#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_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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCD3	5825	genome.wustl.edu	37	1	94982641	94982641	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:94982641G>A	ENST00000370214.4	+	23	1960	c.1936G>A	c.(1936-1938)Gaa>Aaa	p.E646K	ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Missense_Mutation_p.E536K|ABCD3_ENST00000536817.1_Missense_Mutation_p.E573K|ABCD3_ENST00000454898.2_Missense_Mutation_p.E670K	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	646	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AGGCAACTATGAATTCAAACA	0.348																																																	0													145.0	149.0	148.0					1																	94982641		2203	4299	6502	SO:0001583	missense	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1936G>A	1.37:g.94982641G>A	ENSP00000359233:p.Glu646Lys		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.E670K	ENST00000370214.4	37	c.2008	CCDS749.1	1	.	.	.	.	.	.	.	.	.	.	g	13.07	2.128073	0.37533	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28	5.51	5.51	0.81932	ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	N	0.25380	0.74	0.80722	D	1	B;D;B	0.56035	0.059;0.974;0.018	B;D;B	0.70487	0.016;0.969;0.01	D	0.99958	1.1678	10	0.10377	T	0.69	-20.9894	19.4339	0.94783	0.0:0.0:1.0:0.0	.	670;536;646	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	K	536;670;573;646	ENSP00000377780:E536K;ENSP00000403357:E670K;ENSP00000440692:E573K;ENSP00000359233:E646K	ENSP00000359233:E646K	E	+	1	0	ABCD3	94755229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.739000	0.91574	2.582000	0.87167	0.651000	0.88453	GAA	ABCD3	-	pfscan_ABC_transporter-like,tigrfam_FA_transporter		0.348	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	G	NM_002858		94982641	+1	no_errors	ENST00000454898	ensembl	human	known	70_37	missense	SNP	1.000	A
ADH7	131	genome.wustl.edu	37	4	100349082	100349082	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr4:100349082G>T	ENST00000209665.4	-	5	688	c.448C>A	c.(448-450)Cac>Aac	p.H150N	ADH7_ENST00000437033.2_Missense_Mutation_p.H138N|ADH7_ENST00000482593.1_Missense_Mutation_p.H81N|ADH7_ENST00000476959.1_Missense_Mutation_p.H158N	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	150				HH -> GR (in Ref. 11; AA sequence). {ECO:0000305}.	ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		ATGAAGTGGTGGACTGGTTTG	0.423																																																	0													281.0	214.0	237.0					4																	100349082		2203	4300	6503	SO:0001583	missense	131			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.448C>A	4.37:g.100349082G>T	ENSP00000209665:p.His150Asn		A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.H150N	ENST00000209665.4	37	c.448	CCDS34034.1	4	.	.	.	.	.	.	.	.	.	.	G	11.54	1.670133	0.29693	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959;ENST00000474027	T;T;T;T;T	0.04654	3.58;3.58;3.58;3.58;3.58	4.81	-3.77	0.04346	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.766515	0.12919	N	0.428323	T	0.04182	0.0116	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.19666	0.026	T	0.33033	-0.9884	10	0.87932	D	0	-2.4971	14.565	0.68168	0.444:0.0:0.556:0.0	.	150	P40394	ADH7_HUMAN	N	138;150;81;158;81	ENSP00000414254:H138N;ENSP00000209665:H150N;ENSP00000420613:H81N;ENSP00000420269:H158N;ENSP00000420300:H81N	ENSP00000209665:H150N	H	-	1	0	ADH7	100568105	0.004000	0.15560	0.000000	0.03702	0.064000	0.16182	0.199000	0.17237	-0.851000	0.04147	-1.021000	0.02439	CAC	ADH7	-	pfam_ADH_GroES-like,superfamily_GroES-like		0.423	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	HGNC	protein_coding		G	NM_000673		100349082	-1	no_errors	ENST00000209665	ensembl	human	known	70_37	missense	SNP	0.010	T
AHCTF1	25909	genome.wustl.edu	37	1	247067298	247067298	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:247067298C>T	ENST00000391829.2	-	7	1042	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	AHCTF1_ENST00000366508.1_Missense_Mutation_p.A342T|AHCTF1_ENST00000326225.3_Missense_Mutation_p.A316T			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	307	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTACCAAAGGCCAGCTGCAGC	0.348																																					Colon(145;197 1800 4745 15099 26333)												0													80.0	77.0	78.0					1																	247067298		2203	4300	6503	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.919G>A	1.37:g.247067298C>T	ENSP00000375705:p.Ala307Thr		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.A316T	ENST00000391829.2	37	c.946		1	.	.	.	.	.	.	.	.	.	.	C	34	5.392354	0.95988	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.23147	1.92;1.92;1.92	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.37892	0.1020	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.71674	0.992;0.998	P;P	0.59056	0.847;0.851	T	0.05354	-1.0890	10	0.42905	T	0.14	-5.5402	19.1058	0.93294	0.0:1.0:0.0:0.0	.	342;307	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	T	342;316;307	ENSP00000355464:A342T;ENSP00000355465:A316T;ENSP00000375705:A307T	ENSP00000355465:A316T	A	-	1	0	AHCTF1	245133921	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.298000	0.78815	2.506000	0.84524	0.557000	0.71058	GCC	AHCTF1	-	NULL		0.348	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		C	NM_015446		247067298	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	missense	SNP	1.000	T
ALDH1L1	10840	genome.wustl.edu	37	3	125877305	125877305	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr3:125877305G>T	ENST00000393434.2	-	3	654	c.305C>A	c.(304-306)tCc>tAc	p.S102Y	U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.S112Y|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.S102Y|ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000413612.1_5'Flank|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.S102Y|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.S102Y	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	102	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ATAGATGATGGAGCCATGCCG	0.592																																																	0													78.0	67.0	71.0					3																	125877305		2203	4300	6503	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.305C>A	3.37:g.125877305G>T	ENSP00000377083:p.Ser102Tyr		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.S102Y	ENST00000393434.2	37	c.305	CCDS3034.1	3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990969	0.74703	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000490367;ENST00000460368;ENST00000488356	T;T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	4.84	4.84	0.62591	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.87763	0.6259	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;1.0;0.999	D;D;D;D	0.97110	0.996;0.991;1.0;0.991	D	0.89218	0.3569	10	0.87932	D	0	.	15.4491	0.75259	0.0:0.0:1.0:0.0	.	102;154;9;102	E9PBX3;Q59G10;Q9UFA9;O75891	.;.;.;AL1L1_HUMAN	Y	112;102;102;102;102;102;102;102	ENSP00000273450:S112Y;ENSP00000420293:S102Y;ENSP00000395881:S102Y;ENSP00000377083:S102Y;ENSP00000377081:S102Y;ENSP00000418711:S102Y;ENSP00000419826:S102Y;ENSP00000419955:S102Y	ENSP00000273450:S112Y	S	-	2	0	ALDH1L1	127359995	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	9.265000	0.95647	2.525000	0.85131	0.491000	0.48974	TCC	ALDH1L1	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH		0.592	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L1	HGNC	protein_coding	OTTHUMT00000354391.1	G	NM_012190		125877305	-1	no_errors	ENST00000393434	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGAP36	158763	genome.wustl.edu	37	X	130217839	130217839	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chrX:130217839C>T	ENST00000276211.5	+	4	796	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R139W|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R15W	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	151	Arg-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGGCCGTCGTCGGGGAAACGT	0.632																																																	0													94.0	89.0	91.0					X																	130217839		2203	4300	6503	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.451C>T	X.37:g.130217839C>T	ENSP00000276211:p.Arg151Trp		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R151W	ENST00000276211.5	37	c.451	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231420	0.39399	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000423277;ENST00000412432;ENST00000370921	T;T;T;T	0.14516	2.5;2.5;2.52;2.67	3.57	2.71	0.32032	.	0.000000	0.44902	D	0.000407	T	0.18173	0.0436	N	0.19112	0.55	0.27957	N	0.936925	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.982	T	0.02031	-1.1226	10	0.87932	D	0	.	6.0435	0.19748	0.0:0.8567:0.0:0.1433	.	120;139;151	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	W	151;139;103;120;15	ENSP00000276211:R151W;ENSP00000359960:R139W;ENSP00000408515:R120W;ENSP00000359959:R15W	ENSP00000276211:R151W	R	+	1	2	ARHGAP36	130045520	1.000000	0.71417	0.998000	0.56505	0.173000	0.22820	2.954000	0.49113	0.872000	0.35775	-0.191000	0.12829	CGG	ARHGAP36	-	NULL		0.632	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	C	NM_144967		130217839	+1	no_errors	ENST00000276211	ensembl	human	known	70_37	missense	SNP	0.997	T
ARL14EP	120534	genome.wustl.edu	37	11	30358265	30358265	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr11:30358265C>T	ENST00000282032.3	+	4	921	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	236	Cys-rich.					cytoplasm (GO:0005737)		p.R236S(1)									AGCTGAATGCCGCTGTGACCG	0.453																																																	1	Substitution - Missense(1)	lung(1)											191.0	161.0	171.0					11																	30358265		2202	4299	6501	SO:0001583	missense	120534			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.706C>T	11.37:g.30358265C>T	ENSP00000282032:p.Arg236Cys		Q5HYH9	Missense_Mutation	SNP	NULL	p.R236C	ENST00000282032.3	37	c.706	CCDS7869.1	11	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600342	0.66332	.	.	ENSG00000152219	ENST00000282032	T	0.73681	-0.77	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.86104	0.5853	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87494	0.2429	10	0.87932	D	0	-36.2645	14.4167	0.67155	0.1474:0.8525:0.0:0.0	.	236	Q8N8R7	CK046_HUMAN	C	236	ENSP00000282032:R236C	ENSP00000282032:R236C	R	+	1	0	C11orf46	30314841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.784000	0.62411	2.709000	0.92574	0.655000	0.94253	CGC	ARL14EP	-	NULL		0.453	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL14EP	HGNC	protein_coding	OTTHUMT00000388129.1	C	NM_152316		30358265	+1	no_errors	ENST00000282032	ensembl	human	known	70_37	missense	SNP	1.000	T
ATF7IP	55729	genome.wustl.edu	37	12	14613933	14613933	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr12:14613933C>T	ENST00000540793.1	+	8	2818	c.2663C>T	c.(2662-2664)tCt>tTt	p.S888F	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.S887F|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S887F|ATF7IP_ENST00000544627.1_Missense_Mutation_p.S896F|ATF7IP_ENST00000261168.4_Missense_Mutation_p.S888F			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	888					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ACAAGGACTTCTTTACCCACA	0.458																																																	0													54.0	51.0	52.0					12																	14613933		2203	4300	6503	SO:0001583	missense	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2663C>T	12.37:g.14613933C>T	ENSP00000444589:p.Ser888Phe		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.S888F	ENST00000540793.1	37	c.2663	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366918	0.82463	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.22945	2.08;1.93;2.08;2.08;2.08	6.02	6.02	0.97574	.	0.175900	0.41294	D	0.000915	T	0.48021	0.1477	L	0.56769	1.78	0.53688	D	0.999973	D;D;D;D	0.61080	0.989;0.989;0.989;0.989	D;D;D;D	0.63192	0.912;0.912;0.912;0.912	T	0.10086	-1.0645	9	.	.	.	-15.0096	20.5373	0.99239	0.0:1.0:0.0:0.0	.	887;888;887;499	G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;MCAF1_HUMAN;.;.	F	888;887;887;896;888	ENSP00000261168:S888F;ENSP00000443179:S887F;ENSP00000445955:S887F;ENSP00000440440:S896F;ENSP00000444589:S888F	.	S	+	2	0	ATF7IP	14505200	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.252000	0.65445	2.857000	0.98124	0.650000	0.86243	TCT	ATF7IP	-	NULL		0.458	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	C	NM_018179		14613933	+1	no_errors	ENST00000261168	ensembl	human	known	70_37	missense	SNP	1.000	T
BAI2	576	genome.wustl.edu	37	1	32210276	32210276	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:32210276C>T	ENST00000373658.3	-	5	1236	c.895G>A	c.(895-897)Gag>Aag	p.E299K	BAI2_ENST00000527361.1_Missense_Mutation_p.E299K|BAI2_ENST00000398542.1_Missense_Mutation_p.E287K|BAI2_ENST00000398547.1_Missense_Mutation_p.E287K|BAI2_ENST00000440175.2_5'UTR|BAI2_ENST00000257070.4_Missense_Mutation_p.E299K|BAI2_ENST00000398538.1_Missense_Mutation_p.E287K|BAI2_ENST00000398556.3_Missense_Mutation_p.E302K|BAI2_ENST00000373655.2_Missense_Mutation_p.E299K	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	299					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGCCCAGGCTCATCTGCAGAC	0.632																																																	0													107.0	90.0	96.0					1																	32210276		2203	4300	6503	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.895G>A	1.37:g.32210276C>T	ENSP00000362762:p.Glu299Lys		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.E299K	ENST00000373658.3	37	c.895	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928683	0.73327	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.44482	1.56;1.76;0.96;0.96;1.92;0.92;0.92;0.99;1.53;1.41	4.72	4.72	0.59763	.	0.000000	0.34531	N	0.003881	T	0.47266	0.1436	N	0.24115	0.695	0.80722	D	1	D;D;P;P;B;P	0.55172	0.97;0.968;0.732;0.613;0.104;0.613	P;P;P;B;B;B	0.61201	0.471;0.885;0.458;0.358;0.237;0.358	T	0.47249	-0.9132	10	0.49607	T	0.09	.	14.9787	0.71296	0.0:1.0:0.0:0.0	.	287;299;287;287;299;299	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	K	302;287;299;299;287;299;299;287;292;333	ENSP00000381564:E302K;ENSP00000381555:E287K;ENSP00000362762:E299K;ENSP00000362759:E299K;ENSP00000381550:E287K;ENSP00000257070:E299K;ENSP00000435397:E299K;ENSP00000381548:E287K;ENSP00000410921:E292K;ENSP00000437219:E333K	ENSP00000257070:E299K	E	-	1	0	BAI2	31982863	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.044000	0.57361	2.347000	0.79759	0.313000	0.20887	GAG	BAI2	-	NULL		0.632	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	C	NM_001703		32210276	-1	no_errors	ENST00000373658	ensembl	human	known	70_37	missense	SNP	1.000	T
C19orf47	126526	genome.wustl.edu	37	19	40827897	40827897	+	Silent	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr19:40827897C>T	ENST00000582783.1	-	9	1173	c.1161G>A	c.(1159-1161)agG>agA	p.R387R	C19orf47_ENST00000392035.2_Silent_p.R320R|C19orf47_ENST00000584868.1_Intron	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	387						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CCACCAGAGTCCTCTTAATGG	0.647																																																	0													40.0	37.0	38.0					19																	40827897		2203	4300	6503	SO:0001819	synonymous_variant	126526			AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.1161G>A	19.37:g.40827897C>T			Q8IZ33|Q8N0V9	Silent	SNP	superfamily_SAM/pointed	p.R387	ENST00000582783.1	37	c.1161	CCDS58662.1	19																																																																																			C19orf47	-	NULL		0.647	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf47	HGNC	protein_coding	OTTHUMT00000444488.1	C	NM_178830		40827897	-1	no_errors	ENST00000582783	ensembl	human	known	70_37	silent	SNP	1.000	T
C1orf106	55765	genome.wustl.edu	37	1	200876963	200876963	+	Splice_Site	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:200876963G>A	ENST00000367342.4	+	6	977	c.777G>A	c.(775-777)gaG>gaA	p.E259E	C1orf106_ENST00000413687.2_Splice_Site_p.E174E	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	259										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTTTCGCAGAGCTCAGTGCCT	0.527																																																	0													135.0	123.0	127.0					1																	200876963		2203	4300	6503	SO:0001630	splice_region_variant	55765			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.776-1G>A	1.37:g.200876963G>A			B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	pfam_DUF3338	p.E259	ENST00000367342.4	37	c.777		1																																																																																			C1orf106	-	NULL		0.527	C1orf106-001	KNOWN	basic	protein_coding	C1orf106	HGNC	protein_coding	OTTHUMT00000087057.2	G	NM_018265	Silent	200876963	+1	no_errors	ENST00000367342	ensembl	human	known	70_37	silent	SNP	1.000	A
CD109	135228	genome.wustl.edu	37	6	74517881	74517881	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr6:74517881C>G	ENST00000287097.5	+	26	3377	c.3265C>G	c.(3265-3267)Cta>Gta	p.L1089V	CD109_ENST00000437994.2_Missense_Mutation_p.L1089V|CD109_ENST00000422508.2_Missense_Mutation_p.L1012V			Q6YHK3	CD109_HUMAN	CD109 molecule	1089					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAATTATACTCTAGCCCTTAT	0.378																																																	0													88.0	86.0	87.0					6																	74517881		2203	4300	6503	SO:0001583	missense	135228			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.3265C>G	6.37:g.74517881C>G	ENSP00000287097:p.Leu1089Val		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.L1089V	ENST00000287097.5	37	c.3265	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770403	0.31320	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.38077	1.16;1.16;1.16	4.68	1.87	0.25490	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.000000	0.64402	D	0.000004	T	0.34978	0.0916	L	0.55017	1.72	0.31284	N	0.690228	D;P;P	0.71674	0.998;0.944;0.933	D;P;D	0.72075	0.976;0.79;0.928	T	0.21211	-1.0252	10	0.59425	D	0.04	.	8.5743	0.33590	0.0:0.6401:0.0:0.3599	.	1012;1089;1089	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	V	1089;1012;1089	ENSP00000388062:L1089V;ENSP00000404475:L1012V;ENSP00000287097:L1089V	ENSP00000287097:L1089V	L	+	1	2	CD109	74574602	0.020000	0.18652	0.203000	0.23512	0.322000	0.28314	0.121000	0.15667	0.190000	0.20209	0.650000	0.86243	CTA	CD109	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.378	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3	C	NM_133493		74517881	+1	no_errors	ENST00000287097	ensembl	human	known	70_37	missense	SNP	0.726	G
CD226	10666	genome.wustl.edu	37	18	67563262	67563262	+	Silent	SNP	C	C	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr18:67563262C>A	ENST00000280200.4	-	4	670	c.402G>T	c.(400-402)gtG>gtT	p.V134V	CD226_ENST00000581982.1_5'UTR|CD226_ENST00000582621.1_Silent_p.V134V|CD226_ENST00000577287.1_5'UTR	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	134					cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TATTTGATGGCACAGCTGCCT	0.423																																					NSCLC(184;838 2130 8673 21498 50749)												0													70.0	58.0	62.0					18																	67563262		2203	4300	6503	SO:0001819	synonymous_variant	10666			U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.402G>T	18.37:g.67563262C>A			B2R818	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V134	ENST00000280200.4	37	c.402	CCDS11997.1	18																																																																																			CD226	-	NULL		0.423	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD226	HGNC	protein_coding	OTTHUMT00000256226.3	C	NM_006566		67563262	-1	no_errors	ENST00000280200	ensembl	human	known	70_37	silent	SNP	0.000	A
CENPI	2491	genome.wustl.edu	37	X	100402754	100402754	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chrX:100402754A>G	ENST00000372927.1	+	18	2106	c.1829A>G	c.(1828-1830)tAt>tGt	p.Y610C	CENPI_ENST00000218507.5_Missense_Mutation_p.Y610C|CENPI_ENST00000423383.1_Missense_Mutation_p.Y610C	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	610					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TCTGTTAGATATCGTAAAAAT	0.269																																																	0													60.0	52.0	55.0					X																	100402754		2203	4295	6498	SO:0001583	missense	2491			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1829A>G	X.37:g.100402754A>G	ENSP00000362018:p.Tyr610Cys		Q5JWZ9|Q96ED0	Missense_Mutation	SNP	pfam_Centromere_CenpI	p.Y610C	ENST00000372927.1	37	c.1829	CCDS14479.1	X	.	.	.	.	.	.	.	.	.	.	A	12.85	2.062593	0.36373	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372927	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	M	0.68952	2.095	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79626	-0.1725	9	0.72032	D	0.01	-12.5507	14.0608	0.64800	1.0:0.0:0.0:0.0	.	610;610	B4DZL4;Q92674	.;CENPI_HUMAN	C	610	.	ENSP00000218507:Y610C	Y	+	2	0	CENPI	100289410	1.000000	0.71417	0.991000	0.47740	0.074000	0.17049	6.072000	0.71238	1.852000	0.53769	0.437000	0.28790	TAT	CENPI	-	NULL		0.269	CENPI-004	KNOWN	basic|CCDS	protein_coding	CENPI	HGNC	protein_coding	OTTHUMT00000057519.1	A	NM_006733		100402754	+1	no_errors	ENST00000372927	ensembl	human	known	70_37	missense	SNP	0.997	G
GPSM2	29899	genome.wustl.edu	37	1	109472737	109472737	+	3'UTR	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:109472737G>A	ENST00000406462.2	+	0	3003				CLCC1_ENST00000482889.1_5'UTR|GPSM2_ENST00000264126.3_3'UTR|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000415331.1_3'UTR|CLCC1_ENST00000369969.2_3'UTR|CLCC1_ENST00000356970.2_3'UTR|CLCC1_ENST00000369976.1_3'UTR|CLCC1_ENST00000369971.2_3'UTR|CLCC1_ENST00000369968.2_3'UTR			P81274	GPSM2_HUMAN	G-protein signaling modulator 2						establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GGACATGCGCGTTTGAGGGTG	0.378																																																	0																																										SO:0001624	3_prime_UTR_variant	23155			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.*175G>A	1.37:g.109472737G>A			Q5T1N8|Q6IBL7|Q8N0Z5	RNA	SNP	-	NULL	ENST00000406462.2	37	NULL	CCDS792.2	1																																																																																			CLCC1	-	-		0.378	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCC1	HGNC	protein_coding	OTTHUMT00000032400.3	G	NM_013296		109472737	-1	no_errors	ENST00000473062	ensembl	human	known	70_37	rna	SNP	0.000	A
CNTNAP2	26047	genome.wustl.edu	37	7	147092868	147092868	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr7:147092868G>A	ENST00000361727.3	+	10	2182	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	556	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGCGATCATAGACAGGTAAAT	0.413										HNSCC(39;0.1)																																							0													130.0	115.0	120.0					7																	147092868		2203	4299	6502	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1666G>A	7.37:g.147092868G>A	ENSP00000354778:p.Asp556Asn		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.D556N	ENST00000361727.3	37	c.1666	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994505	0.93167	.	.	ENSG00000174469	ENST00000361727	T	0.76060	-0.99	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.81437	0.4822	L	0.46567	1.45	0.80722	D	1	P	0.52316	0.952	P	0.61722	0.893	T	0.82281	-0.0535	10	0.56958	D	0.05	.	17.4973	0.87722	0.0:0.0:1.0:0.0	.	556	Q9UHC6	CNTP2_HUMAN	N	556	ENSP00000354778:D556N	ENSP00000354778:D556N	D	+	1	0	CNTNAP2	146723801	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	9.321000	0.96353	2.475000	0.83589	0.591000	0.81541	GAC	CNTNAP2	-	pfscan_EG-like_dom		0.413	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	G			147092868	+1	no_errors	ENST00000361727	ensembl	human	known	70_37	missense	SNP	1.000	A
CNTNAP3	79937	genome.wustl.edu	37	9	39149948	39149948	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr9:39149948C>T	ENST00000297668.6	-	10	1577	c.1504G>A	c.(1504-1506)Gga>Aga	p.G502R	CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.G502R|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.G502R|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.G414R	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	502	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTTTTACATCCAGAGCCAGAG	0.478																																																	0													22.0	24.0	23.0					9																	39149948		2200	4297	6497	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1504G>A	9.37:g.39149948C>T	ENSP00000297668:p.Gly502Arg		B1AMA0|Q9C0E9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.G502R	ENST00000297668.6	37	c.1504	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	c	7.346	0.621817	0.14193	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000377659	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	3.1	2.19	0.27852	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.70141	0.3190	L	0.46614	1.455	0.31375	N	0.679748	B;B;B	0.24043	0.016;0.096;0.012	B;B;B	0.33295	0.019;0.161;0.02	T	0.63319	-0.6664	9	0.16420	T	0.52	.	9.1874	0.37178	0.0:0.8867:0.0:0.1133	.	502;502;502	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	R	502;502;414;502	ENSP00000297668:G502R;ENSP00000366884:G502R;ENSP00000350863:G414R;ENSP00000366887:G502R	ENSP00000297668:G502R	G	-	1	0	CNTNAP3	39139948	0.004000	0.15560	0.002000	0.10522	0.069000	0.16628	1.041000	0.30291	0.641000	0.30601	0.460000	0.39030	GGA	CNTNAP3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.478	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	C	NM_033655		39149948	-1	no_errors	ENST00000297668	ensembl	human	known	70_37	missense	SNP	0.229	T
COBLL1	22837	genome.wustl.edu	37	2	165586456	165586456	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr2:165586456C>T	ENST00000392717.2	-	4	518	c.514G>A	c.(514-516)Gat>Aat	p.D172N	COBLL1_ENST00000194871.6_Missense_Mutation_p.D187N|COBLL1_ENST00000342193.4_Missense_Mutation_p.D134N|COBLL1_ENST00000375458.2_Missense_Mutation_p.D134N|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000409184.3_Missense_Mutation_p.D172N			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	172						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTTTTCTTATCCAACATTTTT	0.333																																																	0													155.0	149.0	151.0					2																	165586456		2202	4300	6502	SO:0001583	missense	22837			AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.514G>A	2.37:g.165586456C>T	ENSP00000376478:p.Asp172Asn		A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfscan_WH2_dom	p.D187N	ENST00000392717.2	37	c.559		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.283494|4.283494	0.80803|0.80803	.|.	.|.	ENSG00000082438|ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871;ENST00000456693;ENST00000448708;ENST00000439313;ENST00000444537;ENST00000414843|ENST00000452626	D;D;D;D;D;D;D;D;D;D|.	0.92099|.	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97|.	5.83|5.83	4.95|4.95	0.65309|0.65309	Cordon-bleu domain (1);|.	0.132737|.	0.64402|.	N|.	0.000002|.	T|T	0.73032|0.73032	0.3535|0.3535	M|M	0.69823|0.69823	2.125|2.125	0.50467|0.50467	D|D	0.999871|0.999871	P;P;P|.	0.48230|.	0.907;0.907;0.886|.	P;P;P|.	0.48654|.	0.585;0.585;0.449|.	T|T	0.73372|0.73372	-0.4003|-0.4003	10|5	0.62326|.	D|.	0.03|.	-9.7834|-9.7834	15.2984|15.2984	0.73928|0.73928	0.0:0.9324:0.0:0.0676|0.0:0.9324:0.0:0.0676	.|.	172;187;172|.	Q53SF7;B7Z2P5;Q53SF7-2|.	COBL1_HUMAN;.;.|.	N|E	134;134;172;172;187;109;134;141;156;134|136	ENSP00000364607:D134N;ENSP00000341360:D134N;ENSP00000387326:D172N;ENSP00000376478:D172N;ENSP00000194871:D187N;ENSP00000397520:D109N;ENSP00000406062:D134N;ENSP00000397835:D141N;ENSP00000409237:D156N;ENSP00000387967:D134N|.	ENSP00000194871:D187N|.	D|G	-|-	1|2	0|0	COBLL1|COBLL1	165294702|165294702	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.967000|0.967000	0.64934|0.64934	6.011000|6.011000	0.70760|0.70760	1.469000|1.469000	0.48083|0.48083	0.650000|0.650000	0.86243|0.86243	GAT|GGA	COBLL1	-	pfam_Cordon-bleu_domain		0.333	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	COBLL1	HGNC	protein_coding		C	NM_014900		165586456	-1	no_errors	ENST00000194871	ensembl	human	known	70_37	missense	SNP	1.000	T
CST3	1471	genome.wustl.edu	37	20	23614632	23614632	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr20:23614632G>T	ENST00000398411.1	-	3	444	c.362C>A	c.(361-363)gCa>gAa	p.A121E	CST3_ENST00000376925.3_Missense_Mutation_p.A121E|CST3_ENST00000398409.1_Missense_Mutation_p.A121E|RP11-218C14.8_ENST00000602977.1_lincRNA			P01034	CYTC_HUMAN	cystatin C	121					apoptotic process (GO:0006915)|brain development (GO:0007420)|cell activation (GO:0001775)|cellular response to hydrogen peroxide (GO:0070301)|circadian sleep/wake cycle, REM sleep (GO:0042747)|defense response (GO:0006952)|embryo implantation (GO:0007566)|extracellular fibril organization (GO:0043206)|eye development (GO:0001654)|negative regulation of blood vessel remodeling (GO:0060313)|negative regulation of cell death (GO:0060548)|negative regulation of collagen catabolic process (GO:0010711)|negative regulation of elastin catabolic process (GO:0060311)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extracellular matrix disassembly (GO:0010716)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|regulation of programmed cell death (GO:0043067)|regulation of tissue remodeling (GO:0034103)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient levels (GO:0031667)|response to toxic substance (GO:0009636)|salivary gland development (GO:0007431)|Sertoli cell development (GO:0060009)	basement membrane (GO:0005604)|cell projection (GO:0042995)|contractile fiber (GO:0043292)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)			large_intestine(2)|lung(1)|ovary(1)	4	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					AGAGCAGAATGCTTTCTGTGA	0.537																																																	0													147.0	113.0	125.0					20																	23614632		2203	4300	6503	SO:0001583	missense	1471				CCDS13158.1	20p11.2	2008-04-15	2008-04-15		ENSG00000101439	ENSG00000101439			2475	protein-coding gene	gene with protein product		604312	"""cystatin C (amyloid angiopathy and cerebral hemorrhage)"""			8486384	Standard	NM_000099		Approved		uc002wtn.1	P01034	OTTHUMG00000032080	ENST00000398411.1:c.362C>A	20.37:g.23614632G>T	ENSP00000381448:p.Ala121Glu		B2R5J9|D3DW42|Q6FGW9	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.A121E	ENST00000398411.1	37	c.362	CCDS13158.1	20	.	.	.	.	.	.	.	.	.	.	G	0.453	-0.892836	0.02491	.	.	ENSG00000101439	ENST00000398411;ENST00000376925;ENST00000398409	T;T;T	0.25085	1.82;1.82;1.82	2.97	-1.61	0.08399	Proteinase inhibitor I25, cystatin (2);	0.899798	0.09523	N	0.790669	T	0.08313	0.0207	N	0.02665	-0.54	0.09310	N	1	B	0.21606	0.058	B	0.23716	0.048	T	0.32161	-0.9917	10	0.30078	T	0.28	.	2.5308	0.04703	0.2539:0.0:0.3422:0.4039	.	121	P01034	CYTC_HUMAN	E	121	ENSP00000381448:A121E;ENSP00000366124:A121E;ENSP00000381446:A121E	ENSP00000366124:A121E	A	-	2	0	CST3	23562632	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	0.103000	0.15292	-0.292000	0.08999	-0.350000	0.07774	GCA	CST3	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat		0.537	CST3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CST3	HGNC	protein_coding	OTTHUMT00000256831.1	G	NM_000099		23614632	-1	no_errors	ENST00000376925	ensembl	human	known	70_37	missense	SNP	0.000	T
CTNNA2	1496	genome.wustl.edu	37	2	80773063	80773063	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr2:80773063G>A	ENST00000402739.4	+	10	1420	c.1415G>A	c.(1414-1416)cGg>cAg	p.R472Q	CTNNA2_ENST00000343114.3_Missense_Mutation_p.R151Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R472Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R472Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R472Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R506Q|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R472Q	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	472					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTGGCTGCCCGGCCACAGAGC	0.507																																																	0													52.0	59.0	57.0					2																	80773063		2065	4221	6286	SO:0001583	missense	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1415G>A	2.37:g.80773063G>A	ENSP00000384638:p.Arg472Gln		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R506Q	ENST00000402739.4	37	c.1517		2	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215678	0.58452	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	M	0.64676	1.99	0.50171	D	0.99985	B;B;P;P	0.37158	0.13;0.386;0.585;0.585	B;B;B;B	0.32624	0.01;0.149;0.103;0.094	T	0.30794	-0.9966	9	.	.	.	.	20.2664	0.98460	0.0:0.0:1.0:0.0	.	104;472;472;472	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	Q	472;472;506;472;472;472;151;137	ENSP00000418191:R472Q;ENSP00000419295:R472Q;ENSP00000355398:R506Q;ENSP00000384638:R472Q;ENSP00000444675:R472Q;ENSP00000441705:R472Q;ENSP00000341500:R151Q;ENSP00000386587:R137Q	.	R	+	2	0	CTNNA2	80626574	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	2.595000	0.46197	2.786000	0.95864	0.561000	0.74099	CGG	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.507	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	G	NM_004389		80773063	+1	no_errors	ENST00000361291	ensembl	human	known	70_37	missense	SNP	0.999	A
DCC	1630	genome.wustl.edu	37	18	50866187	50866187	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr18:50866187G>A	ENST00000442544.2	+	15	2885	c.2269G>A	c.(2269-2271)Ggt>Agt	p.G757S	DCC_ENST00000581580.1_Missense_Mutation_p.G412S|DCC_ENST00000412726.1_Missense_Mutation_p.G605S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	757	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGTGGTGCGAGGTTATATTAT	0.488																																																	0													207.0	171.0	183.0					18																	50866187		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.2269G>A	18.37:g.50866187G>A	ENSP00000389140:p.Gly757Ser			Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G757S	ENST00000442544.2	37	c.2269	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538318	0.65085	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.60040	0.22;0.22	5.17	5.17	0.71159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.78978	0.4369	M	0.86178	2.8	0.58432	D	0.999999	D;D;D	0.67145	0.986;0.986;0.996	D;D;D	0.76071	0.978;0.978;0.987	T	0.81609	-0.0855	10	0.56958	D	0.05	.	17.7948	0.88566	0.0:0.0:1.0:0.0	.	605;605;757	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	S	757;690;605	ENSP00000389140:G757S;ENSP00000397322:G605S	ENSP00000304146:G690S	G	+	1	0	DCC	49120185	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.504000	0.97986	2.565000	0.86533	0.655000	0.94253	GGT	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.488	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	G	NM_005215		50866187	+1	no_errors	ENST00000442544	ensembl	human	known	70_37	missense	SNP	1.000	A
DCHS2	54798	genome.wustl.edu	37	4	155411341	155411341	+	Silent	SNP	G	G	A	rs542419101	byFrequency	TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr4:155411341G>A	ENST00000339452.1	-	1	1527	c.1167C>T	c.(1165-1167)ggC>ggT	p.G389G	DCHS2_ENST00000456341.2_Silent_p.G382G|DCHS2_ENST00000443500.1_Silent_p.G389G	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1558	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGGCTCGGCGCCTCCATCGC	0.667													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		12795	0.0		0.0	False		,,,				2504	0.0																0													6.0	8.0	8.0					4																	155411341		664	1539	2203	SO:0001819	synonymous_variant	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.1167C>T	4.37:g.155411341G>A			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G389	ENST00000339452.1	37	c.1167	CCDS47150.1	4																																																																																			DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.667	DCHS2-002	KNOWN	basic|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365282.1	G	NM_001142552		155411341	-1	no_errors	ENST00000339452	ensembl	human	known	70_37	silent	SNP	0.013	A
EGFL6	25975	genome.wustl.edu	37	X	13645279	13645279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chrX:13645279C>T	ENST00000361306.1	+	11	1692	c.1435C>T	c.(1435-1437)Cga>Tga	p.R479*	EGFL6_ENST00000380602.3_Nonsense_Mutation_p.R480*	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	479	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CGGGAAACTTCGAGTGTTTGT	0.473																																																	0													124.0	112.0	116.0					X																	13645279		2203	4300	6503	SO:0001587	stop_gained	25975			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.1435C>T	X.37:g.13645279C>T	ENSP00000355126:p.Arg479*		B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Nonsense_Mutation	SNP	pfam_MAM_dom,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.R480*	ENST00000361306.1	37	c.1438	CCDS14155.1	X	.	.	.	.	.	.	.	.	.	.	C	38	6.911777	0.97928	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	.	.	.	4.85	1.62	0.23740	.	0.173488	0.48767	D	0.000175	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.5499	0.33444	0.3722:0.548:0.0:0.0797	.	.	.	.	X	479;480	.	ENSP00000355126:R479X	R	+	1	2	EGFL6	13555200	0.681000	0.27614	0.998000	0.56505	0.992000	0.81027	0.683000	0.25349	0.302000	0.22762	0.600000	0.82982	CGA	EGFL6	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.473	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EGFL6	HGNC	protein_coding	OTTHUMT00000055800.1	C	NM_015507		13645279	+1	no_errors	ENST00000380602	ensembl	human	known	70_37	nonsense	SNP	0.990	T
LINC01164	399827	genome.wustl.edu	37	10	133608290	133608290	+	Missense_Mutation	SNP	C	C	T	rs35760301		TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr10:133608290C>T	ENST00000341866.3	-	3	674	c.86G>A	c.(85-87)aGc>aAc	p.S29N																								GCTGGCTGGGCTTCTGCACAG	0.667																																																	0																																										SO:0001583	missense	0																														ENST00000341866.3:c.86G>A	10.37:g.133608290C>T	ENSP00000340261:p.Ser29Asn			Missense_Mutation	SNP	NULL	p.S29N	ENST00000341866.3	37	c.86		10	.	.	.	.	.	.	.	.	.	.	C	0.587	-0.834454	0.02713	.	.	ENSG00000189275	ENST00000341866	.	.	.	0.994	-1.99	0.07457	.	.	.	.	.	T	0.28599	0.0708	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34976	-0.9807	5	0.87932	D	0	.	1.9035	0.03273	0.3069:0.4514:0.0:0.2417	.	.	.	.	N	29	.	ENSP00000340261:S29N	S	-	2	0	AL450307.1	133458280	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.585000	0.05794	-0.719000	0.04942	-1.516000	0.00938	AGC	AL450307.1	-	NULL		0.667	AL450307.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000189275	Clone_based_ensembl_gene	protein_coding		C			133608290	-1	no_errors	ENST00000341866	ensembl	human	known	70_37	missense	SNP	0.000	T
Unknown	0	genome.wustl.edu	37	GL000212.1	65483	65483	+	IGR	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chrGL000212.1:65483C>T								None (None upstream) : None (None downstream)																							CTAACGAGGACGCCGCCCAGG	0.647																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.65483C>T				Missense_Mutation	SNP	NULL	p.T411M		37	c.1232		GL000212.1																																																																																			AL356585.1	-	NULL	0	0.647					ENSG00000212857	Clone_based_ensembl_gene			C			65483	+1	no_errors	ENST00000391545	ensembl	human	known	70_37	missense	SNP	NULL	T
ERBB2	2064	genome.wustl.edu	37	17	37884255	37884255	+	Silent	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr17:37884255G>A	ENST00000269571.5	+	27	3885	c.3726G>A	c.(3724-3726)acG>acA	p.T1242T	ERBB2_ENST00000584601.1_Silent_p.T1212T|ERBB2_ENST00000406381.2_Silent_p.T1212T|ERBB2_ENST00000540147.1_Silent_p.T1212T|ERBB2_ENST00000541774.1_Silent_p.T1227T|ERBB2_ENST00000445658.2_Silent_p.T966T|MIEN1_ENST00000474210.1_5'Flank|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584450.1_3'UTR			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1242					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGACACCTACGGCAGAGAACC	0.617		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0																																										SO:0001819	synonymous_variant	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3726G>A	17.37:g.37884255G>A			B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T1242	ENST00000269571.5	37	c.3726	CCDS32642.1	17																																																																																			ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.617	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	G			37884255	+1	no_errors	ENST00000269571	ensembl	human	known	70_37	silent	SNP	0.609	A
FAM127A	8933	genome.wustl.edu	37	X	134166458	134166458	+	Silent	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chrX:134166458G>A	ENST00000257013.7	+	1	126	c.45G>A	c.(43-45)ccG>ccA	p.P15P	FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	O15255	CXX1_HUMAN	family with sequence similarity 127, member A	0						plasma membrane (GO:0005886)				endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					TGGCCTTGCCGATCCGGCCTG	0.647																																																	0													71.0	74.0	73.0					X																	134166458		2102	4173	6275	SO:0001819	synonymous_variant	8933			Y13374	CCDS43997.1	Xq26	2014-05-16	2006-11-16	2006-11-16	ENSG00000134590	ENSG00000134590			2569	protein-coding gene	gene with protein product		300213	"""CAAX box 1"""	CXX1		9403077, 15716091, 16093683	Standard	NM_001078171		Approved	Mart8, Mar8, MAR8C	uc004eyd.3	A6ZKI3	OTTHUMG00000022465	ENST00000257013.7:c.45G>A	X.37:g.134166458G>A			Q6IBF1	Silent	SNP	NULL	p.P15	ENST00000257013.7	37	c.45	CCDS43997.1	X																																																																																			FAM127A	-	NULL		0.647	FAM127A-002	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM127A	HGNC	protein_coding	OTTHUMT00000058391.2	G	NM_001078171		134166458	+1	no_errors	ENST00000257013	ensembl	human	novel	70_37	silent	SNP	0.002	A
MTFR2	113115	genome.wustl.edu	37	6	136560647	136560647	+	Missense_Mutation	SNP	C	C	T	rs141467777		TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr6:136560647C>T	ENST00000420702.1	-	6	1215	c.826G>A	c.(826-828)Gtt>Att	p.V276I	MTFR2_ENST00000451457.2_Missense_Mutation_p.V276I	NM_001099286.1	NP_001092756.1	Q6P444	MTFR2_HUMAN	mitochondrial fission regulator 2	276					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	mitochondrion (GO:0005739)											TCCTTTAGAACGTCCAACATG	0.333																																																	0								C	ILE/VAL,ILE/VAL	0,4406		0,0,2203	124.0	119.0	120.0		826,826	4.5	1.0	6	dbSNP_134	120	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FAM54A	NM_001099286.1,NM_138419.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	276/386,276/386	136560647	1,13005	2203	4300	6503	SO:0001583	missense	113115			BC011716	CCDS5176.1	6q23.2	2012-11-30	2012-11-29	2012-11-29	ENSG00000146410	ENSG00000146410			21115	protein-coding gene	gene with protein product			"""DUF729 domain containing 1"", ""family with sequence similarity 54, member A"""	DUFD1, FAM54A			Standard	NM_138419		Approved		uc003qgt.1	Q6P444	OTTHUMG00000015643	ENST00000420702.1:c.826G>A	6.37:g.136560647C>T	ENSP00000395232:p.Val276Ile		A8K8D8|E1P585|Q5JWR7|Q6ZUE8|Q7L3U6|Q9BZ39	Missense_Mutation	SNP	pfam_Mtfr1	p.V276I	ENST00000420702.1	37	c.826	CCDS5176.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.83|15.83	2.948070|2.948070	0.53186|0.53186	0.0|0.0	1.16E-4|1.16E-4	ENSG00000146410|ENSG00000146410	ENST00000532958|ENST00000451457;ENST00000420702;ENST00000418509	.|T;T;T	.|0.47869	.|0.83;0.83;0.83	5.4|5.4	4.53|4.53	0.55603|0.55603	.|.	.|0.058887	.|0.64402	.|N	.|0.000002	T|T	0.21841|0.21841	0.0526|0.0526	N|N	0.25825|0.25825	0.765|0.765	0.44825|0.44825	D|D	0.997834|0.997834	.|P	.|0.48016	.|0.904	.|B	.|0.42798	.|0.398	T|T	0.02829|0.02829	-1.1105|-1.1105	5|10	.|0.36615	.|T	.|0.2	-23.3649|-23.3649	11.515|11.515	0.50515|0.50515	0.0:0.915:0.0:0.085|0.0:0.915:0.0:0.085	.|.	.|276	.|Q6P444	.|FA54A_HUMAN	H|I	13|276;276;233	.|ENSP00000407010:V276I;ENSP00000395232:V276I;ENSP00000410861:V233I	.|ENSP00000410861:V233I	R|V	-|-	2|1	0|0	FAM54A|FAM54A	136602340|136602340	0.968000|0.968000	0.33430|0.33430	0.998000|0.998000	0.56505|0.56505	0.974000|0.974000	0.67602|0.67602	2.045000|2.045000	0.41250|0.41250	1.278000|1.278000	0.44430|0.44430	0.557000|0.557000	0.71058|0.71058	CGT|GTT	FAM54A	-	pfam_Mtfr1		0.333	MTFR2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM54A	HGNC	protein_coding	OTTHUMT00000042378.2	C	NM_138419		136560647	-1	no_errors	ENST00000420702	ensembl	human	known	70_37	missense	SNP	1.000	T
FBXW7	55294	genome.wustl.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	465			R -> C (in a acute lymphoblastic leukemia cell line). {ECO:0000269|PubMed:11565033}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	99	Substitution - Missense(98)|Unknown(1)	haematopoietic_and_lymphoid_tissue(41)|large_intestine(27)|endometrium(20)|stomach(6)|biliary_tract(4)|pancreas(1)											260.0	223.0	235.0					4																	153249385		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1393C>T	4.37:g.153249385G>A	ENSP00000281708:p.Arg465Cys		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R465C	ENST00000281708.4	37	c.1393	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909959	0.92107	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	6.05	6.05	0.98169	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.67130	-0.5748	10	0.87932	D	0	-17.2313	20.6013	0.99457	0.0:0.0:1.0:0.0	.	289;465;347;385	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	C	465;347;385;289	ENSP00000281708:R465C;ENSP00000296555:R347C;ENSP00000263981:R385C;ENSP00000377528:R289C	ENSP00000263981:R385C	R	-	1	0	FBXW7	153468835	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	CGT	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153249385	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	A
FLNA	2316	genome.wustl.edu	37	X	153585975	153585975	+	Missense_Mutation	SNP	G	G	A	rs372729831		TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chrX:153585975G>A	ENST00000369850.3	-	29	5008	c.4772C>T	c.(4771-4773)cCg>cTg	p.P1591L	FLNA_ENST00000360319.4_Missense_Mutation_p.P1591L|FLNA_ENST00000422373.1_Missense_Mutation_p.P1591L|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000344736.4_Missense_Mutation_p.P1591L	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1591	Interaction with furin. {ECO:0000250}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGTCTTCTTCGGCTTGCCTTC	0.622																																																	0								G	LEU/PRO,LEU/PRO	1,3767		0,1,1598,570	131.0	129.0	130.0		4772,4772	5.2	1.0	X		130	0,6650		0,0,2407,1836	no	missense,missense	FLNA	NM_001110556.1,NM_001456.3	98,98	0,1,4005,2406	AA,AG,GG,G		0.0,0.0265,0.0096	probably-damaging,probably-damaging	1591/2648,1591/2640	153585975	1,10417	2169	4243	6412	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.4772C>T	X.37:g.153585975G>A	ENSP00000358866:p.Pro1591Leu		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.P1591L	ENST00000369850.3	37	c.4772	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710006	0.68730	2.65E-4	0.0	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.22	5.22	0.72569	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.066716	0.64402	D	0.000013	D	0.91727	0.7384	M	0.67625	2.065	0.80722	D	1	P;D	0.89917	0.742;1.0	B;D	0.87578	0.262;0.998	D	0.92520	0.6024	10	0.72032	D	0.01	.	18.1785	0.89769	0.0:0.0:1.0:0.0	.	1591;1591	P21333-2;P21333	.;FLNA_HUMAN	L	1591;1564;1591;1591;1591	ENSP00000353467:P1591L;ENSP00000416926:P1591L;ENSP00000358866:P1591L;ENSP00000358863:P1591L	ENSP00000358863:P1591L	P	-	2	0	FLNA	153239169	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	9.779000	0.99018	2.317000	0.78254	0.529000	0.55759	CCG	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.622	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	G			153585975	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	missense	SNP	1.000	A
FSIP2	401024	genome.wustl.edu	37	2	186603605	186603606	+	5'Flank	INS	-	-	G	rs397871016|rs35617283	byFrequency	TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr2:186603605_186603606insG	ENST00000424728.1	+	0	0				AC007966.1_ENST00000437717.1_RNA|AC007966.1_ENST00000421998.1_RNA|AC007966.1_ENST00000427269.2_RNA|FSIP2_ENST00000343098.5_Frame_Shift_Ins_p.EG84fs			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAAGGGGCTGAGGGGGCTGTGC	0.688													GGGGGG|GGGGG|GGGGGG|deletion	1695	0.338458	0.292	0.3559	5008	,	,		12864	0.4127		0.3628	False		,,,				2504	0.2873																0																																										SO:0001631	upstream_gene_variant	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874		2.37:g.186603610_186603610dupG	Exception_encountered		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Frame_Shift_Ins	INS	NULL	p.A86fs	ENST00000424728.1	37	c.251_252		2																																																																																			FSIP2	-	NULL		0.688	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	-	NM_173651		186603606	+1	no_errors	ENST00000343098	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	G
GAS2L3	283431	genome.wustl.edu	37	12	100994246	100994246	+	Silent	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr12:100994246C>T	ENST00000539410.1	+	3	491	c.105C>T	c.(103-105)taC>taT	p.Y35Y	GAS2L3_ENST00000266754.5_Silent_p.Y35Y|GAS2L3_ENST00000537247.1_5'UTR|GAS2L3_ENST00000547754.1_Silent_p.Y35Y			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	35					actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TTTGTCAGTACGATGAGTGGA	0.443																																																	0													184.0	163.0	170.0					12																	100994246		2203	4300	6503	SO:0001819	synonymous_variant	283431			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	ENST00000539410.1:c.105C>T	12.37:g.100994246C>T			B2RCN2	Silent	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.Y35	ENST00000539410.1	37	c.105	CCDS9079.1	12																																																																																			GAS2L3	-	NULL		0.443	GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L3	HGNC	protein_coding	OTTHUMT00000409143.1	C	NM_174942		100994246	+1	no_errors	ENST00000266754	ensembl	human	known	70_37	silent	SNP	1.000	T
GID4	79018	genome.wustl.edu	37	17	17960241	17960241	+	Intron	SNP	A	A	G	rs372837776		TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr17:17960241A>G	ENST00000268719.4	+	4	779				GID4_ENST00000376345.3_Silent_p.P277P	NM_024052.4	NP_076957.3	Q8IVV7	GID4_HUMAN	GID complex subunit 4																		CCAGGTTCCCACGTGGGACTC	0.458																																																	0																																										SO:0001627	intron_variant	79018			AK127580	CCDS11190.1	17p11.2	2013-07-31	2013-07-31	2012-07-20	ENSG00000141034	ENSG00000141034			28453	protein-coding gene	gene with protein product	"""vacuolar import and degradation 24"""		"""chromosome 17 open reading frame 39"", ""GID complex subunit 4, VID24 homolog (S. cerevisiae)"""	C17orf39		11997338	Standard	NM_024052		Approved	VID24	uc002gsg.1	Q8IVV7	OTTHUMG00000059398	ENST00000268719.4:c.607-1941A>G	17.37:g.17960241A>G			Q8TEB5|Q9BW50	Silent	SNP	pfam_Vacuolar_import/degrad_Vid24	p.P277	ENST00000268719.4	37	c.831	CCDS11190.1	17																																																																																			GID4	-	NULL		0.458	GID4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GID4	HGNC	protein_coding	OTTHUMT00000132071.2	A	NM_024052		17960241	+1	no_errors	ENST00000376345	ensembl	human	novel	70_37	silent	SNP	0.000	G
GP6	51206	genome.wustl.edu	37	19	55543646	55543646	+	Silent	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr19:55543646C>T	ENST00000417454.1	-	3	213	c.186G>A	c.(184-186)ctG>ctA	p.L62L	CTC-550B14.7_ENST00000586961.1_RNA|GP6_ENST00000310373.3_Silent_p.L62L|GP6_ENST00000333884.2_Silent_p.L62L|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	62	Ig-like C2-type 1.				blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		TGCTGGAACTCAGCTTCTCCA	0.642																																																	0													57.0	62.0	60.0					19																	55543646		1976	4152	6128	SO:0001819	synonymous_variant	51206			AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.186G>A	19.37:g.55543646C>T			Q9HCN7|Q9UIF2	Silent	SNP	smart_Ig_sub,smart_Ig_sub2	p.L62	ENST00000417454.1	37	c.186	CCDS46184.1	19																																																																																			GP6	-	smart_Ig_sub,smart_Ig_sub2		0.642	GP6-001	KNOWN	basic|CCDS	protein_coding	GP6	HGNC	protein_coding	OTTHUMT00000357006.1	C			55543646	-1	no_errors	ENST00000310373	ensembl	human	known	70_37	silent	SNP	0.032	T
GPR125	166647	genome.wustl.edu	37	4	22437053	22437053	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr4:22437053G>A	ENST00000334304.5	-	10	1593	c.1324C>T	c.(1324-1326)Cga>Tga	p.R442*	GPR125_ENST00000502482.1_Nonsense_Mutation_p.R442*|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Nonsense_Mutation_p.R216*	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	442					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGTAACTGTCGAGCTGTTGCC	0.383																																																	0													82.0	76.0	78.0					4																	22437053		2203	4300	6503	SO:0001587	stop_gained	166647			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1324C>T	4.37:g.22437053G>A	ENSP00000334952:p.Arg442*		Q6UXK9|Q86SQ5|Q8TC55	Nonsense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.R442*	ENST00000334304.5	37	c.1324	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.636911	0.96693	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	.	.	.	5.6	3.66	0.41972	.	0.056730	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-35.2494	15.1745	0.72901	0.0:0.0:0.6497:0.3503	.	.	.	.	X	442;216;442	.	ENSP00000334952:R442X	R	-	1	2	GPR125	22046151	0.972000	0.33761	0.984000	0.44739	0.973000	0.67179	2.506000	0.45433	1.329000	0.45376	0.563000	0.77884	CGA	GPR125	-	NULL		0.383	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	G			22437053	-1	no_errors	ENST00000334304	ensembl	human	known	70_37	nonsense	SNP	0.990	A
GPR126	57211	genome.wustl.edu	37	6	142691670	142691670	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr6:142691670G>C	ENST00000230173.6	+	4	1285	c.809G>C	c.(808-810)aGa>aCa	p.R270T	GPR126_ENST00000367608.2_Missense_Mutation_p.R270T|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000296932.8_Missense_Mutation_p.R270T|GPR126_ENST00000367609.3_Missense_Mutation_p.R270T	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	270	Pentaxin.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AATTTCAAAAGAAACTATGAA	0.348																																																	0													102.0	102.0	102.0					6																	142691670		1808	4066	5874	SO:0001583	missense	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.809G>C	6.37:g.142691670G>C	ENSP00000230173:p.Arg270Thr		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_CUB,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB,superfamily_ConA-like_lec_gl_sf,smart_CUB,smart_Pentaxin,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.R270T	ENST00000230173.6	37	c.809	CCDS47490.1	6	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990545	0.35131	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.36	2.58	0.30949	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.373597	0.26816	N	0.022347	T	0.30727	0.0774	L	0.51422	1.61	0.20703	N	0.999861	B;B;B;B	0.29232	0.2;0.2;0.2;0.238	B;B;B;B	0.34590	0.117;0.117;0.117;0.186	T	0.19257	-1.0311	10	0.36615	T	0.2	.	7.6181	0.28169	0.4047:0.0:0.5953:0.0	.	270;270;270;270	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	T	270	ENSP00000230173:R270T;ENSP00000356580:R270T;ENSP00000296932:R270T;ENSP00000356581:R270T	ENSP00000230173:R270T	R	+	2	0	GPR126	142733363	0.461000	0.25783	0.932000	0.37286	0.976000	0.68499	0.686000	0.25392	0.629000	0.30376	0.650000	0.86243	AGA	GPR126	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin		0.348	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	HGNC	protein_coding	OTTHUMT00000042487.2	G			142691670	+1	no_errors	ENST00000367609	ensembl	human	known	70_37	missense	SNP	0.899	C
GSTZ1	2954	genome.wustl.edu	37	14	77797494	77797494	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr14:77797494C>T	ENST00000556627.1	+	8	657	c.526C>T	c.(526-528)Cac>Tac	p.H176Y	GSTZ1_ENST00000557639.1_Missense_Mutation_p.H148Y|GSTZ1_ENST00000349555.3_Missense_Mutation_p.H161Y|GSTZ1_ENST00000361389.4_Missense_Mutation_p.H148Y|GSTZ1_ENST00000557053.1_Missense_Mutation_p.H106Y|GSTZ1_ENST00000554279.1_Missense_Mutation_p.H189Y|GSTZ1_ENST00000216465.5_Missense_Mutation_p.H203Y|GSTZ1_ENST00000393734.1_Missense_Mutation_p.H148Y|GSTZ1_ENST00000553586.1_Missense_Mutation_p.H204Y			O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	203	GST C-terminal.				cellular nitrogen compound metabolic process (GO:0034641)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|L-phenylalanine catabolic process (GO:0006559)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|maleylacetoacetate isomerase activity (GO:0016034)|protein homodimerization activity (GO:0042803)			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	CCAGGTGTCTCACCCCTGCCG	0.597																																																	0													71.0	64.0	66.0					14																	77797494		2203	4300	6503	SO:0001583	missense	2954			U86529	CCDS9858.1, CCDS9859.1, CCDS9860.1	14q24.3	2012-06-22	2012-06-22		ENSG00000100577	ENSG00000100577	5.2.1.2, 2.5.1.18	"""Glutathione S-transferases / Soluble"""	4643	protein-coding gene	gene with protein product	"""maleylacetoacetate isomerase"""	603758	"""glutathione transferase zeta 1"""			9396740, 9417084	Standard	NM_001513		Approved	GSTZ1-1, MAAI, MAI	uc001xtj.3	O43708	OTTHUMG00000171551	ENST00000556627.1:c.526C>T	14.37:g.77797494C>T	ENSP00000450487:p.His176Tyr		A6NED0|A6NNB8|A8MWD7|B2RCK3|O15308|O75430|Q6IB17|Q7Z610|Q9BV63	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,tigrfam_Mal_ac_isom	p.H203Y	ENST00000556627.1	37	c.607		14	.	.	.	.	.	.	.	.	.	.	C	22.6	4.311832	0.81358	.	.	ENSG00000100577	ENST00000216465;ENST00000361389;ENST00000554279;ENST00000557639;ENST00000349555;ENST00000556627;ENST00000557053;ENST00000393734;ENST00000553586	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.48	5.48	0.80851	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70325	0.3211	M	0.91249	3.19	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.68943	0.961;0.952	T	0.74266	-0.3721	10	0.39692	T	0.17	2.1128	16.2646	0.82568	0.0:1.0:0.0:0.0	.	161;203	A6NED0;O43708	.;MAAI_HUMAN	Y	203;148;189;148;161;176;106;148;204	ENSP00000216465:H203Y;ENSP00000354959:H148Y;ENSP00000452498:H189Y;ENSP00000451927:H148Y;ENSP00000314404:H161Y;ENSP00000450487:H176Y;ENSP00000451150:H106Y;ENSP00000377335:H148Y;ENSP00000451976:H204Y	ENSP00000216465:H203Y	H	+	1	0	GSTZ1	76867247	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.702000	0.68332	2.568000	0.86640	0.563000	0.77884	CAC	GSTZ1	-	superfamily_Glutathione-S-Trfase_C-like,tigrfam_Mal_ac_isom		0.597	GSTZ1-012	NOVEL	basic|exp_conf	protein_coding	GSTZ1	HGNC	protein_coding	OTTHUMT00000414090.1	C	NM_145870		77797494	+1	no_errors	ENST00000216465	ensembl	human	known	70_37	missense	SNP	1.000	T
HCFC1	3054	genome.wustl.edu	37	X	153227013	153227014	+	In_Frame_Ins	INS	-	-	TGT			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chrX:153227013_153227014insTGT	ENST00000310441.7	-	6	1849_1850	c.883_884insACA	c.(883-885)acg>aACAcg	p.294_295insN	HCFC1_ENST00000354233.3_In_Frame_Ins_p.294_295insN|HCFC1_ENST00000461098.1_Intron|HCFC1_ENST00000369984.4_In_Frame_Ins_p.294_295insN	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	294					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACAAGCCAGCGTGTTGGTACAC	0.599																																																	0																																										SO:0001652	inframe_insertion	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.881_883dupACA	X.37:g.153227014_153227016dupTGT	ENSP00000309555:p.Asn294_Asn294dup		Q6P4G5	In_Frame_Ins	INS	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.295in_frame_insN	ENST00000310441.7	37	c.884_883	CCDS44020.1	X																																																																																			HCFC1	-	pfam_Kelch_1		0.599	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	-	NM_005334		153227014	-1	no_errors	ENST00000310441	ensembl	human	known	70_37	in_frame_ins	INS	0.997:1.000	TGT
HLA-A	3105	genome.wustl.edu	37	6	29910553	29910556	+	Frame_Shift_Del	DEL	TTTC	TTTC	-	rs199474351|rs199474352|rs386698549		TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	TTTC	TTTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr6:29910553_29910556delTTTC	ENST00000396634.1	+	4	434_437	c.93_96delTTTC	c.(91-96)tatttcfs	p.YF31fs	HLA-A_ENST00000376806.5_Frame_Shift_Del_p.YF31fs|HLA-A_ENST00000376802.2_Frame_Shift_Del_p.YF31fs|HLA-A_ENST00000376809.5_Frame_Shift_Del_p.YF31fs			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	31	Alpha-1.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCATGAGGTATTTCTTCACATCCG	0.725									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																																							0																																										SO:0001589	frameshift_variant	3105	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.93_96delTTTC	6.37:g.29910553_29910556delTTTC	ENSP00000379873:p.Tyr31fs		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Frame_Shift_Del	DEL	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.F32fs	ENST00000396634.1	37	c.93_96	CCDS34373.1	6																																																																																			HLA-A	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.725	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-A	HGNC	protein_coding	OTTHUMT00000252909.1	TTTC	NM_002116		29910556	+1	no_errors	ENST00000376806	ensembl	human	known	70_37	frame_shift_del	DEL	0.268:0.270:0.216:0.061	-
ITGB6	3694	genome.wustl.edu	37	2	160998513	160998513	+	Silent	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr2:160998513G>A	ENST00000283249.2	-	8	1324	c.1087C>T	c.(1087-1089)Ctg>Ttg	p.L363L	ITGB6_ENST00000409967.2_Silent_p.L363L|ITGB6_ENST00000428609.2_Silent_p.L321L|ITGB6_ENST00000409872.1_Silent_p.L363L|ITGB6_ENST00000485635.1_5'UTR	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	363	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GAGATGATCAGCTGGAGAATG	0.358																																																	0													77.0	68.0	71.0					2																	160998513		2203	4300	6503	SO:0001819	synonymous_variant	3694				CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1087C>T	2.37:g.160998513G>A			B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Silent	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.L363	ENST00000283249.2	37	c.1087	CCDS2212.1	2																																																																																			ITGB6	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu		0.358	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB6	HGNC	protein_coding	OTTHUMT00000255036.1	G	NM_000888		160998513	-1	no_errors	ENST00000283249	ensembl	human	known	70_37	silent	SNP	1.000	A
KIAA1614	57710	genome.wustl.edu	37	1	180913548	180913548	+	Silent	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:180913548G>A	ENST00000367588.4	+	8	3238	c.3183G>A	c.(3181-3183)cgG>cgA	p.R1061R	KIAA1614_ENST00000367587.1_Silent_p.R682R|KIAA1614_ENST00000461346.1_3'UTR|RP11-46A10.5_ENST00000358073.2_RNA	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1061	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						ACCAGCGTCGGAAAGCTGCCT	0.577																																																	0													69.0	73.0	71.0					1																	180913548		1995	4166	6161	SO:0001819	synonymous_variant	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3183G>A	1.37:g.180913548G>A			Q5VZ45|Q9HCF8	Silent	SNP	NULL	p.R1061	ENST00000367588.4	37	c.3183	CCDS41442.1	1																																																																																			KIAA1614	-	NULL		0.577	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1614	HGNC	protein_coding	OTTHUMT00000085151.1	G	XM_046531		180913548	+1	no_errors	ENST00000367588	ensembl	human	known	70_37	silent	SNP	1.000	A
KIAA1958	158405	genome.wustl.edu	37	9	115380184	115380184	+	Intron	SNP	A	A	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr9:115380184A>T	ENST00000337530.6	+	3	1467				KIAA1958_ENST00000374244.3_Missense_Mutation_p.E402V|KIAA1958_ENST00000536272.1_Missense_Mutation_p.E402V	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958											endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CTCAGCAGGGAGCAGAACGAG	0.507																																																	0																																										SO:0001627	intron_variant	158405			AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1172-27746A>T	9.37:g.115380184A>T			B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	pfam_DUF3504,superfamily_Integrase_Lambda-type_N	p.E402V	ENST00000337530.6	37	c.1205	CCDS35108.1	9	.	.	.	.	.	.	.	.	.	.	A	15.22	2.769910	0.49680	.	.	ENSG00000165185	ENST00000374244;ENST00000536272	T;T	0.44482	0.92;0.92	5.56	5.56	0.83823	.	0.420216	0.24508	N	0.037909	T	0.65883	0.2734	.	.	.	0.53688	D	0.99997	D	0.71674	0.998	D	0.73708	0.981	T	0.69128	-0.5227	9	0.59425	D	0.04	-25.7831	16.0147	0.80427	1.0:0.0:0.0:0.0	.	402	B7ZKW6	.	V	402	ENSP00000363362:E402V;ENSP00000440504:E402V	ENSP00000363362:E402V	E	+	2	0	KIAA1958	114420005	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.080000	0.76837	2.237000	0.73441	0.460000	0.39030	GAG	KIAA1958	-	NULL		0.507	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	KIAA1958	HGNC	protein_coding	OTTHUMT00000053690.1	A	NM_133465		115380184	+1	no_errors	ENST00000536272	ensembl	human	known	70_37	missense	SNP	1.000	T
LETM1	3954	genome.wustl.edu	37	4	1824750	1824750	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr4:1824750G>A	ENST00000302787.2	-	9	1737	c.1441C>T	c.(1441-1443)Cgt>Tgt	p.R481C		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	481					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCCTTCTCACGGTGCTCCTGC	0.672																																																	0													63.0	59.0	61.0					4																	1824750		2203	4300	6503	SO:0001583	missense	3954			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1441C>T	4.37:g.1824750G>A	ENSP00000305653:p.Arg481Cys		B4DED2|Q9UF65	Missense_Mutation	SNP	pfam_LETM1,pfscan_EF_HAND_2	p.R481C	ENST00000302787.2	37	c.1441	CCDS3355.1	4	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822582	0.32237	.	.	ENSG00000168924	ENST00000302787	.	.	.	4.78	0.49	0.16861	.	1.003210	0.08032	N	0.993711	T	0.33933	0.0880	L	0.54323	1.7	0.19775	N	0.999954	D	0.63046	0.992	B	0.40534	0.332	T	0.35176	-0.9799	9	0.59425	D	0.04	-7.3955	11.5509	0.50721	0.0:0.2553:0.62:0.1247	.	481	O95202	LETM1_HUMAN	C	481	.	ENSP00000305653:R481C	R	-	1	0	LETM1	1794548	0.071000	0.21146	0.041000	0.18516	0.148000	0.21650	0.711000	0.25764	0.052000	0.16007	0.491000	0.48974	CGT	LETM1	-	NULL		0.672	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETM1	HGNC	protein_coding	OTTHUMT00000241634.1	G			1824750	-1	no_errors	ENST00000302787	ensembl	human	known	70_37	missense	SNP	0.004	A
LINC00623	728855	genome.wustl.edu	37	1	149581062	149581062	+	RNA	SNP	G	G	A	rs200727473		TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:149581062G>A	ENST00000598569.1	+	0	539																											TTTGTAAAAAGAAAAAAAAAA	0.274																																																	0																																												728855																															1.37:g.149581062G>A				RNA	SNP	-	NULL	ENST00000598569.1	37	NULL		1																																																																																			RP11-353N4.6	-	-		0.274	RP11-353N4.6-002	KNOWN	basic	processed_transcript	LINC00623	Clone_based_vega_gene	pseudogene	OTTHUMT00000462966.1	G			149581062	+1	no_errors	ENST00000598569	ensembl	human	known	70_37	rna	SNP	0.000	A
LINC00654	149837	genome.wustl.edu	37	20	5480027	5480027	+	lincRNA	SNP	T	T	G			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr20:5480027T>G	ENST00000379053.4	-	0	2798				RP5-1022P6.7_ENST00000587737.1_lincRNA	NR_015406.1				long intergenic non-protein coding RNA 654																		ATGAACAATGTCATAGCACTC	0.353																																																	0																																												149837			BC067900		20p12.3	2012-10-12			ENSG00000205181	ENSG00000205181		"""Long non-coding RNAs"""	27154	non-coding RNA	RNA, long non-coding							Standard	NR_015406		Approved		uc002wmc.4		OTTHUMG00000031810		20.37:g.5480027T>G				RNA	SNP	-	NULL	ENST00000379053.4	37	NULL		20																																																																																			LINC00654	-	-		0.353	LINC00654-001	KNOWN	basic	lincRNA	LINC00654	HGNC	lincRNA	OTTHUMT00000077878.3	T	NR_015406		5480027	-1	no_errors	ENST00000379053	ensembl	human	known	70_37	rna	SNP	0.000	G
LRRC8D	55144	genome.wustl.edu	37	1	90400768	90400768	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:90400768C>T	ENST00000337338.5	+	3	2548	c.2141C>T	c.(2140-2142)tCt>tTt	p.S714F	LRRC8D_ENST00000394593.3_Missense_Mutation_p.S714F	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	714					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CTTTATTTCTCTAACAACAAG	0.338																																																	0													69.0	73.0	72.0					1																	90400768		2203	4299	6502	SO:0001583	missense	55144			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2141C>T	1.37:g.90400768C>T	ENSP00000338887:p.Ser714Phe		D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S714F	ENST00000337338.5	37	c.2141	CCDS726.1	1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553361	0.65425	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.12569	2.67;2.67	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.34454	0.0898	M	0.79011	2.435	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.01468	-1.1347	9	.	.	.	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	714	Q7L1W4	LRC8D_HUMAN	F	714	ENSP00000338887:S714F;ENSP00000378093:S714F	.	S	+	2	0	LRRC8D	90173356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	TCT	LRRC8D	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.338	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8D	HGNC	protein_coding	OTTHUMT00000029203.2	C	NM_018103		90400768	+1	no_errors	ENST00000337338	ensembl	human	known	70_37	missense	SNP	1.000	T
MAPKAPK5	8550	genome.wustl.edu	37	12	112327921	112327921	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr12:112327921G>C	ENST00000551404.2	+	13	1408	c.1300G>C	c.(1300-1302)Gat>Cat	p.D434H	MAPKAPK5_ENST00000550735.2_Missense_Mutation_p.D432H			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	434					activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						ACTCCTAAGAGATACTCTGCA	0.428																																																	0													62.0	60.0	61.0					12																	112327921		1899	4121	6020	SO:0001583	missense	8550			AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.1300G>C	12.37:g.112327921G>C	ENSP00000449381:p.Asp434His		B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D434H	ENST00000551404.2	37	c.1300	CCDS44975.1	12	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029076	0.93518	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000551404;ENST00000552111;ENST00000547067	T;T	0.56941	0.43;0.43	5.86	5.86	0.93980	.	0.040721	0.85682	D	0.000000	T	0.51924	0.1703	N	0.19112	0.55	0.80722	D	1	D;P;P	0.56521	0.976;0.7;0.801	P;B;P	0.50708	0.648;0.264;0.452	T	0.55016	-0.8206	10	0.59425	D	0.04	.	20.1854	0.98212	0.0:0.0:1.0:0.0	.	428;434;432	C9J458;Q8IW41;Q8IW41-2	.;MAPK5_HUMAN;.	H	432;434;432;434;115;95	ENSP00000449667:D432H;ENSP00000449381:D434H	ENSP00000202788:D434H	D	+	1	0	MAPKAPK5	110812304	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	9.471000	0.97696	2.772000	0.95346	0.585000	0.79938	GAT	MAPKAPK5	-	NULL		0.428	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPKAPK5	HGNC	protein_coding	OTTHUMT00000405019.2	G	NM_139078		112327921	+1	no_errors	ENST00000202788	ensembl	human	known	70_37	missense	SNP	1.000	C
MPO	4353	genome.wustl.edu	37	17	56357796	56357796	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr17:56357796G>A	ENST00000225275.3	-	2	355	c.179C>T	c.(178-180)tCg>tTg	p.S60L	MPO_ENST00000340482.3_Missense_Mutation_p.S60L|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	60					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CAGCACCAACGAGGTGTCCAC	0.647																																																	0													52.0	46.0	48.0					17																	56357796		2203	4300	6503	SO:0001583	missense	4353				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.179C>T	17.37:g.56357796G>A	ENSP00000225275:p.Ser60Leu		A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.S60L	ENST00000225275.3	37	c.179	CCDS11604.1	17	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545121	0.45280	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.71934	-0.61;-0.5	5.57	4.6	0.57074	.	0.593663	0.14924	N	0.290472	T	0.61362	0.2341	L	0.52905	1.665	0.09310	N	0.999997	P	0.40332	0.713	B	0.34242	0.178	T	0.61402	-0.7070	10	0.66056	D	0.02	-8.9805	8.0671	0.30667	0.0792:0.0:0.7618:0.159	.	60	P05164	PERM_HUMAN	L	60	ENSP00000344419:S60L;ENSP00000225275:S60L	ENSP00000225275:S60L	S	-	2	0	MPO	53712795	0.388000	0.25197	0.674000	0.29902	0.446000	0.32137	3.701000	0.54793	2.618000	0.88619	0.561000	0.74099	TCG	MPO	-	NULL		0.647	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	HGNC	protein_coding	OTTHUMT00000443971.1	G			56357796	-1	no_errors	ENST00000340482	ensembl	human	known	70_37	missense	SNP	0.026	A
MUC4	4585	genome.wustl.edu	37	3	195506473	195506473	+	Missense_Mutation	SNP	A	A	G	rs201922637	byFrequency	TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr3:195506473A>G	ENST00000463781.3	-	2	12437	c.11978T>C	c.(11977-11979)gTa>gCa	p.V3993A	MUC4_ENST00000475231.1_Missense_Mutation_p.V3993A|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGT	0.592													.|||	1598	0.319089	0.6029	0.2147	5008	,	,		8683	0.0952		0.3479	False		,,,				2504	0.2106																0													10.0	7.0	8.0					3																	195506473		636	1378	2014	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11978T>C	3.37:g.195506473A>G	ENSP00000417498:p.Val3993Ala		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.V3993A	ENST00000463781.3	37	c.11978	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	N	0.517	-0.863910	0.02590	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35605	1.44;1.3	0.481	-0.963	0.10330	.	0.000000	0.24912	N	0.034619	T	0.13030	0.0316	N	0.08118	0	0.80722	P	0.0	B	0.14805	0.011	B	0.06405	0.002	T	0.21655	-1.0239	8	.	.	.	.	3.3255	0.07066	0.247:0.2672:0.4857:0.0	.	3865	E7ESK3	.	A	3993	ENSP00000417498:V3993A;ENSP00000420243:V3993A	.	V	-	2	0	MUC4	196991252	0.000000	0.05858	0.000000	0.03702	0.143000	0.21401	-0.813000	0.04491	-1.477000	0.01872	0.055000	0.15244	GTA	MUC4	-	NULL		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	A	NM_018406		195506473	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.000	G
NFYB	4801	genome.wustl.edu	37	12	104514219	104514219	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr12:104514219G>C	ENST00000240055.3	-	7	777	c.550C>G	c.(550-552)Caa>Gaa	p.Q184E	NFYB_ENST00000551727.1_Missense_Mutation_p.Q184E	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	184	C domain.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTTTGTTGTTGACCGTCTGTG	0.343																																																	0													258.0	254.0	255.0					12																	104514219		2203	4300	6503	SO:0001583	missense	4801				CCDS9098.1	12q22-q23	2008-11-11				ENSG00000120837			7805	protein-coding gene	gene with protein product		189904				1774067, 9612081	Standard	NM_006166		Approved	CBF-A, HAP3, NF-YB	uc001tkl.1	P25208	OTTHUMG00000170176	ENST00000240055.3:c.550C>G	12.37:g.104514219G>C	ENSP00000240055:p.Gln184Glu		A8K7B9|Q96IY8	Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold,prints_Transcrpt_fac_CBFA/NFYB_topo	p.Q184E	ENST00000240055.3	37	c.550	CCDS9098.1	12	.	.	.	.	.	.	.	.	.	.	.	16.91	3.253346	0.59212	.	.	ENSG00000120837	ENST00000240055;ENST00000551727	T;T	0.45668	0.89;0.89	5.36	4.47	0.54385	Histone-fold (1);	0.049583	0.85682	D	0.000000	T	0.37625	0.1010	M	0.67953	2.075	0.58432	D	0.999998	P	0.39216	0.664	B	0.26864	0.074	T	0.31052	-0.9957	10	0.33940	T	0.23	-19.3961	15.6252	0.76851	0.0:0.0:0.8614:0.1385	.	184	P25208	NFYB_HUMAN	E	184	ENSP00000240055:Q184E;ENSP00000447486:Q184E	ENSP00000240055:Q184E	Q	-	1	0	NFYB	103038349	1.000000	0.71417	0.985000	0.45067	0.957000	0.61999	7.530000	0.81962	1.283000	0.44513	-0.234000	0.12200	CAA	NFYB	-	superfamily_Histone-fold		0.343	NFYB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFYB	HGNC	protein_coding	OTTHUMT00000407786.1	G			104514219	-1	no_errors	ENST00000240055	ensembl	human	known	70_37	missense	SNP	1.000	C
NLRP12	91662	genome.wustl.edu	37	19	54308691	54308691	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr19:54308691G>A	ENST00000324134.6	-	5	2425	c.2257C>T	c.(2257-2259)Cgc>Tgc	p.R753C	NLRP12_ENST00000391775.3_Missense_Mutation_p.R753C|NLRP12_ENST00000351894.4_Missense_Mutation_p.R753C|NLRP12_ENST00000391773.1_Missense_Mutation_p.R754C|NLRP12_ENST00000391772.1_Missense_Mutation_p.R754C|NLRP12_ENST00000345770.5_Missense_Mutation_p.R754C|NLRP12_ENST00000354278.3_Missense_Mutation_p.R753C|NLRP12_ENST00000535162.1_Missense_Mutation_p.R753C	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	753					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTGGAGATGCGGCACCTCTTC	0.468																																																	0													78.0	79.0	79.0					19																	54308691		2203	4300	6503	SO:0001583	missense	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.2257C>T	19.37:g.54308691G>A	ENSP00000319377:p.Arg753Cys		A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R753C	ENST00000324134.6	37	c.2257	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	G	8.124	0.781563	0.16120	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000358661;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6	3.12	-4.21	0.03812	.	.	.	.	.	T	0.39118	0.1066	L	0.53561	1.675	0.09310	N	1	B;B;B;B;B	0.20780	0.006;0.048;0.003;0.011;0.003	B;B;B;B;B	0.15870	0.003;0.014;0.002;0.002;0.002	T	0.29488	-1.0010	9	0.37606	T	0.19	.	4.3534	0.11167	0.4361:0.1673:0.3967:0.0	.	754;36;753;753;753	F2Z321;P59046-5;A8K407;A8MTQ2;P59046	.;.;.;.;NAL12_HUMAN	C	753;753;753;753;36;753;754;754;754	ENSP00000319377:R753C;ENSP00000438030:R753C;ENSP00000340473:R753C;ENSP00000346231:R753C;ENSP00000375655:R753C;ENSP00000375653:R754C;ENSP00000375652:R754C	ENSP00000319377:R753C	R	-	1	0	NLRP12	59000503	0.000000	0.05858	0.006000	0.13384	0.442000	0.32017	-1.827000	0.01704	-0.818000	0.04329	-0.920000	0.02741	CGC	NLRP12	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.468	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	G	NM_144687		54308691	-1	no_errors	ENST00000324134	ensembl	human	known	70_37	missense	SNP	0.001	A
NOTCH1	4851	genome.wustl.edu	37	9	139399191	139399191	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr9:139399191G>A	ENST00000277541.6	-	26	5027	c.4952C>T	c.(4951-4953)tCg>tTg	p.S1651L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1651					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGGAGCAGCGAGGCCTTCAC	0.736			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													5.0	6.0	6.0					9																	139399191		1791	3832	5623	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4952C>T	9.37:g.139399191G>A	ENSP00000277541:p.Ser1651Leu		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.S1651L	ENST00000277541.6	37	c.4952	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485181	0.26598	.	.	ENSG00000148400	ENST00000277541	D	0.81821	-1.54	4.11	2.13	0.27403	.	0.479090	0.22457	U	0.059804	T	0.60314	0.2259	N	0.14661	0.345	0.19300	N	0.999977	P	0.35307	0.494	B	0.30495	0.116	T	0.49969	-0.8882	10	0.35671	T	0.21	.	7.7851	0.29087	0.0942:0.1646:0.7412:0.0	.	1651	P46531	NOTC1_HUMAN	L	1651	ENSP00000277541:S1651L	ENSP00000277541:S1651L	S	-	2	0	NOTCH1	138519012	0.013000	0.17824	0.004000	0.12327	0.259000	0.26198	1.551000	0.36233	0.168000	0.19655	0.579000	0.79373	TCG	NOTCH1	-	pirsf_Notch		0.736	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	G	NM_017617		139399191	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	0.005	A
NRG3	10718	genome.wustl.edu	37	10	83635529	83635529	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr10:83635529G>A	ENST00000404547.1	+	1	433	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372141.2_Missense_Mutation_p.A145T|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000556918.1_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	145	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		cgccGGGGGTGCCGCCTCCTC	0.701																																																	0													29.0	39.0	36.0					10																	83635529		2198	4297	6495	SO:0001583	missense	10718			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.433G>A	10.37:g.83635529G>A	ENSP00000384796:p.Ala145Thr		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.A145T	ENST00000404547.1	37	c.433	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607591	0.28623	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.32988	1.43;1.44	2.94	2.01	0.26516	.	0.203527	0.23180	U	0.051024	T	0.11793	0.0287	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.11591	-1.0581	10	0.15066	T	0.55	-16.715	5.172	0.15114	0.1641:0.0:0.8359:0.0	.	145;145	B9EGV5;P56975-4	.;.	T	145	ENSP00000361214:A145T;ENSP00000384796:A145T	ENSP00000361214:A145T	A	+	1	0	NRG3	83625509	0.236000	0.23804	0.998000	0.56505	0.616000	0.37450	1.282000	0.33226	1.651000	0.50673	0.478000	0.44815	GCC	NRG3	-	NULL		0.701	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	G	XM_166086		83635529	+1	no_errors	ENST00000404547	ensembl	human	known	70_37	missense	SNP	1.000	A
NTRK3	4916	genome.wustl.edu	37	15	88576247	88576247	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr15:88576247C>T	ENST00000360948.2	-	13	1587	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	NTRK3_ENST00000542733.2_Missense_Mutation_p.D378N|NTRK3_ENST00000357724.2_Missense_Mutation_p.D468N|NTRK3_ENST00000355254.2_Missense_Mutation_p.D476N|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000540489.2_Missense_Mutation_p.D476N|NTRK3_ENST00000317501.3_Missense_Mutation_p.D476N|NTRK3_ENST00000558676.1_Missense_Mutation_p.D468N|NTRK3_ENST00000394480.2_Missense_Mutation_p.D476N|NTRK3_ENST00000557856.1_Missense_Mutation_p.D468N	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	476					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGGCTGAGTCCTCCTCACCA	0.622			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	0													83.0	51.0	62.0					15																	88576247		2201	4298	6499	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1426G>A	15.37:g.88576247C>T	ENSP00000354207:p.Asp476Asn		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D476N	ENST00000360948.2	37	c.1426	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.134244	0.94517	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.74106	-0.81;-0.76;-0.72;-0.81;-0.69;-0.22;-0.22	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.85526	0.5717	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D;D	0.89917	0.991;0.988;0.991;1.0;0.993;0.996	P;P;D;D;P;D	0.83275	0.734;0.761;0.937;0.996;0.88;0.937	D	0.86949	0.2084	10	0.56958	D	0.05	.	16.3963	0.83605	0.0:1.0:0.0:0.0	.	378;468;468;476;476;476	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	N	476;476;468;476;378;476;476	ENSP00000377990:D476N;ENSP00000354207:D476N;ENSP00000350356:D468N;ENSP00000347397:D476N;ENSP00000437773:D378N;ENSP00000444673:D476N;ENSP00000318328:D476N	ENSP00000318328:D476N	D	-	1	0	NTRK3	86377251	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.455000	0.66658	2.329000	0.79093	0.650000	0.86243	GAC	NTRK3	-	NULL		0.622	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		C			88576247	-1	no_errors	ENST00000360948	ensembl	human	known	70_37	missense	SNP	1.000	T
OR4C3	256144	genome.wustl.edu	37	11	48347444	48347444	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr11:48347444G>A	ENST00000319856.4	+	1	973	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	291						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(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAGAAATGAAGAGGTAAAAAA	0.323																																																	0													60.0	62.0	62.0					11																	48347444		2201	4298	6499	SO:0001583	missense	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.952G>A	11.37:g.48347444G>A	ENSP00000321419:p.Glu318Lys		B2RNF2|Q6IFB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E318K	ENST00000319856.4	37	c.952	CCDS31489.1	11	.	.	.	.	.	.	.	.	.	.	G	23.0	4.360710	0.82353	.	.	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.38077	1.16	5.97	5.05	0.67936	.	0.000000	0.52532	D	0.000066	T	0.55049	0.1896	M	0.81682	2.555	0.36166	D	0.848415	P	0.46706	0.883	P	0.52424	0.698	T	0.70085	-0.4969	10	0.87932	D	0	.	14.9596	0.71147	0.0:0.1437:0.8563:0.0	.	291	Q8NH37	OR4C3_HUMAN	K	318;181	ENSP00000321419:E318K	ENSP00000321419:E318K	E	+	1	0	OR4C3	48304020	1.000000	0.71417	0.657000	0.29651	0.934000	0.57294	6.960000	0.76036	1.515000	0.48885	0.561000	0.74099	GAG	OR4C3	-	prints_GPCR_Rhodpsn		0.323	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C3	HGNC	protein_coding	OTTHUMT00000390557.1	G	NM_001004702		48347444	+1	no_errors	ENST00000319856	ensembl	human	known	70_37	missense	SNP	0.993	A
PCDHGA2	56113	genome.wustl.edu	37	5	140720212	140720212	+	Silent	SNP	C	C	T	rs150000282	byFrequency	TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr5:140720212C>T	ENST00000394576.2	+	1	1674	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCGCCCGAGA	0.622																																																	0								C	,,	1,4405		0,1,2202	158.0	158.0	158.0		,1674,1674	-6.3	0.0	5	dbSNP_134	158	2,8598		0,2,4298	no	intron,coding-synonymous,coding-synonymous	PCDHGA2,PCDHGA1	NM_018912.2,NM_018915.2,NM_032009.1	,,	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	,,	,558/933,558/824	140720212	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1674C>T	5.37:g.140720212C>T			Q52LL6|Q9Y5D5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N558	ENST00000394576.2	37	c.1674	CCDS47289.1	5																																																																																			PCDHGA2	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.622	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	C	NM_018915		140720212	+1	no_errors	ENST00000394576	ensembl	human	known	70_37	silent	SNP	0.003	T
PCSK6	5046	genome.wustl.edu	37	15	101858545	101858545	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr15:101858545G>A	ENST00000348070.1	-	20	2544	c.2545C>T	c.(2545-2547)Cac>Tac	p.H849Y	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.H836Y	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	850	CRM (Cys-rich motif).				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCGCAGGTGTGATGGCATTCC	0.592																																																	0													48.0	52.0	51.0					15																	101858545		2087	4173	6260	SO:0001583	missense	5046				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.2545C>T	15.37:g.101858545G>A	ENSP00000305056:p.His849Tyr		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.H849Y	ENST00000348070.1	37	c.2545		15	.	.	.	.	.	.	.	.	.	.	G	14.64	2.595661	0.46318	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185	T;T	0.62105	0.05;0.05	5.35	1.95	0.26073	Growth factor, receptor (2);	0.990465	0.08214	N	0.980172	T	0.37999	0.1024	N	0.02368	-0.58	0.80722	D	1	P;P;P;P;B	0.50272	0.734;0.837;0.933;0.795;0.404	B;B;P;B;B	0.47206	0.091;0.129;0.541;0.388;0.158	T	0.16571	-1.0398	10	0.36615	T	0.2	-4.2226	2.9148	0.05749	0.3452:0.2304:0.4244:0.0	.	850;681;837;850;836	P29122;Q59H04;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.	Y	849;836;680	ENSP00000305056:H849Y;ENSP00000351193:H836Y	ENSP00000305056:H849Y	H	-	1	0	PCSK6	99676068	0.885000	0.30320	0.872000	0.34217	0.937000	0.57800	0.645000	0.24782	0.590000	0.29694	0.462000	0.41574	CAC	PCSK6	-	superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EG-like_dom		0.592	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding		G	NM_002570		101858545	-1	no_errors	ENST00000348070	ensembl	human	known	70_37	missense	SNP	0.983	A
PHACTR4	65979	genome.wustl.edu	37	1	28696259	28696259	+	5'UTR	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:28696259G>A	ENST00000373839.3	+	0	146				PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4						actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGGCTGCTGCCTGGCGGCC	0.667																																																	0													3.0	3.0	3.0					1																	28696259		770	1792	2562	SO:0001623	5_prime_UTR_variant	65979			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.-116G>A	1.37:g.28696259G>A			A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	RNA	SNP	-	NULL	ENST00000373839.3	37	NULL	CCDS41293.1	1																																																																																			PHACTR4	-	-		0.667	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHACTR4	HGNC	protein_coding	OTTHUMT00000009868.4	G	NM_023923		28696259	+1	no_errors	ENST00000463428	ensembl	human	known	70_37	rna	SNP	0.004	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	A			178952085	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	G
PTPN4	5775	genome.wustl.edu	37	2	120702698	120702698	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr2:120702698C>G	ENST00000263708.2	+	16	2168	c.1397C>G	c.(1396-1398)cCa>cGa	p.P466R	PTPN4_ENST00000544261.1_Missense_Mutation_p.P99R	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	466					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CCAGCTTTACCACCCAAACAG	0.353																																																	0													71.0	75.0	73.0					2																	120702698		2203	4300	6503	SO:0001583	missense	5775				CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.1397C>G	2.37:g.120702698C>G	ENSP00000263708:p.Pro466Arg		B2RBV8|Q9UDA7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.P466R	ENST00000263708.2	37	c.1397	CCDS2129.1	2	.	.	.	.	.	.	.	.	.	.	C	18.96	3.732993	0.69189	.	.	ENSG00000088179	ENST00000263708;ENST00000544261;ENST00000431283	T;T;T	0.71103	-0.54;2.99;0.92	5.2	5.2	0.72013	.	0.049583	0.85682	D	0.000000	T	0.77598	0.4154	L	0.34521	1.04	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	T	0.73959	-0.3818	10	0.27082	T	0.32	.	19.1079	0.93303	0.0:1.0:0.0:0.0	.	466	P29074	PTN4_HUMAN	R	466;99;92	ENSP00000263708:P466R;ENSP00000445841:P99R;ENSP00000387457:P92R	ENSP00000263708:P466R	P	+	2	0	PTPN4	120419168	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.609000	0.74173	2.566000	0.86566	0.655000	0.94253	CCA	PTPN4	-	pirsf_Tyr_Pase_non-rcpt_typ-3/4		0.353	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN4	HGNC	protein_coding	OTTHUMT00000254233.2	C			120702698	+1	no_errors	ENST00000263708	ensembl	human	known	70_37	missense	SNP	1.000	G
RAD51B	5890	genome.wustl.edu	37	14	68290309	68290309	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr14:68290309G>T	ENST00000487270.1	+	2	97	c.49G>T	c.(49-51)Gac>Tac	p.D17Y	RAD51B_ENST00000471583.1_Missense_Mutation_p.D17Y|RAD51B_ENST00000390683.3_Missense_Mutation_p.D17Y|RAD51B_ENST00000487861.1_Missense_Mutation_p.D17Y|RAD51B_ENST00000488612.1_Missense_Mutation_p.D17Y	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	17	Interaction with RAD51C.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGAGCTGTGTGACCGTCTGAG	0.348								Direct reversal of damage																																									0													130.0	121.0	124.0					14																	68290309		2203	4300	6503	SO:0001583	missense	5890			U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.49G>T	14.37:g.68290309G>T	ENSP00000419471:p.Asp17Tyr		O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.D17Y	ENST00000487270.1	37	c.49	CCDS9789.1	14	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090817	0.76756	.	.	ENSG00000182185	ENST00000487861;ENST00000471583;ENST00000487270;ENST00000488612;ENST00000485181;ENST00000553334;ENST00000390683;ENST00000402498;ENST00000342389	T;T;T;T;T;T;T	0.56275	0.91;0.91;0.91;0.91;0.91;0.47;0.91	5.49	5.49	0.81192	.	0.138830	0.47455	D	0.000226	T	0.48077	0.1480	N	0.24115	0.695	0.40454	D	0.980177	D;P;P;P;P;B	0.57571	0.98;0.898;0.895;0.906;0.771;0.377	P;P;P;P;B;B	0.47705	0.543;0.45;0.555;0.459;0.431;0.382	T	0.54807	-0.8238	10	0.87932	D	0	.	16.641	0.85127	0.0:0.0:1.0:0.0	.	17;17;17;17;17;17	C9JYJ0;C9JSP9;O15315-4;O15315;O15315-1;O15315-2	.;.;.;RA51B_HUMAN;.;.	Y	17	ENSP00000419881:D17Y;ENSP00000418859:D17Y;ENSP00000419471:D17Y;ENSP00000420061:D17Y;ENSP00000417948:D17Y;ENSP00000452044:D17Y;ENSP00000375101:D17Y	ENSP00000343531:D17Y	D	+	1	0	RAD51B	67360062	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.319000	0.59197	2.727000	0.93392	0.563000	0.77884	GAC	RAD51B	-	superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like		0.348	RAD51B-004	KNOWN	basic|CCDS	protein_coding	RAD51B	HGNC	protein_coding	OTTHUMT00000349063.1	G			68290309	+1	no_errors	ENST00000487270	ensembl	human	known	70_37	missense	SNP	1.000	T
RAD51B	5890	genome.wustl.edu	37	14	68290317	68290317	+	Silent	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr14:68290317G>A	ENST00000487270.1	+	2	105	c.57G>A	c.(55-57)ctG>ctA	p.L19L	RAD51B_ENST00000471583.1_Silent_p.L19L|RAD51B_ENST00000390683.3_Silent_p.L19L|RAD51B_ENST00000487861.1_Silent_p.L19L|RAD51B_ENST00000488612.1_Silent_p.L19L	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	19	Interaction with RAD51C.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTGACCGTCTGAGTAGACATC	0.348								Direct reversal of damage																																									0													123.0	115.0	117.0					14																	68290317		2203	4300	6503	SO:0001819	synonymous_variant	5890			U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000487270.1:c.57G>A	14.37:g.68290317G>A			O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Silent	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.L19	ENST00000487270.1	37	c.57	CCDS9789.1	14																																																																																			RAD51B	-	superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like		0.348	RAD51B-004	KNOWN	basic|CCDS	protein_coding	RAD51B	HGNC	protein_coding	OTTHUMT00000349063.1	G			68290317	+1	no_errors	ENST00000487270	ensembl	human	known	70_37	silent	SNP	0.852	A
RASGRP3	25780	genome.wustl.edu	37	2	33736799	33736799	+	5'UTR	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr2:33736799C>T	ENST00000403687.3	+	0	503				RASGRP3_ENST00000407811.1_5'Flank|RASGRP3_ENST00000402538.3_5'UTR	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)						MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ACTTATCATTCAGGTTGAATA	0.368																																																	0																																										SO:0001623	5_prime_UTR_variant	25780			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.-238C>T	2.37:g.33736799C>T			D6W583|O94931|Q53SD7	RNA	SNP	-	NULL	ENST00000403687.3	37	NULL	CCDS46256.1	2																																																																																			RASGRP3	-	-		0.368	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RASGRP3	HGNC	protein_coding	OTTHUMT00000325462.2	C	NM_015376		33736799	+1	no_errors	ENST00000497723	ensembl	human	known	70_37	rna	SNP	0.000	T
RGS3	5998	genome.wustl.edu	37	9	116263868	116263868	+	Intron	SNP	C	C	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr9:116263868C>A	ENST00000374140.2	+	11	1106				RGS3_ENST00000394646.3_Missense_Mutation_p.F4L|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.F4L|RGS3_ENST00000317613.6_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGAACCGCTTCAATGGGCTCT	0.672																																																	0													36.0	30.0	32.0					9																	116263868		2189	4272	6461	SO:0001627	intron_variant	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.897+3508C>A	9.37:g.116263868C>A			A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.F4L	ENST00000374140.2	37	c.12	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209398	0.79240	.	.	ENSG00000138835	ENST00000343817;ENST00000394646	T;T	0.60797	0.63;0.16	5.24	5.24	0.73138	.	.	.	.	.	T	0.39911	0.1096	N	0.03608	-0.345	0.80722	D	1	B;B	0.32245	0.275;0.361	B;B	0.35655	0.052;0.207	T	0.50792	-0.8786	9	0.72032	D	0.01	.	16.3403	0.83080	0.0:1.0:0.0:0.0	.	4;4	B3KUB2;P49796-4	.;.	L	4	ENSP00000340284:F4L;ENSP00000378141:F4L	ENSP00000340284:F4L	F	+	3	2	RGS3	115303689	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.910000	0.56371	2.612000	0.88384	0.563000	0.77884	TTC	RGS3	-	NULL		0.672	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	C	NM_017790		116263868	+1	no_errors	ENST00000343817	ensembl	human	known	70_37	missense	SNP	1.000	A
ROS1	6098	genome.wustl.edu	37	6	117710546	117710546	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr6:117710546G>A	ENST00000368508.3	-	12	1924	c.1726C>T	c.(1726-1728)Caa>Taa	p.Q576*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.Q585*|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	576	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGCTTCCATTGAACAAGAGCC	0.567			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													74.0	79.0	77.0					6																	117710546		2203	4300	6503	SO:0001587	stop_gained	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1726C>T	6.37:g.117710546G>A	ENSP00000357494:p.Gln576*		Q15368|Q5TDB5	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q576*	ENST00000368508.3	37	c.1726	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	G	38	7.232577	0.98154	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.4	4.34	0.51931	.	0.818306	0.10974	N	0.613520	.	.	.	.	.	.	0.50313	D	0.999866	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	7.0823	0.25237	0.0993:0.0:0.7138:0.1869	.	.	.	.	X	576;585	.	ENSP00000357493:Q585X	Q	-	1	0	ROS1	117817239	0.920000	0.31207	0.998000	0.56505	0.643000	0.38383	0.852000	0.27764	2.518000	0.84900	0.655000	0.94253	CAA	ROS1	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.567	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	G			117710546	-1	no_errors	ENST00000368508	ensembl	human	known	70_37	nonsense	SNP	0.748	A
SCUBE2	57758	genome.wustl.edu	37	11	9055196	9055196	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr11:9055196G>T	ENST00000309263.3	-	16	2135	c.2063C>A	c.(2062-2064)gCt>gAt	p.A688D	SCUBE2_ENST00000520467.1_Intron|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000457346.2_Missense_Mutation_p.A717D|SCUBE2_ENST00000450649.2_Missense_Mutation_p.A562D			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	688						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CATATTCCAAGCTTCTGGGGT	0.458																																																	0													190.0	196.0	194.0					11																	9055196		2201	4296	6497	SO:0001583	missense	57758			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.2063C>A	11.37:g.9055196G>T	ENSP00000310658:p.Ala688Asp		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.A717D	ENST00000309263.3	37	c.2150		11	.	.	.	.	.	.	.	.	.	.	G	28.4	4.914275	0.92178	.	.	ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649	T;T;T	0.21932	1.98;1.98;1.98	5.44	5.44	0.79542	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.240220	0.42420	D	0.000714	T	0.53126	0.1777	M	0.91663	3.23	0.51767	D	0.999937	P;P	0.50369	0.934;0.911	P;P	0.58780	0.532;0.845	T	0.63791	-0.6557	10	0.87932	D	0	.	18.0353	0.89301	0.0:0.0:1.0:0.0	.	562;688	Q9NQ36-3;Q9NQ36	.;SCUB2_HUMAN	D	717;688;562	ENSP00000390481:A717D;ENSP00000310658:A688D;ENSP00000415187:A562D	ENSP00000310658:A688D	A	-	2	0	SCUBE2	9011772	1.000000	0.71417	0.970000	0.41538	0.957000	0.61999	7.382000	0.79729	2.561000	0.86390	0.563000	0.77884	GCT	SCUBE2	-	pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt		0.458	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	G	NM_020974		9055196	-1	no_errors	ENST00000457346	ensembl	human	known	70_37	missense	SNP	1.000	T
SCGB1D1	10648	genome.wustl.edu	37	11	61959649	61959649	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr11:61959649G>T	ENST00000306238.3	+	2	246	c.177G>T	c.(175-177)aaG>aaT	p.K59N		NM_006552.1	NP_006543.1	O95968	SG1D1_HUMAN	secretoglobin, family 1D, member 1	59						extracellular space (GO:0005615)	protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	9						TTGCAGCCAAGATGGAAGTGA	0.418																																																	0													142.0	136.0	138.0					11																	61959649		2202	4299	6501	SO:0001583	missense	10648			AJ224171	CCDS8015.1	11q13	2011-12-14			ENSG00000168515	ENSG00000168515		"""Secretoglobins"""	18395	protein-coding gene	gene with protein product	"""prostatein-like lipophilin A"", ""lipophilin A (uteroglobin family member)"""	615060				9720917, 10066439, 22155607	Standard	NM_006552		Approved	LPHA, LIPA, MGC71958	uc001nsz.1	O95968	OTTHUMG00000167505	ENST00000306238.3:c.177G>T	11.37:g.61959649G>T	ENSP00000303070:p.Lys59Asn			Missense_Mutation	SNP	pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin	p.K59N	ENST00000306238.3	37	c.177	CCDS8015.1	11	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417537	0.42918	.	.	ENSG00000168515	ENST00000306238	T	0.15718	2.4	3.88	-6.33	0.01988	.	0.432551	0.16062	U	0.231409	T	0.19846	0.0477	.	.	.	0.09310	N	1	D	0.59357	0.985	P	0.58130	0.833	T	0.01771	-1.1277	9	0.46703	T	0.11	.	3.5894	0.07983	0.5883:0.122:0.1669:0.1228	.	59	O95968	SG1D1_HUMAN	N	59	ENSP00000303070:K59N	ENSP00000303070:K59N	K	+	3	2	SCGB1D1	61716225	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-2.085000	0.01362	-1.581000	0.01642	0.655000	0.94253	AAG	SCGB1D1	-	pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin		0.418	SCGB1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB1D1	HGNC	protein_coding	OTTHUMT00000394856.1	G	NM_006552		61959649	+1	no_errors	ENST00000306238	ensembl	human	known	70_37	missense	SNP	0.000	T
SEC14L1	6397	genome.wustl.edu	37	17	75205475	75205475	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr17:75205475G>A	ENST00000413679.2	+	14	1831	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	SEC14L1_ENST00000430767.4_Missense_Mutation_p.E510K|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E510K|SEC14L1_ENST00000443798.4_Missense_Mutation_p.E510K|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E510K|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E510K|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E476K|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E476K	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	510					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CCGGACTGCAGAGGAGCTGGA	0.547																																																	0													84.0	70.0	75.0					17																	75205475		2203	4300	6503	SO:0001583	missense	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1528G>A	17.37:g.75205475G>A	ENSP00000394716:p.Glu510Lys		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.E510K	ENST00000413679.2	37	c.1528	CCDS11752.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.474463	0.96291	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.71579	-0.46;-0.46;-0.46;-0.46;-0.46;-0.58	5.48	5.48	0.80851	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80433	0.4622	M	0.76574	2.34	0.80722	D	1	P;P;P	0.50528	0.895;0.936;0.895	P;P;P	0.53954	0.652;0.738;0.652	T	0.80004	-0.1564	10	0.40728	T	0.16	-48.8744	18.3308	0.90268	0.0:0.0:1.0:0.0	.	510;510;510	A5PLM6;Q92503-2;Q92503	.;.;S14L1_HUMAN	K	510;510;510;510;510;476	ENSP00000376268:E510K;ENSP00000406030:E510K;ENSP00000390392:E510K;ENSP00000408169:E510K;ENSP00000394716:E510K;ENSP00000389838:E476K	ENSP00000376268:E510K	E	+	1	0	SEC14L1	72717070	1.000000	0.71417	0.954000	0.39281	0.940000	0.58332	9.375000	0.97178	2.553000	0.86117	0.655000	0.94253	GAG	SEC14L1	-	superfamily_CRAL-TRIO_dom		0.547	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	HGNC	protein_coding	OTTHUMT00000436240.1	G	NM_003003		75205475	+1	no_errors	ENST00000392476	ensembl	human	known	70_37	missense	SNP	1.000	A
SERPINC1	462	genome.wustl.edu	37	1	173876634	173876634	+	Missense_Mutation	SNP	C	C	T	rs201541724		TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:173876634C>T	ENST00000367698.3	-	6	1290	c.1172G>A	c.(1171-1173)cGa>cAa	p.R391Q		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	391			R -> Q.		blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	GAGGTCATCTCGGCCTTCTGC	0.468																																																	0													236.0	218.0	224.0					1																	173876634		2203	4300	6503	SO:0001583	missense	462			X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1172G>A	1.37:g.173876634C>T	ENSP00000356671:p.Arg391Gln		B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.R391Q	ENST00000367698.3	37	c.1172	CCDS1313.1	1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336234	0.41398	.	.	ENSG00000117601	ENST00000367698	D	0.82433	-1.61	5.98	3.8	0.43715	Serpin domain (3);	1.675390	0.03281	N	0.186194	T	0.61627	0.2362	L	0.31371	0.925	0.28694	N	0.904434	B	0.18461	0.028	B	0.04013	0.001	T	0.46105	-0.9215	10	0.27082	T	0.32	.	12.1488	0.54038	0.1236:0.8044:0.0:0.072	.	391	P01008	ANT3_HUMAN	Q	391	ENSP00000356671:R391Q	ENSP00000356671:R391Q	R	-	2	0	SERPINC1	172143257	0.008000	0.16893	0.584000	0.28653	0.162000	0.22319	0.940000	0.28992	1.554000	0.49487	0.650000	0.86243	CGA	SERPINC1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.468	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINC1	HGNC	protein_coding	OTTHUMT00000090734.1	C	NM_000488		173876634	-1	no_errors	ENST00000367698	ensembl	human	known	70_37	missense	SNP	0.769	T
SLC6A1	6529	genome.wustl.edu	37	3	11059595	11059595	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr3:11059595G>T	ENST00000287766.4	+	4	726	c.305G>T	c.(304-306)tGc>tTc	p.C102F	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	102					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	CTGCTGGAGTGCTCCCTGGGC	0.587																																																	0													119.0	126.0	123.0					3																	11059595		2203	4300	6503	SO:0001583	missense	6529				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.305G>T	3.37:g.11059595G>T	ENSP00000287766:p.Cys102Phe		Q8N4K8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1	p.C102F	ENST00000287766.4	37	c.305	CCDS2603.1	3	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326480	0.60743	.	.	ENSG00000157103	ENST00000287766	T	0.72394	-0.65	4.07	4.07	0.47477	.	0.130821	0.52532	D	0.000065	T	0.63319	0.2501	N	0.04994	-0.135	0.80722	D	1	D	0.53462	0.96	P	0.57960	0.83	T	0.69450	-0.5142	10	0.52906	T	0.07	.	12.7011	0.57034	0.0:0.1657:0.8343:0.0	.	102	P30531	SC6A1_HUMAN	F	102	ENSP00000287766:C102F	ENSP00000287766:C102F	C	+	2	0	SLC6A1	11034595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.576000	0.46033	2.273000	0.75805	0.563000	0.77884	TGC	SLC6A1	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.587	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A1	HGNC	protein_coding	OTTHUMT00000102767.2	G	NM_003042		11059595	+1	no_errors	ENST00000287766	ensembl	human	known	70_37	missense	SNP	1.000	T
SMYD1	150572	genome.wustl.edu	37	2	88367422	88367422	+	Silent	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr2:88367422C>T	ENST00000419482.2	+	1	124	c.39C>T	c.(37-39)acC>acT	p.T13T	SMYD1_ENST00000444564.2_Silent_p.T13T|SMYD1_ENST00000438570.1_Silent_p.T13T	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	13	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGGTCTTCACCGCTGAGGGCA	0.522																																																	0													207.0	229.0	222.0					2																	88367422		2203	4300	6503	SO:0001819	synonymous_variant	150572			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.39C>T	2.37:g.88367422C>T			A0AV30|A6NE13	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.T13	ENST00000419482.2	37	c.39	CCDS33240.1	2																																																																																			SMYD1	-	smart_SET_dom		0.522	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	C	XM_097915		88367422	+1	no_errors	ENST00000419482	ensembl	human	known	70_37	silent	SNP	0.182	T
SNAP23	8773	genome.wustl.edu	37	15	42821973	42821973	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr15:42821973G>T	ENST00000249647.3	+	7	994	c.526G>T	c.(526-528)Gag>Tag	p.E176*	RP11-265N6.1_ENST00000564805.1_RNA|SNAP23_ENST00000397138.1_Nonsense_Mutation_p.E123*|SNAP23_ENST00000349777.1_Nonsense_Mutation_p.E123*|SNAP23_ENST00000564153.1_Intron	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	176	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		CATAGGCAATGAGATTGATGC	0.393																																																	0													105.0	98.0	100.0					15																	42821973		2203	4299	6502	SO:0001587	stop_gained	8773			Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"""synaptosomal-associated protein, 23kD"""			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.526G>T	15.37:g.42821973G>T	ENSP00000249647:p.Glu176*		O00162|Q13602|Q6IAE3	Nonsense_Mutation	SNP	pfam_T_SNARE_dom,pfam_SNAP-25,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.E176*	ENST00000249647.3	37	c.526	CCDS10087.1	15	.	.	.	.	.	.	.	.	.	.	G	16.37	3.105039	0.56291	.	.	ENSG00000092531	ENST00000249647;ENST00000349777;ENST00000397138	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.5869	19.6503	0.95798	0.0:0.0:1.0:0.0	.	.	.	.	X	176;123;123	.	ENSP00000249647:E176X	E	+	1	0	SNAP23	40609265	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	9.395000	0.97266	2.803000	0.96430	0.655000	0.94253	GAG	SNAP23	-	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom		0.393	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAP23	HGNC	protein_coding	OTTHUMT00000253111.4	G	NM_003825		42821973	+1	no_errors	ENST00000249647	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SPOP	8405	genome.wustl.edu	37	17	47755313	47755313	+	5'UTR	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr17:47755313G>A	ENST00000393328.2	-	0	159				SPOP_ENST00000504102.1_5'UTR|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_5'UTR|SPOP_ENST00000393331.3_5'UTR	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein						glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGCGGCGACAGCTGCTGGTCC	0.667										Prostate(2;0.17)																																							0																																										SO:0001623	5_prime_UTR_variant	8405			AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.-207C>T	17.37:g.47755313G>A			B2R6S3|D3DTW7|Q53HJ1	RNA	SNP	-	NULL	ENST00000393328.2	37	NULL	CCDS11551.1	17																																																																																			SPOP	-	-		0.667	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOP	HGNC	protein_coding	OTTHUMT00000365154.2	G	NM_003563		47755313	-1	no_errors	ENST00000502385	ensembl	human	known	70_37	rna	SNP	1.000	A
ST5	6764	genome.wustl.edu	37	11	8752742	8752742	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr11:8752742G>A	ENST00000534127.1	-	6	480	c.95C>T	c.(94-96)tCt>tTt	p.S32F	ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.S32F|ST5_ENST00000357665.1_Missense_Mutation_p.S32F	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	32					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TGGAGGTGGAGAGACTGACTG	0.527																																																	0													16.0	18.0	17.0					11																	8752742		2200	4296	6496	SO:0001583	missense	6764			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.95C>T	11.37:g.8752742G>A	ENSP00000433528:p.Ser32Phe		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S32F	ENST00000534127.1	37	c.95	CCDS7791.1	11	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706971	0.48412	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665;ENST00000528523;ENST00000527930;ENST00000533681;ENST00000526241;ENST00000530959;ENST00000533580;ENST00000526155;ENST00000534248;ENST00000527347;ENST00000533016;ENST00000527516;ENST00000527473;ENST00000530938;ENST00000533471;ENST00000524757;ENST00000527392;ENST00000526828;ENST00000525169	T;T;T	0.10005	2.92;2.92;2.92	5.88	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	L	0.61218	1.895	0.58432	D	0.999997	B	0.24721	0.11	B	0.19148	0.024	T	0.01600	-1.1315	10	0.87932	D	0	-6.1542	15.098	0.72250	0.0677:0.0:0.9323:0.0	.	32	P78524	ST5_HUMAN	F	32;32;32;32;62;32;32;32;49;32;32;32;52;32;32;32;32;32;32;32;32	ENSP00000433528:S32F;ENSP00000319678:S32F;ENSP00000350294:S32F	ENSP00000319678:S32F	S	-	2	0	ST5	8709318	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.044000	0.76578	1.512000	0.48834	0.561000	0.74099	TCT	ST5	-	NULL		0.527	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1	G	NM_005418		8752742	-1	no_errors	ENST00000313726	ensembl	human	known	70_37	missense	SNP	1.000	A
STARD3	10948	genome.wustl.edu	37	17	37819218	37819218	+	3'UTR	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr17:37819218G>A	ENST00000336308.5	+	0	1613				TCAP_ENST00000578283.1_5'Flank|STARD3_ENST00000544210.2_3'UTR|STARD3_ENST00000394250.4_3'UTR|TCAP_ENST00000309889.2_5'Flank|STARD3_ENST00000580611.1_Missense_Mutation_p.R447K	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3						cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	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;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCCAGAGCCAGAAAGGGTGCC	0.682																																																	0																																										SO:0001624	3_prime_UTR_variant	10948				CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.*57G>A	17.37:g.37819218G>A			A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	pfam_MENTAL,pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd,prints_StAR	p.R447K	ENST00000336308.5	37	c.1340	CCDS11341.1	17																																																																																			STARD3	-	NULL		0.682	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD3	HGNC	protein_coding	OTTHUMT00000256933.1	G			37819218	+1	no_errors	ENST00000580611	ensembl	human	novel	70_37	missense	SNP	0.015	A
TAS1R1	80835	genome.wustl.edu	37	1	6638780	6638780	+	Silent	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:6638780G>A	ENST00000333172.6	+	6	1855	c.1662G>A	c.(1660-1662)ccG>ccA	p.P554P	TAS1R1_ENST00000328191.4_Missense_Mutation_p.R443H|ZBTB48_ENST00000377674.4_5'Flank|TAS1R1_ENST00000351136.3_Silent_p.P300P	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	554					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCTGCTTCCCGCGCACTGTGG	0.587																																																	0													72.0	69.0	70.0					1																	6638780		2203	4300	6503	SO:0001819	synonymous_variant	80835				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1662G>A	1.37:g.6638780G>A			B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,prints_GPCR_3	p.R443H	ENST00000333172.6	37	c.1328	CCDS81.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.842|5.842	0.339547|0.339547	0.11069|0.11069	.|.	.|.	ENSG00000173662|ENSG00000173662	ENST00000411823|ENST00000328191	.|D	.|0.92048	.|-2.96	5.04|5.04	-7.8|-7.8	0.01214|0.01214	.|.	.|.	.|.	.|.	.|.	T|T	0.76842|0.76842	0.4044|0.4044	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.65471|0.65471	-0.6160|-0.6160	4|8	.|0.13108	.|T	.|0.6	.|.	3.3324|3.3324	0.07089|0.07089	0.3407:0.343:0.2309:0.0854|0.3407:0.343:0.2309:0.0854	.|.	.|443	.|Q7RTX1-3	.|.	T|H	369|443	.|ENSP00000327705:R443H	.|ENSP00000327705:R443H	A|R	+|+	1|2	0|0	TAS1R1|TAS1R1	6561367|6561367	0.000000|0.000000	0.05858|0.05858	0.686000|0.686000	0.30086|0.30086	0.406000|0.406000	0.30931|0.30931	-0.864000|-0.864000	0.04254|0.04254	-0.709000|-0.709000	0.05008|0.05008	-1.044000|-1.044000	0.02363|0.02363	GCG|CGC	TAS1R1	-	NULL		0.587	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	HGNC	protein_coding	OTTHUMT00000004211.1	G			6638780	+1	no_errors	ENST00000328191	ensembl	human	known	70_37	missense	SNP	0.022	A
TENM2	57451	genome.wustl.edu	37	5	167551886	167551886	+	Silent	SNP	C	C	T	rs369986376		TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr5:167551886C>T	ENST00000518659.1	+	11	2079	c.2040C>T	c.(2038-2040)caC>caT	p.H680H	TENM2_ENST00000519204.1_Silent_p.H559H|TENM2_ENST00000545108.1_Silent_p.H680H|TENM2_ENST00000403607.2_Silent_p.H513H|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000520394.1_Silent_p.H448H	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	680	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GCTCCAGCCACGGAGTCTGTG	0.512																																																	0								C		0,4256		0,0,2128	40.0	42.0	41.0		2040	0.6	1.0	5		41	1,8475		0,1,4237	no	coding-synonymous	ODZ2	NM_001122679.1		0,1,6365	TT,TC,CC		0.0118,0.0,0.0079		680/2766	167551886	1,12731	2128	4238	6366	SO:0001819	synonymous_variant	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2040C>T	5.37:g.167551886C>T			Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.H680	ENST00000518659.1	37	c.2040		5																																																																																			TENM2	-	pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	C	NM_001122679		167551886	+1	no_errors	ENST00000518659	ensembl	human	known	70_37	silent	SNP	0.982	T
TEX35	84066	genome.wustl.edu	37	1	178491537	178491537	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr1:178491537G>A	ENST00000319416.2	+	9	776	c.664G>A	c.(664-666)Gct>Act	p.A222T	TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000367641.3_3'UTR|TEX35_ENST00000367639.1_Intron|TEX35_ENST00000258298.2_Intron	NM_032126.4	NP_115502.2			testis expressed 35																		tgtgggccacgctgtgcctgc	0.532																																																	0													35.0	30.0	32.0					1																	178491537		2203	4300	6503	SO:0001583	missense	84066			AL136694	CCDS1323.1, CCDS53433.1, CCDS53434.1	1q25.2	2014-01-28	2012-06-29	2012-06-29	ENSG00000240021	ENSG00000240021			25366	protein-coding gene	gene with protein product	"""Testis-Specific Conserved gene 24kDa"""		"""chromosome 1 open reading frame 49"""	C1orf49		11230166, 17077512	Standard	NM_032126		Approved	DKFZP564J047, TSC24	uc001glt.2	Q5T0J7	OTTHUMG00000035023	ENST00000319416.2:c.664G>A	1.37:g.178491537G>A	ENSP00000323795:p.Ala222Thr			Missense_Mutation	SNP	NULL	p.A222T	ENST00000319416.2	37	c.664	CCDS1323.1	1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065898	0.36470	.	.	ENSG00000240021	ENST00000319416	T	0.21361	2.01	2.12	-2.27	0.06846	.	1.447060	0.04721	N	0.419429	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	0.999999	B	0.12630	0.006	B	0.04013	0.001	T	0.32375	-0.9909	10	0.56958	D	0.05	4.6768	3.8179	0.08822	0.2109:0.0:0.4539:0.3351	.	222	Q5T0J7	CA049_HUMAN	T	222	ENSP00000323795:A222T	ENSP00000323795:A222T	A	+	1	0	C1orf49	176758160	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.870000	0.04228	-0.572000	0.06006	-0.582000	0.04134	GCT	TEX35	-	NULL		0.532	TEX35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX35	HGNC	protein_coding	OTTHUMT00000084917.1	G	NM_032126		178491537	+1	no_errors	ENST00000319416	ensembl	human	known	70_37	missense	SNP	0.001	A
TPTEP1	387590	genome.wustl.edu	37	22	17082954	17082954	+	lincRNA	SNP	G	G	C			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr22:17082954G>C	ENST00000426585.1	+	0	21									transmembrane phosphatase with tensin homology pseudogene 1																		TGGTGACTAGGATGTCGTCGG	0.716																																																	0																																												387590					22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17082954G>C				RNA	SNP	-	NULL	ENST00000426585.1	37	NULL		22																																																																																			TPTEP1	-	-		0.716	TPTEP1-002	KNOWN	basic	lincRNA	TPTEP1	HGNC	lincRNA	OTTHUMT00000280575.1	G	NR_001591		17082954	+1	no_errors	ENST00000400593	ensembl	human	known	70_37	rna	SNP	1.000	C
TRIM7	81786	genome.wustl.edu	37	5	180626112	180626112	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr5:180626112G>T	ENST00000274773.7	-	4	916	c.855C>A	c.(853-855)ttC>ttA	p.F285L	CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.6_ENST00000419707.2_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.F103L|CTC-338M12.6_ENST00000511517.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'Flank|TRIM7_ENST00000393315.1_Missense_Mutation_p.F77L|TRIM7_ENST00000422067.2_Missense_Mutation_p.F77L|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000361809.3_Missense_Mutation_p.F77L|CTC-338M12.6_ENST00000514784.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	285						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GCGTGCTTTTGAATTCCTGGA	0.502																																					Esophageal Squamous(128;2258 2308 35507 48647)												0													123.0	128.0	126.0					5																	180626112		2203	4300	6503	SO:0001583	missense	81786			AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.855C>A	5.37:g.180626112G>T	ENSP00000274773:p.Phe285Leu		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.F285L	ENST00000274773.7	37	c.855	CCDS4462.1	5	.	.	.	.	.	.	.	.	.	.	g	11.51	1.659028	0.29515	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.04156	3.69;3.69;3.69;3.69;3.69	4.5	3.63	0.41609	.	0.256265	0.26734	N	0.022777	T	0.03959	0.0111	N	0.21448	0.665	0.26649	N	0.972131	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.30592	-0.9973	10	0.59425	D	0.04	.	9.1346	0.36866	0.1055:0.0:0.8945:0.0	.	285;103	Q9C029;Q9C029-4	TRIM7_HUMAN;.	L	285;77;77;103;77	ENSP00000274773:F285L;ENSP00000376991:F77L;ENSP00000355059:F77L;ENSP00000376994:F103L;ENSP00000391458:F77L	ENSP00000274773:F285L	F	-	3	2	TRIM7	180558718	0.945000	0.32115	1.000000	0.80357	0.642000	0.38348	0.575000	0.23729	1.218000	0.43458	0.550000	0.68814	TTC	TRIM7	-	NULL		0.502	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM7	HGNC	protein_coding	OTTHUMT00000253569.3	G	NM_203296		180626112	-1	no_errors	ENST00000274773	ensembl	human	known	70_37	missense	SNP	1.000	T
TTI1	9675	genome.wustl.edu	37	20	36641902	36641902	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr20:36641902G>A	ENST00000373448.2	-	3	555	c.317C>T	c.(316-318)tCa>tTa	p.S106L	TTI1_ENST00000373447.3_Missense_Mutation_p.S106L|TTI1_ENST00000449821.1_Missense_Mutation_p.S106L|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	106					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GGAGCTGGGTGAATACAGACA	0.468																																																	0													98.0	101.0	100.0					20																	36641902		2203	4300	6503	SO:0001583	missense	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.317C>T	20.37:g.36641902G>A	ENSP00000362547:p.Ser106Leu		D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.S106L	ENST00000373448.2	37	c.317	CCDS13300.1	20	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842682	0.32606	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.71934	-0.61;-0.61;-0.61	5.33	3.41	0.39046	Armadillo-like helical (1);Armadillo-type fold (1);	0.143577	0.49916	D	0.000135	T	0.60996	0.2312	L	0.58669	1.825	0.41790	D	0.989868	P	0.34462	0.454	B	0.27715	0.082	T	0.57063	-0.7875	10	0.26408	T	0.33	-20.6401	10.9817	0.47499	0.1496:0.0:0.8504:0.0	.	106	O43156	TTI1_HUMAN	L	106	ENSP00000362547:S106L;ENSP00000362546:S106L;ENSP00000407270:S106L	ENSP00000362546:S106L	S	-	2	0	TTI1	36075316	1.000000	0.71417	0.702000	0.30337	0.635000	0.38103	8.301000	0.89951	0.834000	0.34852	-0.136000	0.14681	TCA	TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250		0.468	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	G	NM_014657		36641902	-1	no_errors	ENST00000373447	ensembl	human	known	70_37	missense	SNP	0.988	A
UBE3C	9690	genome.wustl.edu	37	7	157046952	157046952	+	Silent	SNP	T	T	C			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr7:157046952T>C	ENST00000348165.5	+	21	3258	c.2898T>C	c.(2896-2898)ggT>ggC	p.G966G		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	966	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TAATTTCTGGTGCACAAGTTC	0.358																																																	0													81.0	81.0	81.0					7																	157046952		2203	4300	6503	SO:0001819	synonymous_variant	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2898T>C	7.37:g.157046952T>C			A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.G966	ENST00000348165.5	37	c.2898	CCDS34789.1	7																																																																																			UBE3C	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.358	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	T	NM_014671		157046952	+1	no_errors	ENST00000348165	ensembl	human	known	70_37	silent	SNP	1.000	C
UBXN2B	137886	genome.wustl.edu	37	8	59345735	59345735	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr8:59345735G>A	ENST00000399598.2	+	4	478	c.356G>A	c.(355-357)gGa>gAa	p.G119E	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	119						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						ACAGGTGGAGGATACAGATTG	0.294																																																	0													211.0	209.0	209.0					8																	59345735		1812	4068	5880	SO:0001583	missense	137886			AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.356G>A	8.37:g.59345735G>A	ENSP00000382507:p.Gly119Glu		B3KWZ3	Missense_Mutation	SNP	pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX	p.G119E	ENST00000399598.2	37	c.356	CCDS43741.1	8	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605175	0.87157	.	.	ENSG00000215114	ENST00000399598	T	0.71579	-0.58	5.62	5.62	0.85841	.	0.000000	0.43747	U	0.000532	D	0.86171	0.5869	M	0.84773	2.715	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	D	0.87909	0.2696	10	0.87932	D	0	-16.4668	17.8569	0.88767	0.0:0.0:1.0:0.0	.	119	Q14CS0	UBX2B_HUMAN	E	119	ENSP00000382507:G119E	ENSP00000382507:G119E	G	+	2	0	UBXN2B	59508289	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.528000	0.81941	2.660000	0.90430	0.655000	0.94253	GGA	UBXN2B	-	NULL		0.294	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN2B	HGNC	protein_coding	OTTHUMT00000378184.1	G	NM_001077619		59345735	+1	no_errors	ENST00000399598	ensembl	human	known	70_37	missense	SNP	1.000	A
VPS28	51160	genome.wustl.edu	37	8	145650985	145650985	+	Intron	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr8:145650985G>A	ENST00000526054.1	-	4	232				VPS28_ENST00000292510.4_Intron|VPS28_ENST00000377348.2_Intron|VPS28_ENST00000529182.1_Intron|VPS28_ENST00000526734.1_5'UTR			Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)						endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|negative regulation of protein ubiquitination (GO:0031397)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTCCCAGCCTGACAGACGCCT	0.682																																																	0																																										SO:0001627	intron_variant	51160			AF316887	CCDS6425.1, CCDS34967.1	8q24.3	2014-08-12	2006-04-04		ENSG00000160948	ENSG00000160948			18178	protein-coding gene	gene with protein product		611952	"""vacuolar protein sorting 28 (yeast)"""				Standard	NM_183057		Approved		uc003zct.1	Q9UK41	OTTHUMG00000165209	ENST00000526054.1:c.194+80C>T	8.37:g.145650985G>A			Q86VK0	RNA	SNP	-	NULL	ENST00000526054.1	37	NULL	CCDS6425.1	8																																																																																			VPS28	-	-		0.682	VPS28-003	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS28	HGNC	protein_coding	OTTHUMT00000382694.1	G			145650985	-1	no_errors	ENST00000526734	ensembl	human	known	70_37	rna	SNP	0.011	A
WDR48	57599	genome.wustl.edu	37	3	39133113	39133113	+	Intron	SNP	C	C	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr3:39133113C>T	ENST00000302313.5	+	17	1696				WDR48_ENST00000396258.3_Intron|WDR48_ENST00000418020.1_Intron|WDR48_ENST00000544962.1_Intron|WDR48_ENST00000466405.1_3'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48						double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTTACTGTTTCAGAAAAATAT	0.274																																																	0													40.0	42.0	41.0					3																	39133113		2203	4296	6499	SO:0001627	intron_variant	57599			AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1669-3C>T	3.37:g.39133113C>T			B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	RNA	SNP	-	NULL	ENST00000302313.5	37	NULL	CCDS33738.1	3																																																																																			WDR48	-	-		0.274	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR48	HGNC	protein_coding	OTTHUMT00000342529.1	C	NM_020839		39133113	+1	no_errors	ENST00000466405	ensembl	human	known	70_37	rna	SNP	1.000	T
WDR91	29062	genome.wustl.edu	37	7	134880995	134880995	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr7:134880995G>A	ENST00000354475.4	-	8	1176	c.1145C>T	c.(1144-1146)tCg>tTg	p.S382L	WDR91_ENST00000344400.5_Missense_Mutation_p.S382L|WDR91_ENST00000485942.1_5'Flank|AC009542.2_ENST00000412549.2_RNA|WDR91_ENST00000423565.1_Missense_Mutation_p.S347L	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	382										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGGGCCTGCCGAGGATGCCCG	0.627																																																	0													49.0	50.0	50.0					7																	134880995		2203	4300	6503	SO:0001583	missense	29062			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1145C>T	7.37:g.134880995G>A	ENSP00000346466:p.Ser382Leu		A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S382L	ENST00000354475.4	37	c.1145	CCDS34758.1	7	.	.	.	.	.	.	.	.	.	.	G	11.27	1.587864	0.28268	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	T;T;T	0.64438	1.48;-0.1;0.48	5.2	2.16	0.27623	.	1.212760	0.05530	N	0.563790	T	0.45316	0.1336	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.32348	-0.9910	10	0.36615	T	0.2	-16.7506	7.3685	0.26787	0.1844:0.2373:0.5783:0.0	.	382	A4D1P6	WDR91_HUMAN	L	382;382;347	ENSP00000340877:S382L;ENSP00000346466:S382L;ENSP00000392555:S347L	ENSP00000340877:S382L	S	-	2	0	WDR91	134531535	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.436000	0.21526	0.597000	0.29811	0.650000	0.86243	TCG	WDR91	-	NULL		0.627	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR91	HGNC	protein_coding	OTTHUMT00000340019.1	G	NM_014149		134880995	-1	no_errors	ENST00000354475	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF618	114991	genome.wustl.edu	37	9	116790996	116790996	+	Intron	SNP	G	G	C			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr9:116790996G>C	ENST00000374126.5	+	11	943				ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Intron			Q5T7W0	ZN618_HUMAN	zinc finger protein 618						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGGGGACTGAGAGCGTGACCC	0.642																																																	0																																										SO:0001627	intron_variant	114991			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.845-17G>C	9.37:g.116790996G>C			B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	RNA	SNP	-	NULL	ENST00000374126.5	37	NULL		9																																																																																			ZNF618	-	-		0.642	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	HGNC	protein_coding	OTTHUMT00000053749.1	G	XM_054983		116790996	+1	no_errors	ENST00000470105	ensembl	human	known	70_37	rna	SNP	0.916	C
ZNF720	124411	genome.wustl.edu	37	16	31765213	31765213	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr16:31765213A>T	ENST00000316491.9	+	4	552	c.353A>T	c.(352-354)gAa>gTa	p.E118V	ZNF720_ENST00000399681.3_Missense_Mutation_p.E52V|ZNF720_ENST00000539915.1_Missense_Mutation_p.E48V|ZNF720_ENST00000398696.3_Missense_Mutation_p.E48V|ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000531864.2_3'UTR	NM_001130913.1	NP_001124385.1	Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	118					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						AAAGAGTGGGAAAGTGAGGGT	0.378																																																	0													110.0	98.0	102.0					16																	31765213		692	1591	2283	SO:0001583	missense	124411			AK128671	CCDS45473.1	16p11.2	2013-01-08				ENSG00000197302		"""Zinc fingers, C2H2-type"", ""-"""	26987	protein-coding gene	gene with protein product							Standard	NM_001130913		Approved		uc002ecq.3	Q7Z2F6		ENST00000316491.9:c.353A>T	16.37:g.31765213A>T	ENSP00000319222:p.Glu118Val		Q6ZQX1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E52V	ENST00000316491.9	37	c.155	CCDS45473.1	16	.	.	.	.	.	.	.	.	.	.	a	11.46	1.645389	0.29246	.	.	ENSG00000197302	ENST00000539915;ENST00000316491;ENST00000399681;ENST00000398696;ENST00000529515	T;T;T;T;T	0.58797	0.31;5.83;2.96;3.94;5.83	0.673	0.673	0.17941	.	.	.	.	.	T	0.69160	0.3080	M	0.78916	2.43	0.09310	N	1	B;B;D;D	0.60575	0.39;0.019;0.978;0.988	B;B;P;P	0.60345	0.255;0.007;0.853;0.873	T	0.57596	-0.7784	8	0.87932	D	0	.	.	.	.	.	52;52;48;118	F5GYB6;B7Z5S2;Q7Z2F6-2;Q7Z2F6	.;.;.;ZN720_HUMAN	V	48;118;52;48;118	ENSP00000441893:E48V;ENSP00000319222:E118V;ENSP00000440701:E52V;ENSP00000443758:E48V;ENSP00000437310:E118V	ENSP00000319222:E118V	E	+	2	0	ZNF720	31672714	0.227000	0.23707	0.002000	0.10522	0.017000	0.09413	0.142000	0.16096	0.543000	0.28864	0.374000	0.22700	GAA	ZNF720	-	NULL		0.378	ZNF720-001	KNOWN	basic|CCDS	protein_coding	ZNF720	HGNC	protein_coding	OTTHUMT00000394883.3	A	NM_001004300		31765213	+1	no_errors	ENST00000399681	ensembl	human	known	70_37	missense	SNP	0.052	T
ZNF746	155061	genome.wustl.edu	37	7	149171621	149171621	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3QE-01A-21D-A21Q-09	TCGA-EA-A3QE-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73250f8e-2d08-4215-8cac-bcfcc9165aa5	3c8c024c-0290-44ab-8858-977dc83be80a	g.chr7:149171621G>A	ENST00000340622.3	-	7	2069	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	ZNF746_ENST00000458143.2_Nonsense_Mutation_p.R598*			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	597					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGCTGGCCTCGGGCCGGGGTC	0.672																																																	0													27.0	25.0	26.0					7																	149171621		2195	4292	6487	SO:0001587	stop_gained	155061			AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1789C>T	7.37:g.149171621G>A	ENSP00000345140:p.Arg597*		A8K6Z9|Q6ZRF9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_DUF3669_Znf,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R598*	ENST00000340622.3	37	c.1792	CCDS5897.1	7	.	.	.	.	.	.	.	.	.	.	G	40	8.290626	0.98745	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	.	.	.	5.58	3.73	0.42828	.	0.676525	0.12885	N	0.431098	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-5.7416	9.115	0.36753	0.0811:0.1481:0.7708:0.0	.	.	.	.	X	597;598	.	ENSP00000345140:R597X	R	-	1	2	ZNF746	148802554	0.002000	0.14202	0.202000	0.23494	0.822000	0.46500	0.520000	0.22878	0.678000	0.31325	0.462000	0.41574	CGA	ZNF746	-	NULL		0.672	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF746	HGNC	protein_coding	OTTHUMT00000352730.1	G	NM_152557		149171621	-1	no_errors	ENST00000458143	ensembl	human	known	70_37	nonsense	SNP	0.930	A
