#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
AMPD3	272	genome.wustl.edu	37	11	10517183	10517183	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr11:10517183C>T	ENST00000396554.3	+	9	1701	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	AMPD3_ENST00000444303.2_Missense_Mutation_p.R286C	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	445					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CATCTACGGCCGCAGTCCTGA	0.597																																						dbGAP											0													74.0	60.0	64.0					11																	10517183		2201	4294	6495	-	-	-	SO:0001583	missense	0			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1360C>T	11.37:g.10517183C>T	ENSP00000379802:p.Arg454Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.R445C	ENST00000396554.3	37	c.1333	CCDS7802.1	11	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858203	0.51376	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.15	4.23	0.50019	Adenosine/AMP deaminase (1);	0.103643	0.64402	D	0.000002	D	0.88926	0.6570	M	0.77103	2.36	0.80722	D	1	P;D;P	0.65815	0.833;0.995;0.737	P;P;B	0.59056	0.453;0.851;0.228	D	0.89643	0.3864	10	0.59425	D	0.04	-8.6598	13.6709	0.62424	0.0:0.9239:0.0:0.0761	.	452;445;454	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	C	286;454;445;452;445	ENSP00000396000:R286C;ENSP00000379802:R454C;ENSP00000379801:R445C;ENSP00000436987:R452C;ENSP00000431648:R445C	ENSP00000379801:R445C	R	+	1	0	AMPD3	10473759	0.994000	0.37717	1.000000	0.80357	0.963000	0.63663	1.919000	0.40015	1.158000	0.42547	0.491000	0.48974	CGC	AMPD3	-	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	ENSG00000133805		0.597	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	AMPD3	HGNC	protein_coding	OTTHUMT00000385783.2	33	0.00	0	C	NM_000480		10517183	10517183	+1	no_errors	ENST00000396553	ensembl	human	known	69_37n	missense	51	10.53	6	SNP	1.000	T
APCS	325	genome.wustl.edu	37	1	159557749	159557749	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr1:159557749G>A	ENST00000255040.2	+	1	135	c.38G>A	c.(37-39)aGc>aAc	p.S13N		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	13					acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					GTCCTCACCAGCCTCCTGGAA	0.483																																						dbGAP											0													112.0	102.0	106.0					1																	159557749		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.38G>A	1.37:g.159557749G>A	ENSP00000255040:p.Ser13Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin	p.S13N	ENST00000255040.2	37	c.38	CCDS1186.1	1	.	.	.	.	.	.	.	.	.	.	G	9.827	1.187304	0.21870	.	.	ENSG00000132703	ENST00000255040	T	0.10192	2.9	4.13	-2.06	0.07298	.	0.987293	0.08281	N	0.969994	T	0.04363	0.0120	M	0.73962	2.25	0.09310	N	1	B	0.27229	0.172	B	0.32022	0.139	T	0.44892	-0.9298	10	0.51188	T	0.08	-0.2414	1.9361	0.03337	0.1103:0.1787:0.275:0.436	.	13	P02743	SAMP_HUMAN	N	13	ENSP00000255040:S13N	ENSP00000255040:S13N	S	+	2	0	APCS	157824373	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-0.138000	0.10374	-0.519000	0.06444	0.655000	0.94253	AGC	APCS	-	NULL	ENSG00000132703		0.483	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCS	HGNC	protein_coding	OTTHUMT00000059024.2	46	0.00	0	G	NM_001639		159557749	159557749	+1	no_errors	ENST00000255040	ensembl	human	known	69_37n	missense	30	34.78	16	SNP	0.000	A
BTN1A1	696	genome.wustl.edu	37	6	26505349	26505349	+	Silent	SNP	C	C	A			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr6:26505349C>A	ENST00000244513.6	+	3	690	c.624C>A	c.(622-624)atC>atA	p.I208I		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	208	Ig-like V-type 2.					extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CAGTGATCATCAGAGACACTT	0.448																																						dbGAP											0													111.0	112.0	111.0					6																	26505349		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U39576	CCDS4614.1	6p22.1	2014-01-14			ENSG00000124557	ENSG00000124557		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1135	protein-coding gene	gene with protein product		601610		BTN		8114113, 9382921	Standard	NM_001732		Approved	BT, BTN1	uc003nif.4	Q13410	OTTHUMG00000016358	ENST00000244513.6:c.624C>A	6.37:g.26505349C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VAN3|Q4VAN4|Q9H458	Silent	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin	p.I208	ENST00000244513.6	37	c.624	CCDS4614.1	6																																																																																			BTN1A1	-	pfam_CD80_C2-set,pfscan_Ig-like	ENSG00000124557		0.448	BTN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN1A1	HGNC	protein_coding	OTTHUMT00000043776.1	33	0.00	0	C	NM_001732		26505349	26505349	+1	no_errors	ENST00000244513	ensembl	human	known	69_37n	silent	23	14.81	4	SNP	0.005	A
CARD14	79092	genome.wustl.edu	37	17	78166016	78166016	+	Intron	SNP	T	T	C	rs149266977	byFrequency	TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr17:78166016T>C	ENST00000573882.1	+	11	1775				CARD14_ENST00000573754.1_Intron|CARD14_ENST00000392434.2_Intron|CARD14_ENST00000570421.1_Intron|CARD14_ENST00000344227.2_Intron			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14						activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGTGTGTATGTATGTGTGTGT	0.383													T|||	40	0.00798722	0.025	0.0	5008	,	,		20324	0.0		0.001	False		,,,				2504	0.0061					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1240-286T>C	17.37:g.78166016T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B8QQJ3|Q9BVB5	Splice_Site	SNP	-	NULL	ENST00000573882.1	37	c.NULL	CCDS11768.1	17																																																																																			CARD14	-	-	ENSG00000141527		0.383	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	HGNC	protein_coding	OTTHUMT00000437507.1	8	0.00	0	T			78166016	78166016	+1	no_errors	ENST00000574148	ensembl	human	known	69_37n	splice_site	3	57.14	4	SNP	0.000	C
CARS2	79587	genome.wustl.edu	37	13	111296743	111296743	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr13:111296743C>T	ENST00000257347.4	-	13	1468	c.1405G>A	c.(1405-1407)Gca>Aca	p.A469T	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	469					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	TGTTGATTTGCCAGAGAAATT	0.383																																						dbGAP											0													68.0	69.0	68.0					13																	111296743		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.1405G>A	13.37:g.111296743C>T	ENSP00000257347:p.Ala469Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NI84|Q96IV4	Nonsense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Lys-tRNA-synth_I	p.W162*	ENST00000257347.4	37	c.486	CCDS9514.1	13	.	.	.	.	.	.	.	.	.	.	C	6.882	0.532143	0.13127	.	.	ENSG00000134905	ENST00000257347	T	0.42131	0.98	5.0	0.604	0.17547	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.999489	0.08099	N	0.998087	T	0.35595	0.0937	M	0.62723	1.935	0.09310	N	1	B	0.25850	0.136	B	0.24006	0.05	T	0.30090	-0.9990	10	0.27082	T	0.32	-16.0047	4.3485	0.11144	0.3352:0.4022:0.0:0.2626	.	469	Q9HA77	SYCM_HUMAN	T	469	ENSP00000257347:A469T	ENSP00000257347:A469T	A	-	1	0	CARS2	110094744	0.064000	0.20934	0.052000	0.19188	0.065000	0.16274	0.497000	0.22514	0.141000	0.18875	0.462000	0.41574	GCA	CARS2	-	NULL	ENSG00000134905		0.383	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARS2	HGNC	protein_coding	OTTHUMT00000045772.3	22	0.00	0	C	NM_024537		111296743	111296743	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000487253	ensembl	human	known	69_37n	nonsense	24	14.29	4	SNP	0.004	T
CTNND2	1501	genome.wustl.edu	37	5	11110989	11110991	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	TTC	TTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr5:11110989_11110991delTTC	ENST00000304623.8	-	14	2631_2633	c.2442_2444delGAA	c.(2440-2445)aagaaa>aaa	p.814_815KK>K	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_In_Frame_Del_p.381_382KK>K|CTNND2_ENST00000359640.2_In_Frame_Del_p.814_815KK>K|CTNND2_ENST00000511377.1_In_Frame_Del_p.723_724KK>K|CTNND2_ENST00000503622.1_In_Frame_Del_p.477_478KK>K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	814	Poly-Lys.				cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGATTTCTTTTTCTTCTTCTTCT	0.502																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2442_2444delGAA	5.37:g.11110998_11111000delTTC	ENSP00000307134:p.Lys817del	Somatic		WXS	Illumina GAIIx	Phase_IV	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	In_Frame_Del	DEL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.K817in_frame_del	ENST00000304623.8	37	c.2444_2442	CCDS3881.1	5																																																																																			CTNND2	-	superfamily_ARM-type_fold	ENSG00000169862		0.502	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	43	0.00	0	TTC	NM_001332		11110989	11110991	-1	no_errors	ENST00000304623	ensembl	human	known	69_37n	in_frame_del	25	10.71	3	DEL	1.000:1.000:1.000	-
DLGAP4	22839	genome.wustl.edu	37	20	35155567	35155567	+	3'UTR	SNP	C	C	T			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr20:35155567C>T	ENST00000373907.2	+	0	3311				RP5-977B1.7_ENST00000433238.1_RNA|DLGAP4_ENST00000373913.3_3'UTR|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000340491.4_3'UTR|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_3'UTR|DLGAP4_ENST00000339266.5_3'UTR|RP5-977B1.7_ENST00000425233.1_RNA			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4						cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CAAATTGACGCATACAAGGGC	0.373																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.*133C>T	20.37:g.35155567C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	RNA	SNP	-	NULL	ENST00000373907.2	37	NULL		20																																																																																			DLGAP4	-	-	ENSG00000080845		0.373	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding	OTTHUMT00000079025.2	25	0.00	0	C	NM_014902		35155567	35155567	+1	no_errors	ENST00000475894	ensembl	human	known	69_37n	rna	17	37.04	10	SNP	0.010	T
ZNF606	80095	genome.wustl.edu	37	19	58513807	58513807	+	Intron	SNP	A	A	C	rs4801243	byFrequency	TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr19:58513807A>C	ENST00000341164.4	-	1	570				ZNF606_ENST00000546715.1_Intron|ZNF606_ENST00000552579.1_5'UTR|ZNF606_ENST00000547121.1_5'UTR|CTD-2368P22.1_ENST00000550135.1_Missense_Mutation_p.D110A|ZNF606_ENST00000536132.1_Intron|ZNF606_ENST00000547828.1_Intron	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GCGCAGCAGGATCGGGGTCTG	0.721													C|||	808	0.161342	0.2095	0.2046	5008	,	,		11449	0.0655		0.2177	False		,,,				2504	0.1063					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.50+340T>G	19.37:g.58513807A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	NULL	p.D110A	ENST00000341164.4	37	c.329	CCDS12968.1	19	389	0.17811355311355312	99	0.20121951219512196	84	0.23204419889502761	44	0.07692307692307693	162	0.21372031662269128	C	9.019	0.984514	0.18889	.	.	ENSG00000176593	ENST00000550135	.	.	.	2.75	-1.81	0.07882	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.58432	P	4.000000000004E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.23084	-1.0198	6	0.87932	D	0	.	2.4036	0.04407	0.1732:0.3686:0.3403:0.1179	rs4801243;rs4801243	110	Q8N9G5	.	A	110	.	ENSP00000449124:D110A	D	+	2	0	CTD-2368P22.1	63205619	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.471000	0.02344	-0.858000	0.04110	-1.482000	0.00985	GAT	CTD-2368P22.1	-	NULL	ENSG00000176593		0.721	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000176593	Clone_based_vega_gene	protein_coding	OTTHUMT00000405961.1	9	0.00	0	A	NM_025027		58513807	58513807	+1	no_errors	ENST00000550135	ensembl	human	putative	69_37n	missense	7	58.82	10	SNP	0.000	C
EPS15	2060	genome.wustl.edu	37	1	51906092	51906092	+	Missense_Mutation	SNP	A	A	G			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr1:51906092A>G	ENST00000371733.3	-	12	1063	c.967T>C	c.(967-969)Tca>Cca	p.S323P	EPS15_ENST00000371730.2_Missense_Mutation_p.S323P	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	323	Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ACAGGACTTGATCCTATGATG	0.299			T	MLL	ALL																																	dbGAP		Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	1	Whole gene deletion(1)	central_nervous_system(1)											97.0	95.0	96.0					1																	51906092		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.967T>C	1.37:g.51906092A>G	ENSP00000360798:p.Ser323Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.S323P	ENST00000371733.3	37	c.967	CCDS557.1	1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194399	0.38806	.	.	ENSG00000085832	ENST00000371730;ENST00000371733	T;T	0.26067	1.79;1.76	5.03	3.92	0.45320	.	.	.	.	.	T	0.16300	0.0392	L	0.28115	0.83	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.002	T	0.07693	-1.0759	9	0.45353	T	0.12	.	6.1033	0.20059	0.8225:0.0:0.1775:0.0	.	323;323	B1AUU8;P42566	.;EPS15_HUMAN	P	323	ENSP00000360795:S323P;ENSP00000360798:S323P	ENSP00000360795:S323P	S	-	1	0	EPS15	51678680	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.495000	0.35627	2.193000	0.70182	0.528000	0.53228	TCA	EPS15	-	NULL	ENSG00000085832		0.299	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	50	0.00	0	A	NM_001981		51906092	51906092	-1	no_errors	ENST00000371733	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	1.000	G
PRR36	80164	genome.wustl.edu	37	19	7935879	7935879	+	Missense_Mutation	SNP	G	G	A	rs12984448	byFrequency	TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr19:7935879G>A	ENST00000539422.1	-	5	2413	c.2251C>T	c.(2251-2253)Ccc>Tcc	p.P751S	CTD-3193O13.11_ENST00000597156.1_lincRNA|CTD-3193O13.9_ENST00000593356.1_Intron	NM_001190467.1	NP_001177396.1																					GTGGTCAGGGGAGCAGAAGCT	0.627																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0																														ENST00000539422.1:c.2251C>T	19.37:g.7935879G>A	ENSP00000438970:p.Pro751Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.P751S	ENST00000539422.1	37	c.2251		19	155	0.07097069597069597	15	0.03048780487804878	42	0.11602209944751381	25	0.043706293706293704	73	0.09630606860158311	G	6.933	0.541888	0.13250	.	.	ENSG00000183248	ENST00000539422	.	.	.	2.73	-0.938	0.10412	.	.	.	.	.	T	0.00210	0.0006	N	0.14661	0.345	0.19775	N	0.999951	.	.	.	.	.	.	T	0.16541	-1.0399	6	0.07325	T	0.83	.	3.3271	0.07071	0.4667:0.2194:0.3139:0.0	rs12984448;rs52806535;rs12984448	.	.	.	S	751	.	ENSP00000438970:P751S	P	-	1	0	AC010336.1	7841879	0.000000	0.05858	0.006000	0.13384	0.356000	0.29392	-4.198000	0.00275	-0.220000	0.09988	0.074000	0.15403	CCC	AC010336.1	-	NULL	ENSG00000183248		0.627	CTD-3193O13.9-201	KNOWN	basic|appris_principal	protein_coding	FLJ22184	Clone_based_ensembl_gene	protein_coding		20	0.00	0	G			7935879	7935879	-1	no_errors	ENST00000539422	ensembl	human	known	69_37n	missense	12	29.41	5	SNP	0.181	A
FMN2	56776	genome.wustl.edu	37	1	240370194	240370194	+	Silent	SNP	G	G	A			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr1:240370194G>A	ENST00000319653.9	+	5	2312	c.2082G>A	c.(2080-2082)gaG>gaA	p.E694E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	694					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTGAACTAGAGAGGCAGTATC	0.507																																						dbGAP											0													69.0	70.0	69.0					1																	240370194		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2082G>A	1.37:g.240370194G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.E694	ENST00000319653.9	37	c.2082	CCDS31069.2	1																																																																																			FMN2	-	NULL	ENSG00000155816		0.507	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	31	0.00	0	G	XM_371352		240370194	240370194	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	silent	26	35.00	14	SNP	1.000	A
IRAK1BP1	134728	genome.wustl.edu	37	6	79577332	79577332	+	Silent	SNP	G	G	A			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr6:79577332G>A	ENST00000369940.2	+	1	144	c.39G>A	c.(37-39)gtG>gtA	p.V13V		NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	13	Intrinsically disordered.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		GAGTGTTCGTGGAACTGGTTC	0.632																																						dbGAP											0													82.0	86.0	85.0					6																	79577332		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.39G>A	6.37:g.79577332G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DUF541	p.V13	ENST00000369940.2	37	c.39	CCDS34488.1	6																																																																																			IRAK1BP1	-	NULL	ENSG00000146243		0.632	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1BP1	HGNC	protein_coding	OTTHUMT00000041296.2	29	0.00	0	G	XM_059729		79577332	79577332	+1	no_errors	ENST00000369940	ensembl	human	known	69_37n	silent	30	31.82	14	SNP	0.998	A
GPALPP1	55425	genome.wustl.edu	37	13	45580422	45580422	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr13:45580422G>A	ENST00000379151.4	+	3	410	c.307G>A	c.(307-309)Gat>Aat	p.D103N	GPALPP1_ENST00000357537.3_De_novo_Start_OutOfFrame|GPALPP1_ENST00000361121.2_Missense_Mutation_p.D103N|RP11-321C24.1_ENST00000437748.2_lincRNA	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	103																	TAAAAAGCAGGATGATTCTCC	0.333																																						dbGAP											0													184.0	182.0	183.0					13																	45580422		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.307G>A	13.37:g.45580422G>A	ENSP00000368447:p.Asp103Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	Missense_Mutation	SNP	pfam_DUF3752	p.D103N	ENST00000379151.4	37	c.307	CCDS9394.1	13	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797361	0.31777	.	.	ENSG00000133114	ENST00000379151;ENST00000361121	T;T	0.65364	-0.15;-0.15	4.9	4.9	0.64082	.	0.317298	0.32533	N	0.005969	T	0.50188	0.1601	L	0.33339	1.005	0.44956	D	0.997979	B	0.23185	0.081	B	0.20955	0.032	T	0.44143	-0.9347	10	0.18276	T	0.48	-13.9653	15.2641	0.73649	0.0:0.0:1.0:0.0	.	103	Q8IXQ4	K1704_HUMAN	N	103	ENSP00000368447:D103N;ENSP00000355211:D103N	ENSP00000355211:D103N	D	+	1	0	KIAA1704	44478422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.526000	0.53509	2.260000	0.74910	0.655000	0.94253	GAT	KIAA1704	-	NULL	ENSG00000133114		0.333	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1704	HGNC	protein_coding	OTTHUMT00000044749.2	57	0.00	0	G	NM_018559		45580422	45580422	+1	no_errors	ENST00000361121	ensembl	human	known	69_37n	missense	46	24.59	15	SNP	1.000	A
LMBRD2	92255	genome.wustl.edu	37	5	36114621	36114621	+	Silent	SNP	A	A	T			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr5:36114621A>T	ENST00000296603.4	-	13	2007	c.1545T>A	c.(1543-1545)atT>atA	p.I515I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	515						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGAACCCATAATCTGAAGAG	0.303																																						dbGAP											0													49.0	54.0	52.0					5																	36114621		2194	4275	6469	-	-	-	SO:0001819	synonymous_variant	0				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1545T>A	5.37:g.36114621A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRB6|Q9NTC7	Silent	SNP	pfam_LMBR1-like_membr_prot	p.I515	ENST00000296603.4	37	c.1545	CCDS34145.1	5																																																																																			LMBRD2	-	pfam_LMBR1-like_membr_prot	ENSG00000164187		0.303	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD2	HGNC	protein_coding	OTTHUMT00000367552.1	31	0.00	0	A	NM_001007527		36114621	36114621	-1	no_errors	ENST00000296603	ensembl	human	known	69_37n	silent	16	23.81	5	SNP	1.000	T
MGAM	8972	genome.wustl.edu	37	7	141794453	141794453	+	Splice_Site	SNP	A	A	T	rs202001107	byFrequency	TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr7:141794453A>T	ENST00000549489.2	+	39	4747	c.4652A>T	c.(4651-4653)tAt>tTt	p.Y1551F	MGAM_ENST00000475668.2_Splice_Site_p.Y2447F	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1551	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGCATATCCTATGTGAGTGTC	0.527													a|||	8	0.00159744	0.0061	0.0	5008	,	,		17903	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													120.0	108.0	112.0					7																	141794453		2075	4202	6277	-	-	-	SO:0001630	splice_region_variant	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4653+1A>T	7.37:g.141794453A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.Y1551F	ENST00000549489.2	37	c.4652	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	A	16.16	3.045439	0.55110	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.93859	-3.3	5.15	3.98	0.46160	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.91143	0.7211	L	0.28400	0.85	0.36228	D	0.852428	P	0.46706	0.883	P	0.50825	0.651	D	0.91753	0.5414	9	0.51188	T	0.08	.	10.8375	0.46696	0.8585:0.0:0.0:0.1415	.	1551	O43451	MGA_HUMAN	F	1551;2448	ENSP00000447378:Y1551F	ENSP00000373973:Y1551F	Y	+	2	0	MGAM	141440922	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	7.065000	0.76727	0.878000	0.35920	0.533000	0.62120	TAT	MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000257335		0.527	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	74	0.00	0	A		Missense_Mutation	141794453	141794453	+1	no_errors	ENST00000549489	ensembl	human	known	69_37n	missense	114	10.24	13	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151902226	151902226	+	Frame_Shift_Del	DEL	C	C	-			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr7:151902226delC	ENST00000262189.6	-	25	4144	c.3926delG	c.(3925-3927)ggcfs	p.G1309fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.G1309fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1309					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGAAATAGAGCCTGAGGAATC	0.358																																						dbGAP											0													77.0	67.0	70.0					7																	151902226		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3926delG	7.37:g.151902226delC	ENSP00000262189:p.Gly1309fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.G1309fs	ENST00000262189.6	37	c.3926	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.358	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	103	0.00	0	C			151902226	151902226	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_del	104	25.35	36	DEL	1.000	-
KMT2C	58508	genome.wustl.edu	37	7	151949699	151949699	+	Nonsense_Mutation	SNP	A	A	T			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr7:151949699A>T	ENST00000262189.6	-	10	1619	c.1401T>A	c.(1399-1401)tgT>tgA	p.C467*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.C467*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	467					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CACAGAAGGGACATAAGTTAT	0.383																																						dbGAP											0													137.0	116.0	123.0					7																	151949699		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1401T>A	7.37:g.151949699A>T	ENSP00000262189:p.Cys467*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.C467*	ENST00000262189.6	37	c.1401	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	A	40	8.063784	0.98635	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	6.03	4.69	0.59074	.	0.000000	0.50627	D	0.000101	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0593	0.42263	0.86:0.0:0.14:0.0	.	.	.	.	X	467	.	ENSP00000262189:C467X	C	-	3	2	MLL3	151580632	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.452000	0.44961	2.313000	0.78055	0.454000	0.30748	TGT	MLL3	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger	ENSG00000055609		0.383	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	35	0.00	0	A			151949699	151949699	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	nonsense	23	51.06	24	SNP	1.000	T
MUC2	4583	genome.wustl.edu	37	11	1092290	1092291	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr11:1092290_1092291delAG	ENST00000441003.2	+	30	4136_4137	c.4109_4110delAG	c.(4108-4110)cagfs	p.Q1370fs	MUC2_ENST00000361558.6_Frame_Shift_Del_p.Q36fs|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Frame_Shift_Del_p.Q1371fs	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1370					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AATGAAGACCAGTTTGGAAATG	0.5																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4109_4110delAG	11.37:g.1092290_1092291delAG	ENSP00000415183:p.Gln1370fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14878	Frame_Shift_Del	DEL	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.Q1370fs	ENST00000441003.2	37	c.4109_4110		11																																																																																			MUC2	-	NULL	ENSG00000198788		0.500	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	105	0.00	0	AG	NM_002457		1092290	1092291	+1	no_errors	ENST00000441003	ensembl	human	known	69_37n	frame_shift_del	83	16.83	17	DEL	0.993:0.833	-
NUP50	10762	genome.wustl.edu	37	22	45574234	45574234	+	Silent	SNP	C	C	A			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr22:45574234C>A	ENST00000347635.4	+	5	922	c.456C>A	c.(454-456)gtC>gtA	p.V152V	NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000407019.2_Silent_p.V124V|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000396096.2_Silent_p.V124V|CTA-268H5.12_ENST00000610217.1_RNA	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	152	5 X 2 AA repeats of F-G.|Binding to CDKN1B. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGCTTGTGTCGGAAATGCCT	0.507																																						dbGAP											0													31.0	31.0	31.0					22																	45574234		2202	4280	6482	-	-	-	SO:0001819	synonymous_variant	0			AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.456C>A	22.37:g.45574234C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Silent	SNP	pfam_NUP2/50/61,pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.V152	ENST00000347635.4	37	c.456	CCDS14062.1	22																																																																																			NUP50	-	pfam_NUP2/50/61	ENSG00000093000		0.507	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP50	HGNC	protein_coding	OTTHUMT00000321993.2	105	0.00	0	C			45574234	45574234	+1	no_errors	ENST00000347635	ensembl	human	known	69_37n	silent	72	20.88	19	SNP	0.000	A
OR1M1	125963	genome.wustl.edu	37	19	9204371	9204371	+	Missense_Mutation	SNP	T	T	A	rs375660862		TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr19:9204371T>A	ENST00000429566.3	+	1	517	c.451T>A	c.(451-453)Ttt>Att	p.F151I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	151						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(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTCTGGGCGTTTTCCTGCTT	0.587																																						dbGAP											0													113.0	92.0	99.0					19																	9204371		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.451T>A	19.37:g.9204371T>A	ENSP00000401966:p.Phe151Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F151I	ENST00000429566.3	37	c.451	CCDS32896.1	19	.	.	.	.	.	.	.	.	.	.	t	1.823	-0.471851	0.04445	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.36699	1.24	3.9	-3.04	0.05412	GPCR, rhodopsin-like superfamily (1);	0.593871	0.16118	N	0.228767	T	0.10465	0.0256	N	0.03000	-0.44	0.09310	N	1	B	0.23128	0.08	B	0.24701	0.055	T	0.30794	-0.9966	10	0.02654	T	1	.	6.6796	0.23113	0.6424:0.0797:0.0:0.2779	.	151	Q8NGA1	OR1M1_HUMAN	I	154;151	ENSP00000401966:F151I	ENSP00000303195:F154I	F	+	1	0	OR1M1	9065371	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.162000	0.10012	-0.959000	0.03618	0.524000	0.50904	TTT	OR1M1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000170929		0.587	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1M1	HGNC	protein_coding	OTTHUMT00000448993.1	39	0.00	0	T			9204371	9204371	+1	no_errors	ENST00000429566	ensembl	human	known	69_37n	missense	18	47.06	16	SNP	0.000	A
PGR	5241	genome.wustl.edu	37	11	100922235	100922235	+	Missense_Mutation	SNP	C	C	A			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr11:100922235C>A	ENST00000325455.5	-	5	3730	c.2277G>T	c.(2275-2277)atG>atT	p.M759I	PGR_ENST00000534013.1_Missense_Mutation_p.M165I|PGR_ENST00000263463.5_Missense_Mutation_p.M657I	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	759	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GACCAAACACCATTAAGCTCA	0.348																																					Pancreas(124;2271 2354 21954 22882)	dbGAP											0													119.0	116.0	117.0					11																	100922235		2203	4300	6503	-	-	-	SO:0001583	missense	0			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2277G>T	11.37:g.100922235C>A	ENSP00000325120:p.Met759Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.M759I	ENST00000325455.5	37	c.2277	CCDS8310.1	11	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706602	0.89018	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	T;T;D	0.96554	1.37;1.37;-4.05	5.24	5.24	0.73138	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97952	0.9326	M	0.78916	2.43	0.53688	D	0.999976	D;D;D	0.67145	0.988;0.993;0.996	D;D;D	0.78314	0.972;0.991;0.991	D	0.97669	1.0165	10	0.37606	T	0.19	.	18.8379	0.92169	0.0:1.0:0.0:0.0	.	657;759;140	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	I	759;165;657;657	ENSP00000325120:M759I;ENSP00000436561:M165I;ENSP00000263463:M657I	ENSP00000263463:M657I	M	-	3	0	PGR	100427445	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.818000	0.86416	2.435000	0.82474	0.650000	0.86243	ATG	PGR	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000082175		0.348	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGR	HGNC	protein_coding	OTTHUMT00000394934.1	23	0.00	0	C			100922235	100922235	-1	no_errors	ENST00000325455	ensembl	human	known	69_37n	missense	15	16.67	3	SNP	1.000	A
PPARG	5468	genome.wustl.edu	37	3	12447485	12447485	+	Missense_Mutation	SNP	C	C	G			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr3:12447485C>G	ENST00000287820.6	+	5	845	c.724C>G	c.(724-726)Ctg>Gtg	p.L242V	PPARG_ENST00000309576.6_Missense_Mutation_p.L214V|PPARG_ENST00000397015.2_Missense_Mutation_p.L214V|PPARG_ENST00000539812.1_Missense_Mutation_p.L212V|PPARG_ENST00000397026.2_Missense_Mutation_p.L220V|PPARG_ENST00000397012.2_Missense_Mutation_p.L214V|PPARG_ENST00000397010.2_Missense_Mutation_p.L214V|PPARG_ENST00000397000.1_Missense_Mutation_p.L214V	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	242	Interaction with FAM120B. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L242V(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	CCTCCGGGCCCTGGCAAAACA	0.527			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																															dbGAP		Dom	yes		3	3p25	5468	"""peroxisome proliferative activated receptor, gamma"""	yes	E	1	Substitution - Missense(1)	breast(1)											69.0	70.0	70.0					3																	12447485		2203	4300	6503	-	-	-	SO:0001583	missense	0			X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.724C>G	3.37:g.12447485C>G	ENSP00000287820:p.Leu242Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.L242V	ENST00000287820.6	37	c.724	CCDS2609.1	3	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254495	0.80135	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000397000;ENST00000539812;ENST00000287820	T;T;T;T;T;D;D;T	0.91407	-0.63;-0.63;-0.63;-0.63;-0.63;-2.84;-2.84;-0.63	5.81	5.81	0.92471	Nuclear hormone receptor, ligand-binding (1);	0.302249	0.32533	N	0.005977	D	0.96128	0.8738	M	0.87758	2.905	0.58432	D	0.999994	D;P;D	0.71674	0.998;0.791;0.998	D;P;D	0.77557	0.99;0.476;0.99	D	0.95686	0.8736	10	0.54805	T	0.06	.	20.0896	0.97814	0.0:1.0:0.0:0.0	.	242;228;214	P37231;Q4W4C7;E9PFX5	PPARG_HUMAN;.;.	V	214;214;214;214;220;214;212;242	ENSP00000380205:L214V;ENSP00000312472:L214V;ENSP00000380210:L214V;ENSP00000380207:L214V;ENSP00000380221:L220V;ENSP00000380196:L214V;ENSP00000438940:L212V;ENSP00000287820:L242V	ENSP00000287820:L242V	L	+	1	2	PPARG	12422485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.553000	0.67287	2.741000	0.93983	0.650000	0.86243	CTG	PPARG	-	superfamily_Nucl_hormone_rcpt_ligand-bd,prints_1Cnucl_rcpt	ENSG00000132170		0.527	PPARG-002	KNOWN	basic|CCDS	protein_coding	PPARG	HGNC	protein_coding	OTTHUMT00000251979.2	34	0.00	0	C	NM_005037		12447485	12447485	+1	no_errors	ENST00000287820	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	1.000	G
RP1L1	94137	genome.wustl.edu	37	8	10464643	10464643	+	Missense_Mutation	SNP	T	T	A			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr8:10464643T>A	ENST00000382483.3	-	4	7188	c.6965A>T	c.(6964-6966)gAc>gTc	p.D2322V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2402	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].		E -> G. {ECO:0000269|PubMed:12724644}.		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCTCCTTGTGTCTCCAAGTAC	0.557																																						dbGAP											0													205.0	205.0	205.0					8																	10464643		1945	4143	6088	-	-	-	SO:0001583	missense	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6965A>T	8.37:g.10464643T>A	ENSP00000371923:p.Asp2322Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.D2322V	ENST00000382483.3	37	c.6965	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	T	11.18	1.563976	0.27915	.	.	ENSG00000183638	ENST00000382483	T	0.06218	3.33	4.4	3.24	0.37175	.	0.000000	0.35407	U	0.003222	T	0.06962	0.0177	N	0.19112	0.55	0.09310	N	1	D	0.59357	0.985	P	0.53360	0.724	T	0.18241	-1.0343	10	0.66056	D	0.02	-8.3924	4.9157	0.13844	0.1625:0.0886:0.0:0.7489	.	2322	A6NKC6	.	V	2322	ENSP00000371923:D2322V	ENSP00000371923:D2322V	D	-	2	0	RP1L1	10502053	.	.	0.004000	0.12327	0.007000	0.05969	.	.	0.841000	0.35020	0.414000	0.27820	GAC	RP1L1	-	NULL	ENSG00000183638		0.557	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	52	0.00	0	T			10464643	10464643	-1	no_errors	ENST00000382483	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	0.002	A
SLC47A2	146802	genome.wustl.edu	37	17	19584880	19584880	+	Missense_Mutation	SNP	A	A	G			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr17:19584880A>G	ENST00000325411.5	-	14	1426	c.1376T>C	c.(1375-1377)cTg>cCg	p.L459P	SLC47A2_ENST00000350657.5_Missense_Mutation_p.L437P|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	459					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	CACAAAGGTCAGAAGGATGCC	0.532																																						dbGAP											0													85.0	74.0	78.0					17																	19584880		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.1376T>C	17.37:g.19584880A>G	ENSP00000326671:p.Leu459Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	pfam_MATE,tigrfam_MATE	p.L459P	ENST00000325411.5	37	c.1376	CCDS11211.1	17	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230156	0.58777	.	.	ENSG00000180638	ENST00000350657;ENST00000325411	T;T	0.56941	0.49;0.43	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000002	T	0.75693	0.3884	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.97110	1.0;1.0;0.962	T	0.80774	-0.1232	10	0.87932	D	0	-22.4476	12.786	0.57504	1.0:0.0:0.0:0.0	.	423;437;459	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	P	437;459	ENSP00000338084:L437P;ENSP00000326671:L459P	ENSP00000326671:L459P	L	-	2	0	SLC47A2	19525472	0.987000	0.35691	0.458000	0.27068	0.376000	0.30014	4.805000	0.62561	2.103000	0.63969	0.460000	0.39030	CTG	SLC47A2	-	tigrfam_MATE	ENSG00000180638		0.532	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	SLC47A2	HGNC	protein_coding	OTTHUMT00000132242.2	55	0.00	0	A	NM_152908		19584880	19584880	-1	no_errors	ENST00000325411	ensembl	human	known	69_37n	missense	39	33.90	20	SNP	0.995	G
SPARCL1	8404	genome.wustl.edu	37	4	88411538	88411538	+	Missense_Mutation	SNP	C	C	G			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr4:88411538C>G	ENST00000282470.6	-	7	1888	c.1418G>C	c.(1417-1419)gGc>gCc	p.G473A	SPARCL1_ENST00000418378.1_Missense_Mutation_p.G473A|SPARCL1_ENST00000503414.1_Missense_Mutation_p.G348A	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	473	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		ATTGTCAGTGCCACAAACCTA	0.438																																						dbGAP											0													215.0	226.0	222.0					4																	88411538		2203	4300	6503	-	-	-	SO:0001583	missense	0			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1418G>C	4.37:g.88411538C>G	ENSP00000282470:p.Gly473Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.G473A	ENST00000282470.6	37	c.1418	CCDS3622.1	4	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659384	0.88154	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.58210	0.35;0.35;0.35	5.48	5.48	0.80851	Proteinase inhibitor I1, Kazal (2);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	M	0.62016	1.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71810	-0.4480	10	0.59425	D	0.04	-21.5606	18.7388	0.91765	0.0:1.0:0.0:0.0	.	473	Q14515	SPRL1_HUMAN	A	473;473;348;348	ENSP00000282470:G473A;ENSP00000414856:G473A;ENSP00000422903:G348A	ENSP00000282470:G473A	G	-	2	0	SPARCL1	88630562	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.354000	0.79424	2.756000	0.94617	0.655000	0.94253	GGC	SPARCL1	-	pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1	ENSG00000152583		0.438	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	42	0.00	0	C			88411538	88411538	-1	no_errors	ENST00000282470	ensembl	human	known	69_37n	missense	26	29.73	11	SNP	1.000	G
TMEM26	219623	genome.wustl.edu	37	10	63170376	63170376	+	Missense_Mutation	SNP	C	C	G			TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr10:63170376C>G	ENST00000399298.3	-	6	1179	c.811G>C	c.(811-813)Gtg>Ctg	p.V271L	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	271						integral component of membrane (GO:0016021)		p.V271M(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					ATGAGACGCACGACAAGGAAG	0.502																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											81.0	86.0	84.0					10																	63170376		2116	4228	6344	-	-	-	SO:0001583	missense	0			BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.811G>C	10.37:g.63170376C>G	ENSP00000382237:p.Val271Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	pfam_Transmembrane_26	p.V271L	ENST00000399298.3	37	c.811	CCDS41530.1	10	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977365	0.34848	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.95	4.09	0.47781	.	0.386199	0.28694	N	0.014456	T	0.44891	0.1315	L	0.33485	1.01	0.80722	D	1	B	0.30824	0.296	B	0.31245	0.126	T	0.26815	-1.0092	9	0.30854	T	0.27	-3.3383	10.8225	0.46612	0.2639:0.609:0.1271:0.0	.	271	Q6ZUK4	TMM26_HUMAN	L	271	.	ENSP00000382237:V271L	V	-	1	0	TMEM26	62840382	0.912000	0.30974	0.525000	0.27900	0.618000	0.37518	1.901000	0.39838	0.845000	0.35118	0.655000	0.94253	GTG	TMEM26	-	pfam_Transmembrane_26	ENSG00000196932		0.502	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM26	HGNC	protein_coding	OTTHUMT00000359121.1	31	0.00	0	C	NM_178505		63170376	63170376	-1	no_errors	ENST00000399298	ensembl	human	known	69_37n	missense	28	37.78	17	SNP	0.981	G
ZNF503	84858	genome.wustl.edu	37	10	77161112	77161112	+	Silent	SNP	T	T	G	rs11542744	byFrequency	TCGA-OL-A66H-01A-11D-A29N-09	TCGA-OL-A66H-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	069ecb6d-ce1e-4091-a953-a968d851c0d7	6301b1ed-a989-4fea-994c-96fcd75a42d9	g.chr10:77161112T>G	ENST00000372524.4	-	1	552	c.66A>C	c.(64-66)ggA>ggC	p.G22G	ZNF503-AS2_ENST00000425916.3_RNA|ZNF503-AS2_ENST00000466942.2_RNA|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000486015.1_RNA|ZNF503_ENST00000535216.1_Silent_p.G22G	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	22	Gly-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					cgcctccgcctccgccgccgc	0.726													-|||	71	0.0141773	0.003	0.0072	5008	,	,		8835	0.0		0.0119	False		,,,				2504	0.0511					dbGAP											0													1.0	2.0	2.0					10																	77161112		341	1249	1590	-	-	-	SO:0001819	synonymous_variant	0			AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.66A>C	10.37:g.77161112T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NAC5|Q96E25|Q96IJ0	Silent	SNP	pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.G22	ENST00000372524.4	37	c.66	CCDS7350.1	10																																																																																			ZNF503	-	NULL	ENSG00000165655		0.726	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF503	HGNC	protein_coding	OTTHUMT00000048826.1	13	0.00	0	T	NM_032772		77161112	77161112	-1	no_errors	ENST00000372524	ensembl	human	known	69_37n	silent	8	33.33	4	SNP	0.998	G
