#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
ACACA	31	genome.wustl.edu	37	17	35468534	35468534	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr17:35468534C>T	ENST00000394406.2	-	52	6576	c.6386G>A	c.(6385-6387)cGc>cAc	p.R2129H	ACACA_ENST00000360679.3_Missense_Mutation_p.R2071H|ACACA_ENST00000353139.5_Missense_Mutation_p.R2166H|ACACA_ENST00000361253.5_Missense_Mutation_p.R255H|ACACA_ENST00000335166.5_Missense_Mutation_p.R2051H	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2129	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.R2071H(1)|p.R2166H(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATCCTTTCTGCGGAATTTGAT	0.458																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	dbGAP											2	Substitution - Missense(2)	breast(2)											161.0	139.0	147.0					17																	35468534		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6386G>A	17.37:g.35468534C>T	ENSP00000377928:p.Arg2129His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.R2166H	ENST00000394406.2	37	c.6497	CCDS11317.1	17	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767415	0.90020	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	T;T;T;T;T	0.35605	1.3;1.3;1.3;1.3;1.3	5.67	5.67	0.87782	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	H	0.94582	3.555	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;P;D;D	0.73708	0.957;0.969;0.889;0.981;0.968	T	0.80346	-0.1421	10	0.87932	D	0	-9.5099	19.7848	0.96432	0.0:1.0:0.0:0.0	.	167;828;2166;2129;2071	B4DIG6;F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;.;ACACA_HUMAN;.	H	2166;2071;2129;2153;2051;828;255	ENSP00000344789:R2166H;ENSP00000353898:R2071H;ENSP00000377928:R2129H;ENSP00000335323:R2051H;ENSP00000354565:R255H	ENSP00000335323:R2051H	R	-	2	0	ACACA	32542647	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.673000	0.90976	0.655000	0.94253	CGC	ACACA	-	pfam_Carboxyl_trans,pfscan_COA_CT_C	ENSG00000132142		0.458	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	182	0.00	0	C	NM_198836		35468534	35468534	-1	no_errors	ENST00000353139	ensembl	human	known	69_37n	missense	176	18.52	40	SNP	1.000	T
ACLY	47	genome.wustl.edu	37	17	40025782	40025782	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr17:40025782G>A	ENST00000352035.2	-	26	3126	c.2996C>T	c.(2995-2997)cCt>cTt	p.P999L	ACLY_ENST00000393896.2_Missense_Mutation_p.P989L|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000353196.1_Missense_Mutation_p.P989L|ACLY_ENST00000590151.1_Missense_Mutation_p.P999L|ACLY_ENST00000537919.1_Missense_Mutation_p.P728L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	999					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)	p.P999L(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				AGGAGTGGCAGGGAAGTGCTG	0.458																																					Colon(64;807 1396 15971 30971)	dbGAP											1	Substitution - Missense(1)	breast(1)											175.0	156.0	163.0					17																	40025782		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.2996C>T	17.37:g.40025782G>A	ENSP00000253792:p.Pro999Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIM0|B4E3P0|Q13037|Q9BRL0	Missense_Mutation	SNP	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.P999L	ENST00000352035.2	37	c.2996	CCDS11412.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.576480	0.96565	.	.	ENSG00000131473	ENST00000352035;ENST00000401700;ENST00000353196;ENST00000537919;ENST00000393896	T;T;D;T	0.88741	-1.45;-1.45;-2.42;-1.45	5.68	5.68	0.88126	Citrate synthase-like, small alpha subdomain (1);Citrate synthase-like, core (1);	0.000000	0.85682	D	0.000000	D	0.93350	0.7880	M	0.72118	2.19	0.80722	D	1	D;D;P;P;P	0.57899	0.964;0.981;0.935;0.939;0.89	P;P;P;P;P	0.58721	0.691;0.833;0.691;0.844;0.691	D	0.93502	0.6845	10	0.72032	D	0.01	.	19.7951	0.96477	0.0:0.0:1.0:0.0	.	728;1043;1053;989;999	B4E3P0;B4DIM0;E7ENH9;G3XAI4;P53396	.;.;.;.;ACLY_HUMAN	L	999;1053;989;728;989	ENSP00000253792:P999L;ENSP00000345398:P989L;ENSP00000445349:P728L;ENSP00000377474:P989L	ENSP00000253792:P999L	P	-	2	0	ACLY	37279308	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.543000	0.98089	2.698000	0.92095	0.561000	0.74099	CCT	ACLY	-	pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,pirsf_ATP-citrate_synthase	ENSG00000131473		0.458	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	211	0.00	0	G	NM_001096		40025782	40025782	-1	no_errors	ENST00000352035	ensembl	human	known	69_37n	missense	172	29.51	72	SNP	1.000	A
ACTG1	71	genome.wustl.edu	37	17	79477829	79477830	+	Frame_Shift_Del	DEL	CC	CC	-	rs1139807	byFrequency	TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	CC	CC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr17:79477829_79477830delCC	ENST00000575842.1	-	5	1440_1441	c.1014_1015delGG	c.(1012-1017)tcggtgfs	p.V339fs	AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000573283.1_Frame_Shift_Del_p.V339fs|ACTG1_ENST00000575087.1_Frame_Shift_Del_p.V339fs|ACTG1_ENST00000331925.2_Frame_Shift_Del_p.V339fs			P63261	ACTG_HUMAN	actin, gamma 1	339					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.W340fs*18(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CCGATCCACACCGAGTACTTGC	0.629																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS11782.1	17q25	2010-04-23	2004-05-19		ENSG00000184009	ENSG00000184009			144	protein-coding gene	gene with protein product		102560	"""deafness, autosomal dominant 20; deafness, autosomal dominant 26"""	ACTG, DFNA20, DFNA26		14684684	Standard	NM_001614		Approved		uc002kal.2	P63261		ENST00000575842.1:c.1014_1015delGG	17.37:g.79477829_79477830delCC	ENSP00000458162:p.Val339fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Frame_Shift_Del	DEL	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.W340fs	ENST00000575842.1	37	c.1015_1014	CCDS11782.1	17																																																																																			ACTG1	-	pfam_Actin-like,smart_Actin-like	ENSG00000184009		0.629	ACTG1-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACTG1	HGNC	protein_coding	OTTHUMT00000439935.2	65	0.00	0	CC	NM_001614		79477829	79477830	-1	no_errors	ENST00000331925	ensembl	human	known	69_37n	frame_shift_del	57	14.93	10	DEL	0.997:0.001	-
ADAMTS18	170692	genome.wustl.edu	37	16	77326976	77326976	+	Silent	SNP	G	G	A			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr16:77326976G>A	ENST00000282849.5	-	20	3604	c.3186C>T	c.(3184-3186)agC>agT	p.S1062S	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1062	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S1062S(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCCATACCTCGCTCCACGAAG	0.527																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											71.0	66.0	67.0					16																	77326976		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3186C>T	16.37:g.77326976G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4R5|Q6ZWJ9	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S1062	ENST00000282849.5	37	c.3186	CCDS10926.1	16																																																																																			ADAMTS18	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000140873		0.527	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	HGNC	protein_coding	OTTHUMT00000269037.1	73	0.00	0	G			77326976	77326976	-1	no_errors	ENST00000282849	ensembl	human	known	69_37n	silent	32	39.62	21	SNP	0.996	A
CEP131	22994	genome.wustl.edu	37	17	79173241	79173241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr17:79173241G>A	ENST00000269392.4	-	10	1379	c.1132C>T	c.(1132-1134)Cag>Tag	p.Q378*	AZI1_ENST00000575907.1_Nonsense_Mutation_p.Q378*|AZI1_ENST00000570482.2_5'Flank|AZI1_ENST00000450824.2_Nonsense_Mutation_p.Q378*|RP11-455O6.2_ENST00000571085.1_RNA|AZI1_ENST00000374782.3_Nonsense_Mutation_p.Q378*	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		378					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.Q378*(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GACAGCTCCTGAGCAGGCTGC	0.662																																						dbGAP											2	Substitution - Nonsense(2)	breast(2)											45.0	38.0	40.0					17																	79173241		2197	4296	6493	-	-	-	SO:0001587	stop_gained	0																														ENST00000269392.4:c.1132C>T	17.37:g.79173241G>A	ENSP00000269392:p.Gln378*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHI8|B2RN11|Q96F50	Nonsense_Mutation	SNP	superfamily_t-SNARE	p.Q378*	ENST00000269392.4	37	c.1132		17	.	.	.	.	.	.	.	.	.	.	G	35	5.482532	0.96307	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	.	.	.	4.15	3.13	0.36017	.	0.330820	0.31123	N	0.008207	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.7434	6.8128	0.23814	0.0:0.1966:0.6007:0.2027	.	.	.	.	X	378	.	ENSP00000269392:Q378X	Q	-	1	0	AZI1	76787836	0.000000	0.05858	0.053000	0.19242	0.053000	0.15095	0.500000	0.22562	0.896000	0.36366	0.313000	0.20887	CAG	AZI1	-	NULL	ENSG00000141577		0.662	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	HGNC	protein_coding	OTTHUMT00000256070.1	43	0.00	0	G			79173241	79173241	-1	no_errors	ENST00000269392	ensembl	human	known	69_37n	nonsense	36	49.30	35	SNP	0.007	A
CACNA1H	8912	genome.wustl.edu	37	16	1260048	1260048	+	Missense_Mutation	SNP	G	G	A	rs534632699		TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr16:1260048G>A	ENST00000348261.5	+	18	4006	c.3758G>A	c.(3757-3759)cGc>cAc	p.R1253H	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1253H|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1253H|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1253					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.R1253H(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TGCTGCCTCCGCCTGCATAAA	0.706													G|||	1	0.000199681	0.0	0.0	5008	,	,		12688	0.0		0.0	False		,,,				2504	0.001					dbGAP											2	Substitution - Missense(2)	breast(2)											11.0	15.0	14.0					16																	1260048		2037	4078	6115	-	-	-	SO:0001583	missense	0			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.3758G>A	16.37:g.1260048G>A	ENSP00000334198:p.Arg1253His	Somatic		WXS	Illumina GAIIx	Phase_IV	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2	p.R1253H	ENST00000348261.5	37	c.3758	CCDS45375.1	16	.	.	.	.	.	.	.	.	.	.	G	16.69	3.191887	0.58017	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97041	-4.22;-4.17	3.85	3.85	0.44370	.	0.448888	0.21271	N	0.077319	D	0.98229	0.9414	M	0.79805	2.47	0.35683	D	0.814229	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.948	D	0.99970	1.1975	10	0.87932	D	0	.	14.9054	0.70715	0.0:0.0:1.0:0.0	.	1253;1253	O95180-2;O95180	.;CAC1H_HUMAN	H	1253	ENSP00000334198:R1253H;ENSP00000351401:R1253H	ENSP00000334198:R1253H	R	+	2	0	CACNA1H	1200049	0.966000	0.33281	0.006000	0.13384	0.185000	0.23345	5.388000	0.66249	1.984000	0.57885	0.491000	0.48974	CGC	CACNA1H	-	NULL	ENSG00000196557		0.706	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	CACNA1H	HGNC	protein_coding	OTTHUMT00000421601.1	16	0.00	0	G	NM_001005407		1260048	1260048	+1	no_errors	ENST00000348261	ensembl	human	known	69_37n	missense	42	22.22	12	SNP	0.769	A
FNDC7	163479	genome.wustl.edu	37	1	109268547	109268547	+	Silent	SNP	C	C	T			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr1:109268547C>T	ENST00000370017.3	+	6	1309	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G	FNDC7_ENST00000271311.2_Silent_p.G345G	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	344	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)		p.G111G(1)|p.G344G(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTGAGTGTGGCTTCACTTATT	0.403																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											193.0	181.0	185.0					1																	109268547		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.1032C>T	1.37:g.109268547C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.L120F	ENST00000370017.3	37	c.358	CCDS44185.1	1	.	.	.	.	.	.	.	.	.	.	C	8.850	0.944327	0.18356	.	.	ENSG00000143107	ENST00000445274	.	.	.	6.05	0.805	0.18703	.	.	.	.	.	T	0.29850	0.0746	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16541	-1.0399	4	.	.	.	-20.6799	4.0191	0.09657	0.2697:0.4391:0.0:0.2912	.	.	.	.	F	120	.	.	L	+	1	0	FNDC7	109070070	0.995000	0.38212	1.000000	0.80357	0.846000	0.48090	0.338000	0.19858	0.449000	0.26747	-0.136000	0.14681	CTT	FNDC7	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000143107		0.403	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FNDC7	HGNC	protein_coding	OTTHUMT00000030589.4	129	0.00	0	C	NM_173532		109268547	109268547	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000445274	ensembl	human	novel	69_37n	missense	125	26.90	46	SNP	0.999	T
GATA3	2625	genome.wustl.edu	37	10	8115874	8115875	+	Frame_Shift_Ins	INS	-	-	G	rs144824106		TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr10:8115874_8115875insG	ENST00000346208.3	+	6	1675_1676	c.1220_1221insG	c.(1219-1224)tcgcccfs	p.P408fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Ins_p.P409fs			P23771	GATA3_HUMAN	GATA binding protein 3	408					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.P409fs*>37(6)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCACATCTCGCCCTTCAGCC	0.604			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	6	Insertion - Frameshift(6)	breast(6)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1221dupG	10.37:g.8115875_8115875dupG	ENSP00000341619:p.Pro408fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.P409fs	ENST00000346208.3	37	c.1223_1224	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.604	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	77	0.00	0	-	NM_001002295		8115874	8115875	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	104	20.61	27	INS	0.903:0.359	G
GCC1	79571	genome.wustl.edu	37	7	127222606	127222606	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr7:127222606G>A	ENST00000321407.2	-	2	2214	c.1790C>T	c.(1789-1791)aCc>aTc	p.T597I	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	597					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.T597I(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTCCTTCTCGGTGAGCACAGC	0.642																																						dbGAP											1	Substitution - Missense(1)	breast(1)											57.0	54.0	55.0					7																	127222606		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1790C>T	7.37:g.127222606G>A	ENSP00000318821:p.Thr597Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H6N7	Missense_Mutation	SNP	pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP	p.T597I	ENST00000321407.2	37	c.1790	CCDS5796.1	7	.	.	.	.	.	.	.	.	.	.	G	3.081	-0.188968	0.06299	.	.	ENSG00000179562	ENST00000321407	T	0.11604	2.76	5.24	4.36	0.52297	.	0.494295	0.22838	N	0.055016	T	0.07188	0.0182	N	0.14661	0.345	0.09310	N	1	B	0.16166	0.016	B	0.08055	0.003	T	0.27536	-1.0071	10	0.42905	T	0.14	-1.4087	11.9742	0.53081	0.0852:0.0:0.9148:0.0	.	597	Q96CN9	GCC1_HUMAN	I	597	ENSP00000318821:T597I	ENSP00000318821:T597I	T	-	2	0	GCC1	127009842	0.999000	0.42202	0.004000	0.12327	0.005000	0.04900	6.905000	0.75714	1.331000	0.45412	-0.140000	0.14226	ACC	GCC1	-	NULL	ENSG00000179562		0.642	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC1	HGNC	protein_coding	OTTHUMT00000059911.3	40	0.00	0	G	NM_024523		127222606	127222606	-1	no_errors	ENST00000321407	ensembl	human	known	69_37n	missense	24	40.00	16	SNP	0.029	A
GIMAP7	168537	genome.wustl.edu	37	7	150217162	150217162	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr7:150217162delT	ENST00000313543.4	+	2	257	c.100delT	c.(100-102)tttfs	p.F34fs		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	34	AIG1-type G.				GTP catabolic process (GO:0006184)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)	p.F34fs*29(1)		breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGAGGAAATCTTTGATTCTAG	0.507																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)											65.0	59.0	61.0					7																	150217162		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC027613	CCDS5903.1	7q36.1	2014-04-04			ENSG00000179144	ENSG00000179144		"""GTPases, IMAP"""	22404	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 7"""					15474311	Standard	NM_153236		Approved	MGC27027, IAN7	uc003whk.3	Q8NHV1	OTTHUMG00000157626	ENST00000313543.4:c.100delT	7.37:g.150217162delT	ENSP00000315474:p.Phe34fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_AIG1	p.F34fs	ENST00000313543.4	37	c.100	CCDS5903.1	7																																																																																			GIMAP7	-	pfam_AIG1	ENSG00000179144		0.507	GIMAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP7	HGNC	protein_coding	OTTHUMT00000349277.1	71	0.00	0	T	NM_153236		150217162	150217162	+1	no_errors	ENST00000313543	ensembl	human	known	69_37n	frame_shift_del	36	10.00	4	DEL	0.796	-
IFT122	55764	genome.wustl.edu	37	3	129207141	129207141	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr3:129207141delG	ENST00000348417.2	+	16	1970	c.1893delG	c.(1891-1893)aagfs	p.K631fs	IFT122_ENST00000504021.1_Frame_Shift_Del_p.K525fs|IFT122_ENST00000296266.3_Frame_Shift_Del_p.K682fs|IFT122_ENST00000347300.2_Frame_Shift_Del_p.K572fs|IFT122_ENST00000431818.2_Frame_Shift_Del_p.K481fs|IFT122_ENST00000349441.2_Frame_Shift_Del_p.K520fs|IFT122_ENST00000440957.2_Frame_Shift_Del_p.K422fs|IFT122_ENST00000507564.1_Frame_Shift_Del_p.K623fs	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	631					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)		p.E683fs*23(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						AACTGTTCAAGGAAGCCTACC	0.463																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)											90.0	85.0	87.0					3																	129207141		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.1893delG	3.37:g.129207141delG	ENSP00000324005:p.Lys631fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E683fs	ENST00000348417.2	37	c.2046	CCDS3061.1	3																																																																																			IFT122	-	NULL	ENSG00000163913		0.463	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFT122	HGNC	protein_coding	OTTHUMT00000355852.1	118	0.00	0	G	NM_018262		129207141	129207141	+1	no_errors	ENST00000296266	ensembl	human	known	69_37n	frame_shift_del	104	19.08	25	DEL	0.993	-
KIAA1147	57189	genome.wustl.edu	37	7	141365068	141365076	+	In_Frame_Del	DEL	TGCCCCCGA	TGCCCCCGA	-	rs368996321		TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	TGCCCCCGA	TGCCCCCGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr7:141365068_141365076delTGCCCCCGA	ENST00000536163.1	-	6	862_870	c.863_871delTCGGGGGCA	c.(862-873)atcgggggcacc>acc	p.IGG288del	KIAA1147_ENST00000482493.1_In_Frame_Del_p.IGG184del|RP5-894A10.6_ENST00000602609.1_RNA	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	288								p.I288_G290delIGG(1)|p.G289R(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					TCAGGAATGGTGCCCCCGATGCCAGGCAG	0.608																																						dbGAP											2	Substitution - Missense(1)|Deletion - In frame(1)	large_intestine(1)|breast(1)																																								-	-	-	SO:0001651	inframe_deletion	0			AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.863_871delTCGGGGGCA	7.37:g.141365068_141365076delTGCCCCCGA	ENSP00000445768:p.Ile288_Gly290del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9ULS3	In_Frame_Del	DEL	pfam_DUF2347	p.IGG288in_frame_del	ENST00000536163.1	37	c.871_863	CCDS47726.1	7																																																																																			KIAA1147	-	pfam_DUF2347	ENSG00000257093		0.608	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1147	HGNC	protein_coding	OTTHUMT00000349104.1	116	0.00	0	TGCCCCCGA			141365068	141365076	-1	no_errors	ENST00000536163	ensembl	human	known	69_37n	in_frame_del	124	14.48	21	DEL	0.996:0.992:1.000:1.000:0.997:1.000:0.999:0.454:0.991	-
KIAA1244	57221	genome.wustl.edu	37	6	138599688	138599688	+	Silent	SNP	C	C	T			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr6:138599688C>T	ENST00000251691.4	+	13	2395	c.2229C>T	c.(2227-2229)ctC>ctT	p.L743L		NM_020340.4	NP_065073.3			KIAA1244									p.L672L(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCGCCCTGCTCCTCAACCTGA	0.602																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											156.0	126.0	136.0					6																	138599688		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2229C>T	6.37:g.138599688C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.L743	ENST00000251691.4	37	c.2229	CCDS5189.2	6																																																																																			KIAA1244	-	superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	ENSG00000112379		0.602	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	104	0.00	0	C	NM_020340		138599688	138599688	+1	no_errors	ENST00000251691	ensembl	human	known	69_37n	silent	79	25.47	27	SNP	0.943	T
MOCOS	55034	genome.wustl.edu	37	18	33793393	33793393	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr18:33793393C>T	ENST00000261326.5	+	7	1304	c.1283C>T	c.(1282-1284)gCc>gTc	p.A428V		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.A428V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AACACTGGGGCCTGCCAGAGG	0.532																																						dbGAP											1	Substitution - Missense(1)	breast(1)											73.0	65.0	68.0					18																	33793393		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1283C>T	18.37:g.33793393C>T	ENSP00000261326:p.Ala428Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom	p.A428V	ENST00000261326.5	37	c.1283	CCDS11919.1	18	.	.	.	.	.	.	.	.	.	.	C	34	5.329644	0.95733	.	.	ENSG00000075643	ENST00000261326	T	0.29655	1.56	5.56	5.56	0.83823	Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	T	0.58495	0.2126	M	0.85859	2.78	0.58432	D	0.999994	D	0.71674	0.998	D	0.66084	0.941	T	0.64275	-0.6446	10	0.72032	D	0.01	-19.6592	15.0209	0.71630	0.0:1.0:0.0:0.0	.	428	Q96EN8	MOCOS_HUMAN	V	428	ENSP00000261326:A428V	ENSP00000261326:A428V	A	+	2	0	MOCOS	32047391	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.475000	0.81041	2.619000	0.88677	0.555000	0.69702	GCC	MOCOS	-	pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000075643		0.532	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCOS	HGNC	protein_coding	OTTHUMT00000255801.1	62	0.00	0	C			33793393	33793393	+1	no_errors	ENST00000261326	ensembl	human	known	69_37n	missense	71	23.16	22	SNP	1.000	T
MOXD1	26002	genome.wustl.edu	37	6	132643998	132643998	+	Silent	SNP	G	G	A			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr6:132643998G>A	ENST00000367963.3	-	8	1243	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A	MOXD1_ENST00000336749.3_Silent_p.A307A|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	375						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)	p.A307A(1)|p.A375A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TTGGCTTTTCGGCTTCCAGAG	0.483																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											65.0	58.0	61.0					6																	132643998		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.1125C>T	6.37:g.132643998G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Silent	SNP	pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase	p.A375	ENST00000367963.3	37	c.1125	CCDS5152.2	6																																																																																			MOXD1	-	superfamily_PHM/PNGase_F_dom	ENSG00000079931		0.483	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MOXD1	HGNC	protein_coding	OTTHUMT00000125837.1	90	0.00	0	G	NM_015529		132643998	132643998	-1	no_errors	ENST00000367963	ensembl	human	known	69_37n	silent	60	28.57	24	SNP	0.992	A
NCAN	1463	genome.wustl.edu	37	19	19338574	19338574	+	Silent	SNP	G	G	A			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr19:19338574G>A	ENST00000252575.6	+	8	2244	c.2145G>A	c.(2143-2145)caG>caA	p.Q715Q	NCAN_ENST00000538881.1_Silent_p.Q166Q	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	715					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)	p.Q715Q(1)|p.Q729Q(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GCCCTGCTCAGGTCAACAAAG	0.577																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											71.0	71.0	71.0					19																	19338574		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2145G>A	19.37:g.19338574G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UPK6	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like	p.Q715	ENST00000252575.6	37	c.2145	CCDS12397.1	19																																																																																			NCAN	-	NULL	ENSG00000130287		0.577	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	57	0.00	0	G	NM_004386		19338574	19338574	+1	no_errors	ENST00000252575	ensembl	human	known	69_37n	silent	35	12.50	5	SNP	0.000	A
PNMT	5409	genome.wustl.edu	37	17	37825994	37825994	+	Silent	SNP	C	C	G			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr17:37825994C>G	ENST00000269582.2	+	2	633	c.315C>G	c.(313-315)gtC>gtG	p.V105V	PNMT_ENST00000581428.1_Silent_p.V105V|PNMT_ENST00000394246.1_Silent_p.V7V	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	105					catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|epinephrine biosynthetic process (GO:0042418)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phenylethanolamine N-methyltransferase activity (GO:0004603)	p.V105V(1)		NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCCTGGAGGTCAACCGCCAGG	0.607																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											46.0	44.0	45.0					17																	37825994		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11343.1	17q	2010-04-16			ENSG00000141744	ENSG00000141744	2.1.1.28		9160	protein-coding gene	gene with protein product		171190		PENT		3372503	Standard	NM_002686		Approved		uc002hsi.2	P11086	OTTHUMG00000133209	ENST00000269582.2:c.315C>G	17.37:g.37825994C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	p.V105	ENST00000269582.2	37	c.315	CCDS11343.1	17																																																																																			PNMT	-	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	ENSG00000141744		0.607	PNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMT	HGNC	protein_coding	OTTHUMT00000256923.2	34	0.00	0	C	NM_002686		37825994	37825994	+1	no_errors	ENST00000269582	ensembl	human	known	69_37n	silent	46	11.54	6	SNP	1.000	G
REG3A	5068	genome.wustl.edu	37	2	79384752	79384752	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr2:79384752T>A	ENST00000409839.3	-	5	442	c.406A>T	c.(406-408)Aat>Tat	p.N136Y	REG3A_ENST00000305165.2_Missense_Mutation_p.N136Y|REG3A_ENST00000393878.1_Missense_Mutation_p.N136Y|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	136	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.N136Y(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						GTGGAGGGATTTCTCTCCCAT	0.537																																						dbGAP											1	Substitution - Missense(1)	breast(1)											137.0	130.0	133.0					2																	79384752		2203	4300	6503	-	-	-	SO:0001583	missense	0			S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.406A>T	2.37:g.79384752T>A	ENSP00000386630:p.Asn136Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Pancreatis_ac	p.N136Y	ENST00000409839.3	37	c.406	CCDS1965.1	2	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327177	0.41197	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.15372	2.43;2.43;2.43	3.87	-7.73	0.01245	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.753768	0.12122	N	0.497557	T	0.11965	0.0291	M	0.63428	1.95	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.31668	-0.9935	10	0.62326	D	0.03	.	2.1054	0.03689	0.1328:0.3587:0.2712:0.2373	.	136	Q06141	REG3A_HUMAN	Y	136	ENSP00000386630:N136Y;ENSP00000377456:N136Y;ENSP00000304311:N136Y	ENSP00000304311:N136Y	N	-	1	0	REG3A	79238260	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.587000	0.02108	-1.619000	0.01566	-0.619000	0.04042	AAT	REG3A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Pancreatis_ac	ENSG00000172016		0.537	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG3A	HGNC	protein_coding	OTTHUMT00000252290.2	100	0.00	0	T	NM_002580		79384752	79384752	-1	no_errors	ENST00000305165	ensembl	human	known	69_37n	missense	107	26.21	38	SNP	0.000	A
RGS12	6002	genome.wustl.edu	37	4	3318650	3318650	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr4:3318650C>A	ENST00000344733.5	+	2	1657	c.753C>A	c.(751-753)agC>agA	p.S251R	RGS12_ENST00000543385.1_Missense_Mutation_p.S251R|RGS12_ENST00000336727.3_Missense_Mutation_p.S251R|RGS12_ENST00000382788.3_Missense_Mutation_p.S251R	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	251	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)	p.S251R(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTCCGACAGCTTGCAAGCCA	0.547																																						dbGAP											1	Substitution - Missense(1)	breast(1)											43.0	44.0	43.0					4																	3318650		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.753C>A	4.37:g.3318650C>A	ENSP00000339381:p.Ser251Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTyr_interaction_dom,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTyr_interaction_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.S251R	ENST00000344733.5	37	c.753	CCDS3366.1	4	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327647	0.24080	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.16457	3.1;2.34;2.34;2.34	4.54	-1.17	0.09648	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.27900	0.0687	L	0.49126	1.545	0.54753	D	0.999988	P;D;D	0.76494	0.875;0.999;0.999	P;D;D	0.74348	0.683;0.957;0.983	T	0.01269	-1.1400	10	0.25106	T	0.35	-23.9268	11.1099	0.48226	0.0:0.4164:0.0:0.5836	.	251;251;251	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	R	251	ENSP00000440566:S251R;ENSP00000339381:S251R;ENSP00000338509:S251R;ENSP00000372238:S251R	ENSP00000338509:S251R	S	+	3	2	RGS12	3288448	0.000000	0.05858	0.227000	0.23927	0.469000	0.32828	-1.225000	0.02956	-0.196000	0.10366	-0.339000	0.08088	AGC	RGS12	-	smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	ENSG00000159788		0.547	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1	22	0.00	0	C	NM_002926		3318650	3318650	+1	no_errors	ENST00000344733	ensembl	human	known	69_37n	missense	24	20.00	6	SNP	0.002	A
SLC38A10	124565	genome.wustl.edu	37	17	79258654	79258665	+	In_Frame_Del	DEL	TCTCCACCAGCA	TCTCCACCAGCA	-	rs368543620		TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	TCTCCACCAGCA	TCTCCACCAGCA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr17:79258654_79258665delTCTCCACCAGCA	ENST00000374759.3	-	3	631_642	c.248_259delTGCTGGTGGAGA	c.(247-261)atgctggtggagacc>acc	p.MLVE83del	SLC38A10_ENST00000288439.5_In_Frame_Del_p.MLVE83del|SLC38A10_ENST00000546352.1_5'Flank	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	83					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.M83_E86delMLVE(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCTTACCTGGTCTCCACCAGCATCTTGCCTGC	0.604																																						dbGAP											2	Deletion - In frame(2)	breast(2)																																								-	-	-	SO:0001651	inframe_deletion	0			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.248_259delTGCTGGTGGAGA	17.37:g.79258654_79258665delTCTCCACCAGCA	ENSP00000363891:p.Met83_Glu86del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZRC5|Q8NA99|Q96C66	In_Frame_Del	DEL	pfam_AA_transpt_TM	p.MLVE83in_frame_del	ENST00000374759.3	37	c.259_248	CCDS42397.1	17																																																																																			SLC38A10	-	pfam_AA_transpt_TM	ENSG00000157637		0.604	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	24	0.00	0	TCTCCACCAGCA	NM_138570		79258654	79258665	-1	no_errors	ENST00000374759	ensembl	human	known	69_37n	in_frame_del	25	21.21	7	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
TAS2R5	54429	genome.wustl.edu	37	7	141490297	141490297	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr7:141490297C>G	ENST00000247883.4	+	1	281	c.136C>G	c.(136-138)Ctc>Gtc	p.L46V		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	46					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.L46V(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					CTCATATAACCTCATTATCCT	0.468																																						dbGAP											1	Substitution - Missense(1)	breast(1)											114.0	110.0	112.0					7																	141490297		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.136C>G	7.37:g.141490297C>G	ENSP00000247883:p.Leu46Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q645W0|Q75MV7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.L46V	ENST00000247883.4	37	c.136	CCDS5869.1	7	.	.	.	.	.	.	.	.	.	.	C	9.585	1.124588	0.20959	.	.	ENSG00000127366	ENST00000247883	T	0.37411	1.2	4.46	0.477	0.16784	.	.	.	.	.	T	0.50616	0.1626	M	0.73598	2.24	0.09310	N	1	D	0.56287	0.975	D	0.62955	0.909	T	0.34800	-0.9814	9	0.51188	T	0.08	.	5.2203	0.15366	0.0:0.5495:0.2571:0.1934	.	46	Q9NYW4	TA2R5_HUMAN	V	46	ENSP00000247883:L46V	ENSP00000247883:L46V	L	+	1	0	TAS2R5	141136766	0.000000	0.05858	0.042000	0.18584	0.264000	0.26372	-0.398000	0.07259	-0.091000	0.12440	-0.291000	0.09656	CTC	TAS2R5	-	pfam_TAS2_rcpt	ENSG00000127366		0.468	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R5	HGNC	protein_coding	OTTHUMT00000349283.1	159	0.00	0	C			141490297	141490297	+1	no_errors	ENST00000247883	ensembl	human	known	69_37n	missense	207	22.18	59	SNP	0.007	G
TRAPPC9	83696	genome.wustl.edu	37	8	141294029	141294029	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr8:141294029A>C	ENST00000438773.2	-	14	2206	c.2073T>G	c.(2071-2073)atT>atG	p.I691M	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.I682M|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.I789M	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	691					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.I789M(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GCAACGCGGGAATGACTTCCA	0.527																																						dbGAP											1	Substitution - Missense(1)	breast(1)											113.0	108.0	110.0					8																	141294029		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2073T>G	8.37:g.141294029A>C	ENSP00000405060:p.Ile691Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	pfam_TRAPP_II_complex_Trs120	p.I789M	ENST00000438773.2	37	c.2367	CCDS55278.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.26|17.26	3.343289|3.343289	0.61073|0.61073	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773|ENST00000520857	.|.	.|.	.|.	5.55|5.55	-6.79|-6.79	0.01715|0.01715	.|.	0.051612|.	0.85682|.	D|.	0.000000|.	T|T	0.69324|0.69324	0.3098|0.3098	M|M	0.71036|0.71036	2.16|2.16	0.41810|0.41810	D|D	0.989966|0.989966	D;P;D;D|.	0.89917|.	0.998;0.824;1.0;0.998|.	D;P;D;D|.	0.78314|.	0.957;0.766;0.991;0.935|.	T|T	0.73946|0.73946	-0.3822|-0.3822	9|5	0.46703|.	T|.	0.11|.	.|.	17.9824|17.9824	0.89145|0.89145	0.8683:0.0:0.1317:0.0|0.8683:0.0:0.1317:0.0	.|.	789;691;682;789|.	A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2|.	.;TPPC9_HUMAN;.;.|.	M|A	789;682;691|535	.|.	ENSP00000373978:I682M|.	I|S	-|-	3|1	3|0	TRAPPC9|TRAPPC9	141363211|141363211	0.243000|0.243000	0.23878|0.23878	0.367000|0.367000	0.25926|0.25926	0.504000|0.504000	0.33889|0.33889	-0.330000|-0.330000	0.07925|0.07925	-1.376000|-1.376000	0.02126|0.02126	-0.274000|-0.274000	0.10170|0.10170	ATT|TCC	TRAPPC9	-	pfam_TRAPP_II_complex_Trs120	ENSG00000167632		0.527	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	95	0.00	0	A	NM_031466		141294029	141294029	-1	no_errors	ENST00000389328	ensembl	human	known	69_37n	missense	86	23.21	26	SNP	0.936	C
UBC	7316	genome.wustl.edu	37	12	125397063	125397063	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0SU-01A-11D-A099-09	TCGA-A2-A0SU-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6ceaf20f-1458-4f7f-954a-e2f58ed163bf	e1e61ba9-925d-4bff-8943-0153ee1b9343	g.chr12:125397063C>A	ENST00000536769.1	-	1	2831	c.1255G>T	c.(1255-1257)Gac>Tac	p.D419Y	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Missense_Mutation_p.D419Y|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.D343Y			P0CG48	UBC_HUMAN	ubiquitin C	419	Ubiquitin-like 6. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|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)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)	p.D419Y(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTCTGCTGGTCAGGAGGGATG	0.537																																						dbGAP											1	Substitution - Missense(1)	breast(1)											57.0	56.0	56.0					12																	125397063		2149	4204	6353	-	-	-	SO:0001583	missense	0				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1255G>T	12.37:g.125397063C>A	ENSP00000441543:p.Asp419Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.D419Y	ENST00000536769.1	37	c.1255	CCDS9260.1	12	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699887	0.48307	.	.	ENSG00000150991	ENST00000536769;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.75477	-0.94;-0.94;-0.94	3.95	3.95	0.45737	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.64402	U	0.000018	D	0.88448	0.6439	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91171	0.4968	10	0.87932	D	0	.	13.5431	0.61686	0.0:1.0:0.0:0.0	.	419	P0CG48	UBC_HUMAN	Y	419;343;419;343	ENSP00000441543:D419Y;ENSP00000344818:D419Y;ENSP00000438394:D343Y	ENSP00000344818:D419Y	D	-	1	0	UBC	123963016	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	6.282000	0.72639	2.035000	0.60131	0.561000	0.74099	GAC	UBC	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000150991		0.537	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400177.1	120	0.00	0	C	NM_021009		125397063	125397063	-1	no_errors	ENST00000339647	ensembl	human	known	69_37n	missense	234	13.97	38	SNP	1.000	A
