.000	G
