#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADH7	131	genome.wustl.edu	37	4	100341731	100341731	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr4:100341731C>T	ENST00000209665.4	-	6	1060	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	ADH7_ENST00000482593.1_Missense_Mutation_p.V205M|ADH7_ENST00000476959.1_Missense_Mutation_p.V282M|ADH7_ENST00000437033.2_Missense_Mutation_p.V262M	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	274					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)		GTGTATCCCACGTTGTTGCCT	0.448																																						dbGAP											0													132.0	113.0	119.0					4																	100341731		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.820G>A	4.37:g.100341731C>T	ENSP00000209665:p.Val274Met		A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.V274M	ENST00000209665.4	37	c.820	CCDS34034.1	4	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832596	0.50845	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	3.8	1.02	0.19986	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.209202	0.39834	N	0.001258	T	0.42359	0.1199	H	0.96142	3.775	0.20638	N	0.999871	D	0.89917	1.0	D	0.68765	0.96	T	0.32929	-0.9888	10	0.87932	D	0	-35.8534	6.2715	0.20956	0.1478:0.6865:0.0:0.1657	.	274	P40394	ADH7_HUMAN	M	262;274;205;282	ENSP00000414254:V262M;ENSP00000209665:V274M;ENSP00000420613:V205M;ENSP00000420269:V282M	ENSP00000209665:V274M	V	-	1	0	ADH7	100560754	0.989000	0.36119	0.000000	0.03702	0.103000	0.19146	3.276000	0.51646	-0.028000	0.13850	0.563000	0.77884	GTG	ADH7	-	pfam_ADH_C	ENSG00000196344		0.448	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	HGNC	protein_coding		99	0.00	0	C	NM_000673		100341731	100341731	-1	no_errors	ENST00000209665	ensembl	human	known	69_37n	missense	149	18.58	34	SNP	0.164	T
ATG2B	55102	genome.wustl.edu	37	14	96797849	96797849	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr14:96797849T>C	ENST00000359933.4	-	11	2487	c.1594A>G	c.(1594-1596)Aac>Gac	p.N532D		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	532					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGATTAAGGTTCTGTGACGTT	0.383																																						dbGAP											0													120.0	115.0	116.0					14																	96797849		1869	4122	5991	-	-	-	SO:0001583	missense	0			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.1594A>G	14.37:g.96797849T>C	ENSP00000353010:p.Asn532Asp		Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.N532D	ENST00000359933.4	37	c.1594	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	T	14.83	2.651081	0.47362	.	.	ENSG00000066739	ENST00000359933	T	0.09723	2.95	5.5	5.5	0.81552	.	0.171581	0.39083	U	0.001478	T	0.11367	0.0277	L	0.44542	1.39	0.30523	N	0.768261	B	0.23377	0.084	B	0.21360	0.034	T	0.06552	-1.0820	10	0.20046	T	0.44	.	15.9002	0.79369	0.0:0.0:0.0:1.0	.	532	Q96BY7	ATG2B_HUMAN	D	532	ENSP00000353010:N532D	ENSP00000353010:N532D	N	-	1	0	ATG2B	95867602	0.994000	0.37717	0.310000	0.25168	0.848000	0.48234	3.162000	0.50755	2.219000	0.72066	0.533000	0.62120	AAC	ATG2B	-	NULL	ENSG00000066739		0.383	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	90	0.00	0	T	NM_018036		96797849	96797849	-1	no_errors	ENST00000359933	ensembl	human	known	69_37n	missense	158	15.96	30	SNP	0.798	C
ATP2B3	492	genome.wustl.edu	37	X	152807217	152807217	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chrX:152807217G>T	ENST00000349466.2	+	4	823	c.497G>T	c.(496-498)tGt>tTt	p.C166F	ATP2B3_ENST00000393842.1_Missense_Mutation_p.C166F|ATP2B3_ENST00000359149.3_Missense_Mutation_p.C166F|ATP2B3_ENST00000263519.4_Missense_Mutation_p.C166F|ATP2B3_ENST00000370186.1_Missense_Mutation_p.C166F|ATP2B3_ENST00000370181.2_Missense_Mutation_p.C166F			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	166					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGTCATCTGTGTGGTGCTG	0.617																																						dbGAP											0													123.0	107.0	112.0					X																	152807217		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.497G>T	X.37:g.152807217G>T	ENSP00000343886:p.Cys166Phe		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.C166F	ENST00000349466.2	37	c.497	CCDS35440.1	X	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626025	0.46840	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.79	4.92	0.64577	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.105274	0.64402	D	0.000003	T	0.80654	0.4664	N	0.01505	-0.83	0.34577	D	0.714104	P;P	0.43909	0.821;0.785	P;P	0.49853	0.624;0.49	D	0.88165	0.2860	10	0.87932	D	0	-31.4101	14.1241	0.65208	0.0:0.0:0.8485:0.1515	.	166;166	Q16720;Q16720-2	AT2B3_HUMAN;.	F	166	ENSP00000359205:C166F;ENSP00000343886:C166F;ENSP00000377425:C166F;ENSP00000352062:C166F;ENSP00000263519:C166F;ENSP00000359200:C166F	ENSP00000263519:C166F	C	+	2	0	ATP2B3	152460411	0.000000	0.05858	0.977000	0.42913	0.375000	0.29983	0.644000	0.24766	1.180000	0.42898	0.600000	0.82982	TGT	ATP2B3	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000067842		0.617	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	93	0.00	0	G	NM_021949		152807217	152807217	+1	no_errors	ENST00000263519	ensembl	human	known	69_37n	missense	202	14.04	33	SNP	0.879	T
BMPR2	659	genome.wustl.edu	37	2	203242213	203242213	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr2:203242213C>T	ENST00000374580.4	+	1	555	c.16C>T	c.(16-18)Cag>Tag	p.Q6*	RP11-686O6.2_ENST00000607928.1_lincRNA|BMPR2_ENST00000374574.2_Nonsense_Mutation_p.Q6*	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	6					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TTCCTCGCTGCAGCGGCCCTG	0.642																																						dbGAP											0			GRCh37	CD041563	BMPR2	D							63.0	69.0	67.0					2																	203242213		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.16C>T	2.37:g.203242213C>T	ENSP00000363708:p.Gln6*		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q6*	ENST00000374580.4	37	c.16	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.240785	0.95240	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	.	.	.	5.4	5.4	0.78164	.	1.793460	0.02759	N	0.118349	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	15.8811	0.79205	0.0:1.0:0.0:0.0	.	.	.	.	X	6	.	ENSP00000363702:Q6X	Q	+	1	0	BMPR2	202950458	0.944000	0.32072	0.067000	0.19924	0.609000	0.37215	4.370000	0.59517	2.532000	0.85374	0.563000	0.77884	CAG	BMPR2	-	NULL	ENSG00000204217		0.642	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	120	0.00	0	C	NM_001204		203242213	203242213	+1	no_errors	ENST00000374580	ensembl	human	known	69_37n	nonsense	116	25.64	40	SNP	0.233	T
CDKN1B	1027	genome.wustl.edu	37	12	12871146	12871147	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr12:12871146_12871147insC	ENST00000228872.4	+	1	1089_1090	c.373_374insC	c.(373-375)tctfs	p.S125fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.S125fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	125					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TCCGGCTAACTCTGAGGACACG	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.374dupC	12.37:g.12871147_12871147dupC	ENSP00000228872:p.Ser125fs		Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Ins	INS	pfam_CDI	p.E126fs	ENST00000228872.4	37	c.373_374	CCDS8653.1	12																																																																																			CDKN1B	-	NULL	ENSG00000111276		0.649	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN1B	HGNC	protein_coding	OTTHUMT00000313878.2	14	0.00	0	-	NM_004064		12871146	12871147	+1	no_errors	ENST00000228872	ensembl	human	known	69_37n	frame_shift_ins	20	42.86	15	INS	0.665:0.670	C
DIRAS2	54769	genome.wustl.edu	37	9	93375893	93375893	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr9:93375893G>A	ENST00000375765.3	-	2	605	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	73					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						ATGGACAGCCGCTGCATGGCC	0.567																																						dbGAP											0													145.0	122.0	130.0					9																	93375893		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB076889	CCDS6687.1	9q22.32	2014-05-09			ENSG00000165023	ENSG00000165023			19323	protein-coding gene	gene with protein product		607863				12194967	Standard	NM_017594		Approved	Di-Ras2, DKFZp761C07121	uc004aqx.1	Q96HU8	OTTHUMG00000020196	ENST00000375765.3:c.217C>T	9.37:g.93375893G>A	ENSP00000364919:p.Arg73Trp		B3KVM2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R73W	ENST00000375765.3	37	c.217	CCDS6687.1	9	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923278	0.92319	.	.	ENSG00000165023	ENST00000375765	T	0.77750	-1.12	5.06	5.06	0.68205	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90645	0.7066	M	0.91920	3.255	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92283	0.5835	10	0.87932	D	0	.	17.9796	0.89137	0.0:0.0:1.0:0.0	.	73	Q96HU8	DIRA2_HUMAN	W	73	ENSP00000364919:R73W	ENSP00000364919:R73W	R	-	1	2	DIRAS2	92415713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.427000	0.97472	2.808000	0.96608	0.655000	0.94253	CGG	DIRAS2	-	pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom	ENSG00000165023		0.567	DIRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS2	HGNC	protein_coding	OTTHUMT00000053012.1	89	0.00	0	G			93375893	93375893	-1	no_errors	ENST00000375765	ensembl	human	known	69_37n	missense	185	26.00	65	SNP	1.000	A
EFR3A	23167	genome.wustl.edu	37	8	132998454	132998454	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr8:132998454delG	ENST00000254624.5	+	17	2108	c.1883delG	c.(1882-1884)cgafs	p.R628fs	EFR3A_ENST00000334503.4_Frame_Shift_Del_p.R628fs|EFR3A_ENST00000519656.1_Frame_Shift_Del_p.R592fs	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	628						extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATTGAAATTCGAACTATGGAA	0.313																																						dbGAP											0													77.0	76.0	77.0					8																	132998454		2202	4293	6495	-	-	-	SO:0001589	frameshift_variant	0			D63477	CCDS34942.2	8q24.22	2008-10-23			ENSG00000132294	ENSG00000132294			28970	protein-coding gene	gene with protein product		611798				15363888	Standard	NM_015137		Approved	KIAA0143	uc003yte.3	Q14156	OTTHUMG00000150552	ENST00000254624.5:c.1883delG	8.37:g.132998454delG	ENSP00000254624:p.Arg628fs		A7MD19|Q2VPK2|Q63HL7|Q68DX1|Q6IQ18	Frame_Shift_Del	DEL	superfamily_ARM-type_fold	p.R628fs	ENST00000254624.5	37	c.1883	CCDS34942.2	8																																																																																			EFR3A	-	NULL	ENSG00000132294		0.313	EFR3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EFR3A	HGNC	protein_coding	OTTHUMT00000318886.1	198	0.00	0	G	NM_015137		132998454	132998454	+1	no_errors	ENST00000254624	ensembl	human	known	69_37n	frame_shift_del	114	28.14	47	DEL	1.000	-
FAM120C	54954	genome.wustl.edu	37	X	54161503	54161503	+	Silent	SNP	T	T	A			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chrX:54161503T>A	ENST00000375180.2	-	7	1433	c.1377A>T	c.(1375-1377)ccA>ccT	p.P459P	FAM120C_ENST00000328235.4_Silent_p.P459P	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	459							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCACTGGGAATGGTGGTGGAT	0.458																																						dbGAP											0													81.0	76.0	78.0					X																	54161503		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.1377A>T	X.37:g.54161503T>A			B2RMT7	Silent	SNP	NULL	p.P459	ENST00000375180.2	37	c.1377	CCDS14356.1	X																																																																																			FAM120C	-	NULL	ENSG00000184083		0.458	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM120C	HGNC	protein_coding	OTTHUMT00000056795.2	166	0.00	0	T	NM_017848		54161503	54161503	-1	no_errors	ENST00000375180	ensembl	human	known	69_37n	silent	269	15.67	50	SNP	0.963	A
FMO1	2326	genome.wustl.edu	37	1	171236862	171236862	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr1:171236862C>A	ENST00000354841.4	+	2	444	c.313C>A	c.(313-315)Caa>Aaa	p.Q105K	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Intron|FMO1_ENST00000367750.3_Missense_Mutation_p.Q105K	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	105					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GAAACACATTCAATTCAAGGT	0.383																																						dbGAP											0													81.0	80.0	80.0					1																	171236862		2203	4300	6503	-	-	-	SO:0001583	missense	0			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.313C>A	1.37:g.171236862C>A	ENSP00000346901:p.Gln105Lys		A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.Q105K	ENST00000354841.4	37	c.313	CCDS1294.1	1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964878	0.53507	.	.	ENSG00000010932	ENST00000367750;ENST00000433267;ENST00000354841	T;T;T	0.59772	0.24;0.24;0.24	5.55	4.63	0.57726	.	0.303658	0.38058	N	0.001825	T	0.32041	0.0816	L	0.41415	1.275	0.80722	D	1	B;B	0.20261	0.013;0.043	B;B	0.23275	0.045;0.04	T	0.16958	-1.0385	10	0.33141	T	0.24	-7.3746	12.3849	0.55327	0.0:0.9162:0.0:0.0837	.	105;105	B2RCG5;Q01740	.;FMO1_HUMAN	K	105	ENSP00000356724:Q105K;ENSP00000406982:Q105K;ENSP00000346901:Q105K	ENSP00000346901:Q105K	Q	+	1	0	FMO1	169503486	0.067000	0.21026	0.952000	0.39060	0.969000	0.65631	3.053000	0.49901	1.297000	0.44761	0.563000	0.77884	CAA	FMO1	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase	ENSG00000010932		0.383	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO1	HGNC	protein_coding	OTTHUMT00000086212.1	102	0.00	0	C	NM_002021		171236862	171236862	+1	no_errors	ENST00000354841	ensembl	human	known	69_37n	missense	289	14.50	49	SNP	1.000	A
GLT1D1	144423	genome.wustl.edu	37	12	129467539	129467539	+	Silent	SNP	C	C	T			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr12:129467539C>T	ENST00000442111.2	+	12	1033	c.945C>T	c.(943-945)aaC>aaT	p.N315N	GLT1D1_ENST00000281703.6_Silent_p.N235N|GLT1D1_ENST00000537468.1_Silent_p.N320N|GLT1D1_ENST00000542193.1_Silent_p.N232N			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	315					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TCGTAGTGAACGGAAGGGAAT	0.443																																						dbGAP											0													200.0	181.0	188.0					12																	129467539		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.945C>T	12.37:g.129467539C>T			Q86XG8	Silent	SNP	pfam_Glyco_trans_1	p.N315	ENST00000442111.2	37	c.945		12																																																																																			GLT1D1	-	pfam_Glyco_trans_1	ENSG00000151948		0.443	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	GLT1D1	HGNC	protein_coding	OTTHUMT00000399740.1	169	0.59	1	C	NM_144669		129467539	129467539	+1	no_errors	ENST00000442111	ensembl	human	known	69_37n	silent	283	15.77	53	SNP	0.000	T
GPA33	10223	genome.wustl.edu	37	1	167024281	167024281	+	Silent	SNP	G	G	T			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr1:167024281G>T	ENST00000367868.3	-	6	1102	c.759C>A	c.(757-759)ggC>ggA	p.G253G	RP11-102C16.3_ENST00000417644.1_RNA|GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	253						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGATGATGATGCCAATGATAA	0.582																																						dbGAP											0													148.0	112.0	124.0					1																	167024281		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.759C>A	1.37:g.167024281G>T			Q5VZP6	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.G253	ENST00000367868.3	37	c.759	CCDS1258.1	1																																																																																			GPA33	-	NULL	ENSG00000143167		0.582	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPA33	HGNC	protein_coding	OTTHUMT00000083245.1	61	0.00	0	G	NM_005814		167024281	167024281	-1	no_errors	ENST00000367868	ensembl	human	known	69_37n	silent	200	12.23	28	SNP	0.003	T
GPR98	84059	genome.wustl.edu	37	5	90086905	90086905	+	Silent	SNP	T	T	C			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr5:90086905T>C	ENST00000405460.2	+	70	14355	c.14259T>C	c.(14257-14259)tcT>tcC	p.S4753S	GPR98_ENST00000425867.2_Silent_p.S414S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4753					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATGGTTCTCTGTTTATGCAA	0.433																																						dbGAP											0													145.0	129.0	134.0					5																	90086905		1913	4127	6040	-	-	-	SO:0001819	synonymous_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14259T>C	5.37:g.90086905T>C			O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.S4753	ENST00000405460.2	37	c.14259	CCDS47246.1	5																																																																																			GPR98	-	NULL	ENSG00000164199		0.433	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	177	0.00	0	T	NM_032119		90086905	90086905	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	silent	393	16.38	77	SNP	0.993	C
KIF16B	55614	genome.wustl.edu	37	20	16486798	16486798	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr20:16486798C>T	ENST00000354981.2	-	8	894	c.737G>A	c.(736-738)aGt>aAt	p.S246N	KIF16B_ENST00000408042.1_Missense_Mutation_p.S246N|KIF16B_ENST00000355755.3_Missense_Mutation_p.S246N|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	246	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GTGGATCTTACTGACGGTTTC	0.448																																						dbGAP											0													119.0	120.0	120.0					20																	16486798		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.737G>A	20.37:g.16486798C>T	ENSP00000347076:p.Ser246Asn		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S246N	ENST00000354981.2	37	c.737	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880272	0.91740	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.80738	-1.41;-1.41;-1.41	5.15	5.15	0.70609	Kinesin, motor domain (4);Kinesin, motor region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.93569	0.7947	H	0.96633	3.855	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.997;0.997;0.996;0.998	D	0.95549	0.8619	10	0.87932	D	0	.	18.9927	0.92800	0.0:1.0:0.0:0.0	.	246;246;246;246	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	N	246	ENSP00000347076:S246N;ENSP00000347995:S246N;ENSP00000384164:S246N	ENSP00000347076:S246N	S	-	2	0	KIF16B	16434798	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	7.731000	0.84895	2.552000	0.86080	0.563000	0.77884	AGT	KIF16B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000089177		0.448	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	38	0.00	0	C	NM_017683		16486798	16486798	-1	no_errors	ENST00000408042	ensembl	human	known	69_37n	missense	81	35.20	44	SNP	1.000	T
KRT35	3886	genome.wustl.edu	37	17	39633898	39633898	+	Silent	SNP	G	G	T			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr17:39633898G>T	ENST00000393989.1	-	6	1134	c.1092C>A	c.(1090-1092)gcC>gcA	p.A364A	KRT35_ENST00000246639.2_Silent_p.A334A	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	364	Coil 2.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CGGCCAGCTGGGCCTCCACGT	0.632																																						dbGAP											0													57.0	57.0	57.0					17																	39633898		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.1092C>A	17.37:g.39633898G>T			O76012|Q92651	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.A364	ENST00000393989.1	37	c.1092	CCDS11394.2	17																																																																																			KRT35	-	pfam_F,prints_Keratin_I	ENSG00000197079		0.632	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT35	HGNC	protein_coding		103	0.00	0	G	NM_002280		39633898	39633898	-1	no_errors	ENST00000393989	ensembl	human	known	69_37n	silent	210	34.27	110	SNP	0.000	T
LARP4B	23185	genome.wustl.edu	37	10	871788	871788	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr10:871788C>A	ENST00000316157.3	-	11	1188	c.1148G>T	c.(1147-1149)gGa>gTa	p.G383V		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	383					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ATTTATAAATCCAGTATTTGG	0.423																																						dbGAP											0													50.0	53.0	52.0					10																	871788		2203	4300	6503	-	-	-	SO:0001583	missense	0			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1148G>T	10.37:g.871788C>A	ENSP00000326128:p.Gly383Val		A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.G383V	ENST00000316157.3	37	c.1148	CCDS31131.1	10	.	.	.	.	.	.	.	.	.	.	C	15.68	2.904916	0.52333	.	.	ENSG00000107929	ENST00000316157	T	0.32515	1.45	5.32	5.32	0.75619	.	0.272836	0.42548	D	0.000697	T	0.30634	0.0771	L	0.39245	1.2	0.80722	D	1	P	0.37423	0.594	B	0.36719	0.231	T	0.06679	-1.0813	10	0.52906	T	0.07	-3.0348	19.1982	0.93698	0.0:1.0:0.0:0.0	.	383	Q92615	LAR4B_HUMAN	V	383	ENSP00000326128:G383V	ENSP00000326128:G383V	G	-	2	0	LARP4B	861788	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.723000	0.54955	2.773000	0.95371	0.655000	0.94253	GGA	LARP4B	-	NULL	ENSG00000107929		0.423	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2	89	0.00	0	C	NM_015155		871788	871788	-1	no_errors	ENST00000316157	ensembl	human	known	69_37n	missense	46	54.00	54	SNP	1.000	A
LINGO2	158038	genome.wustl.edu	37	9	27949369	27949369	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr9:27949369G>T	ENST00000379992.2	-	6	1750	c.1301C>A	c.(1300-1302)gCa>gAa	p.A434E	LINGO2_ENST00000308675.3_Missense_Mutation_p.A434E	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	434	Ig-like C2-type.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GTCTCCATCTGCACTGCATTC	0.502																																						dbGAP											0													84.0	75.0	78.0					9																	27949369		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1301C>A	9.37:g.27949369G>T	ENSP00000369328:p.Ala434Glu		A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A434E	ENST00000379992.2	37	c.1301	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571279	0.45798	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.69306	-0.39;-0.39	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87904	0.6295	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90168	0.4233	9	.	.	.	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	434	Q7L985	LIGO2_HUMAN	E	434	ENSP00000369328:A434E;ENSP00000310126:A434E	.	A	-	2	0	LINGO2	27939369	1.000000	0.71417	0.246000	0.24233	0.325000	0.28411	9.869000	0.99810	2.822000	0.97130	0.650000	0.86243	GCA	LINGO2	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000174482		0.502	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	HGNC	protein_coding	OTTHUMT00000051978.2	116	0.00	0	G	NM_152570		27949369	27949369	-1	no_errors	ENST00000308675	ensembl	human	known	69_37n	missense	296	15.67	55	SNP	1.000	T
MDGA1	266727	genome.wustl.edu	37	6	37612289	37612290	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr6:37612289_37612290delTA	ENST00000434837.3	-	13	3562_3563	c.2384_2385delTA	c.(2383-2385)atafs	p.I795fs	MDGA1_ENST00000505425.1_Frame_Shift_Del_p.I795fs|MDGA1_ENST00000510077.1_5'Flank|MDGA1_ENST00000297153.7_Frame_Shift_Del_p.I799fs	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	795	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GGGTGCCACTTATGTCGGTGGG	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2384_2385delTA	6.37:g.37612289_37612290delTA	ENSP00000402584:p.Ile795fs		A6NHG0|Q8NBE3	Frame_Shift_Del	DEL	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like	p.I799fs	ENST00000434837.3	37	c.2397_2396	CCDS47417.1	6																																																																																			MDGA1	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000112139		0.619	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	134	0.00	0	TA			37612289	37612290	-1	no_errors	ENST00000297153	ensembl	human	known	69_37n	frame_shift_del	149	14.69	26	DEL	0.998:1.000	-
KMT2C	58508	genome.wustl.edu	37	7	151851131	151851132	+	Frame_Shift_Ins	INS	-	-	A	rs150192787	byFrequency	TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr7:151851131_151851132insA	ENST00000262189.6	-	48	12457_12458	c.12239_12240insT	c.(12238-12240)atafs	p.I4080fs	KMT2C_ENST00000485241.1_5'UTR|KMT2C_ENST00000355193.2_Frame_Shift_Ins_p.I4137fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4080					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGCTACAGATATAAGACCTGA	0.406																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12240dupT	7.37:g.151851132_151851132dupA	ENSP00000262189:p.Ile4080fs		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S4138fs	ENST00000262189.6	37	c.12411_12410	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.406	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	192	0.00	0	-			151851131	151851132	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_ins	227	29.50	95	INS	0.927:0.999	A
OR10A2	341276	genome.wustl.edu	37	11	6891161	6891161	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr11:6891161G>T	ENST00000307322.4	+	1	238	c.176G>T	c.(175-177)gGc>gTc	p.G59V		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGGAGATTGGCTTCAACCTA	0.498																																						dbGAP											0													121.0	119.0	119.0					11																	6891161		2200	4276	6476	-	-	-	SO:0001583	missense	0			BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.176G>T	11.37:g.6891161G>T	ENSP00000303862:p.Gly59Val		B2RNL9|Q6IFG9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G59V	ENST00000307322.4	37	c.176	CCDS31415.1	11	.	.	.	.	.	.	.	.	.	.	g	13.12	2.141447	0.37825	.	.	ENSG00000170790	ENST00000307322	T	0.01335	5.0	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.02230	0.0069	L	0.46819	1.47	0.58432	D	0.999995	B	0.34290	0.447	B	0.34242	0.178	T	0.58418	-0.7640	10	0.66056	D	0.02	.	14.8831	0.70547	0.0:0.0:1.0:0.0	.	59	Q9H208	O10A2_HUMAN	V	59	ENSP00000303862:G59V	ENSP00000303862:G59V	G	+	2	0	OR10A2	6847737	0.221000	0.23642	1.000000	0.80357	0.987000	0.75469	3.134000	0.50538	2.433000	0.82419	0.650000	0.86243	GGC	OR10A2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000170790		0.498	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A2	HGNC	protein_coding	OTTHUMT00000385984.1	173	0.57	1	G	NM_001004460		6891161	6891161	+1	no_errors	ENST00000307322	ensembl	human	known	69_37n	missense	496	16.36	97	SNP	1.000	T
OR4S2	219431	genome.wustl.edu	37	11	55419253	55419253	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr11:55419253G>T	ENST00000312422.2	+	1	874	c.874G>T	c.(874-876)Gta>Tta	p.V292L		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AAATGCAGAAGTAAAGAATGC	0.363																																						dbGAP											0													141.0	133.0	136.0					11																	55419253		2179	4036	6215	-	-	-	SO:0001583	missense	0			BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.874G>T	11.37:g.55419253G>T	ENSP00000310337:p.Val292Leu		Q6IF72	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V292L	ENST00000312422.2	37	c.874	CCDS31505.1	11	.	.	.	.	.	.	.	.	.	.	G	9.481	1.098272	0.20552	.	.	ENSG00000174982	ENST00000312422	T	0.37584	1.19	5.35	2.4	0.29515	.	0.307384	0.23498	N	0.047533	T	0.32675	0.0837	M	0.62016	1.91	0.33612	D	0.603734	B	0.23442	0.085	B	0.23018	0.043	T	0.39440	-0.9614	10	0.51188	T	0.08	.	7.9615	0.30074	0.335:0.0:0.665:0.0	.	292	Q8NH73	OR4S2_HUMAN	L	292	ENSP00000310337:V292L	ENSP00000310337:V292L	V	+	1	0	OR4S2	55175829	0.058000	0.20735	0.975000	0.42487	0.134000	0.20937	-0.053000	0.11846	0.618000	0.30179	0.542000	0.68232	GTA	OR4S2	-	pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn	ENSG00000174982		0.363	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S2	HGNC	protein_coding	OTTHUMT00000391503.1	88	0.00	0	G	NM_001004059		55419253	55419253	+1	no_errors	ENST00000312422	ensembl	human	known	69_37n	missense	163	37.07	96	SNP	0.972	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	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)	dbGAP		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	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.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	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	111	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	197	14.35	33	SNP	1.000	G
PKHD1	5314	genome.wustl.edu	37	6	51637584	51637584	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr6:51637584A>T	ENST00000371117.3	-	55	8833	c.8558T>A	c.(8557-8559)gTt>gAt	p.V2853D	PKHD1_ENST00000340994.4_Missense_Mutation_p.V2853D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2853	G8 2. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTCCCATAAACCCCTGAAAA	0.398																																						dbGAP											0													94.0	95.0	95.0					6																	51637584		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8558T>A	6.37:g.51637584A>T	ENSP00000360158:p.Val2853Asp		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.V2853D	ENST00000371117.3	37	c.8558	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	A	20.0	3.930744	0.73327	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.94000	-3.33;-3.33	5.79	5.79	0.91817	G8 domain (2);	0.082985	0.50627	D	0.000117	D	0.95661	0.8589	M	0.74881	2.28	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.996	D	0.96059	0.9037	10	0.62326	D	0.03	.	13.8523	0.63504	1.0:0.0:0.0:0.0	.	2853;2853;2853	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	D	2853	ENSP00000360158:V2853D;ENSP00000341097:V2853D	ENSP00000341097:V2853D	V	-	2	0	PKHD1	51745543	0.996000	0.38824	1.000000	0.80357	0.816000	0.46133	5.748000	0.68697	2.213000	0.71641	0.482000	0.46254	GTT	PKHD1	-	pfam_G8_domain	ENSG00000170927		0.398	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	140	0.71	1	A	NM_138694		51637584	51637584	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	missense	116	42.36	86	SNP	1.000	T
PRSS33	260429	genome.wustl.edu	37	16	2834663	2834663	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr16:2834663C>G	ENST00000293851.5	-	6	984	c.825G>C	c.(823-825)caG>caC	p.Q275H	PRSS33_ENST00000570702.1_Missense_Mutation_p.Q275H|PRSS33_ENST00000576886.1_3'UTR	NM_152891.2	NP_690851.2	Q8NF86	PRS33_HUMAN	protease, serine, 33	275	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			prostate(1)	1						TGACGCGAGCCTGAATCCAGG	0.637																																					NSCLC(194;489 2153 16702 19171 27758)	dbGAP											0													24.0	28.0	27.0					16																	2834663		2015	4186	6201	-	-	-	SO:0001583	missense	0			AF536382	CCDS42110.1	16p13.3	2014-09-04			ENSG00000103355	ENSG00000103355		"""Serine peptidases / Serine peptidases"""	30405	protein-coding gene	gene with protein product		613797				12795636	Standard	NM_152891		Approved	EOS	uc002cro.1	Q8NF86	OTTHUMG00000177360	ENST00000293851.5:c.825G>C	16.37:g.2834663C>G	ENSP00000293851:p.Gln275His		A6NNQ3|Q8N171	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Q275H	ENST00000293851.5	37	c.825	CCDS42110.1	16	.	.	.	.	.	.	.	.	.	.	C	1.854	-0.464300	0.04476	.	.	ENSG00000103355	ENST00000293851	D	0.81739	-1.53	4.7	3.74	0.42951	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.736353	0.12075	N	0.501803	T	0.59404	0.2191	N	0.05383	-0.06	0.25494	N	0.987612	B	0.12630	0.006	B	0.09377	0.004	T	0.38067	-0.9678	10	0.06625	T	0.88	.	10.3068	0.43685	0.197:0.803:0.0:0.0	.	275	Q8NF86	PRS33_HUMAN	H	275	ENSP00000293851:Q275H	ENSP00000293851:Q275H	Q	-	3	2	PRSS33	2774664	0.000000	0.05858	0.704000	0.30370	0.251000	0.25915	0.659000	0.24994	0.967000	0.38186	-0.329000	0.08387	CAG	PRSS33	-	superfamily_Pept_cys/ser_Trypsin-like,pfscan_Peptidase_S1_S6	ENSG00000103355		0.637	PRSS33-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRSS33	HGNC	protein_coding	OTTHUMT00000436446.1	43	0.00	0	C	NM_152891		2834663	2834663	-1	no_errors	ENST00000293851	ensembl	human	known	69_37n	missense	51	31.08	23	SNP	0.961	G
PTEN	5728	genome.wustl.edu	37	10	89693002	89693003	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr10:89693002_89693003insA	ENST00000371953.3	+	5	1843_1844	c.486_487insA	c.(487-489)aaafs	p.K163fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	163	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K163*(2)|p.Y27fs*1(2)|p.F56fs*2(1)|p.D162fs*8(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACCAGAGACAAAAAGGTAAG	0.351		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	53	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Nonsense(2)|Insertion - Frameshift(1)	prostate(17)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|endometrium(2)|soft_tissue(1)|urinary_tract(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.491dupA	10.37:g.89693007_89693007dupA	ENSP00000361021:p.Lys163fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.V165fs	ENST00000371953.3	37	c.486_487	CCDS31238.1	10																																																																																			PTEN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.351	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	70	0.00	0	-	NM_000314		89693002	89693003	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	frame_shift_ins	56	56.59	73	INS	1.000:1.000	A
RAPGEF3	10411	genome.wustl.edu	37	12	48141337	48141337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr12:48141337G>A	ENST00000449771.2	-	15	1634	c.1546C>T	c.(1546-1548)Cga>Tga	p.R516*	RAPGEF3_ENST00000549151.1_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000171000.4_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000405493.2_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000395358.3_Nonsense_Mutation_p.R516*|RAPGEF3_ENST00000548919.1_Nonsense_Mutation_p.R474*|RAPGEF3_ENST00000389212.3_Nonsense_Mutation_p.R516*			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	516	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CTGTGGCATCGCCGCCTCTCT	0.537																																						dbGAP											0													65.0	61.0	63.0					12																	48141337		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.1546C>T	12.37:g.48141337G>A	ENSP00000395708:p.Arg516*		A8K2G5|E7EQC8|O95634|Q8WVN0	Nonsense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.R516*	ENST00000449771.2	37	c.1546	CCDS41775.1	12	.	.	.	.	.	.	.	.	.	.	G	37	6.577103	0.97676	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358	.	.	.	4.37	3.47	0.39725	.	0.277746	0.27068	N	0.021096	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	9.8775	0.41213	0.0:0.0:0.7967:0.2033	.	.	.	.	X	474;516;163;474;474;474;516;528;474;516	.	ENSP00000171000:R474X	R	-	1	2	RAPGEF3	46427604	0.998000	0.40836	1.000000	0.80357	0.467000	0.32768	1.438000	0.35002	1.420000	0.47138	0.655000	0.94253	CGA	RAPGEF3	-	superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000079337		0.537	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF3	HGNC	protein_coding	OTTHUMT00000257848.1	48	0.00	0	G	NM_006105		48141337	48141337	-1	no_errors	ENST00000389212	ensembl	human	known	69_37n	nonsense	107	22.01	35	SNP	1.000	A
RPLP0P2	113157	genome.wustl.edu	37	11	61404548	61404548	+	RNA	SNP	G	G	A	rs572940221	byFrequency	TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr11:61404548G>A	ENST00000496593.1	+	0	1152					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		TCTGGACCCCGAGAAGACCTC	0.547													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		21539	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-			0			BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61404548G>A				RNA	SNP	-	NULL	ENST00000496593.1	37	NULL		11																																																																																			RPLP0P2	-	-	ENSG00000243742		0.547	RPLP0P2-002	KNOWN	basic	processed_transcript	RPLP0P2	HGNC	pseudogene	OTTHUMT00000350911.1	48	0.00	0	G	NR_002775		61404548	61404548	+1	no_errors	ENST00000496593	ensembl	human	known	69_37n	rna	82	30.51	36	SNP	1.000	A
S1PR5	53637	genome.wustl.edu	37	19	10625096	10625096	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr19:10625096C>T	ENST00000439028.3	-	2	717	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	S1PR5_ENST00000333430.4_Missense_Mutation_p.V198M	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	198					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	AAGGCGAGCACGCAGAAGAGC	0.687																																						dbGAP											0													29.0	25.0	27.0					19																	10625096		2202	4297	6499	-	-	-	SO:0001583	missense	0			AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.592G>A	19.37:g.10625096C>T	ENSP00000416915:p.Val198Met		Q6NW11	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn	p.V198M	ENST00000439028.3	37	c.592	CCDS12240.1	19	.	.	.	.	.	.	.	.	.	.	c	19.05	3.752041	0.69533	.	.	ENSG00000180739	ENST00000439028;ENST00000333430;ENST00000359134	T;T	0.73469	-0.75;-0.75	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	0.183044	0.36591	U	0.002502	T	0.81403	0.4815	M	0.67953	2.075	0.38634	D	0.951448	D	0.89917	1.0	D	0.77004	0.989	T	0.82808	-0.0274	10	0.59425	D	0.04	.	6.3991	0.21628	0.0:0.7966:0.0:0.2034	.	198	Q9H228	S1PR5_HUMAN	M	198	ENSP00000416915:V198M;ENSP00000328472:V198M	ENSP00000328472:V198M	V	-	1	0	S1PR5	10486096	0.998000	0.40836	1.000000	0.80357	0.799000	0.45148	0.885000	0.28227	2.223000	0.72356	0.486000	0.48141	GTG	S1PR5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000180739		0.687	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR5	HGNC	protein_coding	OTTHUMT00000452015.1	9	0.00	0	C	NM_030760		10625096	10625096	-1	no_errors	ENST00000333430	ensembl	human	known	69_37n	missense	10	47.37	9	SNP	1.000	T
TAS2R16	50833	genome.wustl.edu	37	7	122635049	122635049	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr7:122635049G>A	ENST00000249284.2	-	1	705	c.640C>T	c.(640-642)Cac>Tac	p.H214Y		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	214					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGATTGCAGTGACCAGTGCTA	0.453																																						dbGAP											0													158.0	130.0	140.0					7																	122635049		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.640C>T	7.37:g.122635049G>A	ENSP00000249284:p.His214Tyr		A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.H214Y	ENST00000249284.2	37	c.640	CCDS5785.1	7	.	.	.	.	.	.	.	.	.	.	G	3.695	-0.062823	0.07273	.	.	ENSG00000128519	ENST00000249284	T	0.00760	5.73	4.67	1.69	0.24217	.	1.365610	0.05329	U	0.528001	T	0.01765	0.0056	M	0.63428	1.95	0.09310	N	1	D	0.57899	0.981	P	0.54544	0.755	T	0.46721	-0.9171	10	0.09590	T	0.72	.	3.0484	0.06161	0.0989:0.1692:0.5432:0.1887	.	214	Q9NYV7	T2R16_HUMAN	Y	214	ENSP00000249284:H214Y	ENSP00000249284:H214Y	H	-	1	0	TAS2R16	122422285	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.057000	0.14279	0.237000	0.21200	0.655000	0.94253	CAC	TAS2R16	-	pfam_TAS2_rcpt	ENSG00000128519		0.453	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R16	HGNC	protein_coding	OTTHUMT00000347409.1	125	0.00	0	G	NM_016945		122635049	122635049	-1	no_errors	ENST00000249284	ensembl	human	known	69_37n	missense	269	18.18	60	SNP	0.000	A
TBL1XR1	79718	genome.wustl.edu	37	3	176752091	176752091	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr3:176752091T>C	ENST00000430069.1	-	13	1404	c.1145A>G	c.(1144-1146)aAt>aGt	p.N382S	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.N382S			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	382					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			ATGGACACAATTGTCTTGTTT	0.274																																						dbGAP											0													84.0	79.0	80.0					3																	176752091		1811	4076	5887	-	-	-	SO:0001583	missense	0			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.1145A>G	3.37:g.176752091T>C	ENSP00000405574:p.Asn382Ser		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N382S	ENST00000430069.1	37	c.1145	CCDS46961.1	3	.	.	.	.	.	.	.	.	.	.	T	4.551	0.102263	0.08731	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.59772	0.24;0.24	5.65	1.77	0.24775	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.398060	0.27792	N	0.017825	T	0.27027	0.0662	N	0.04116	-0.275	0.28359	N	0.920554	B	0.02656	0.0	B	0.06405	0.002	T	0.14839	-1.0458	10	0.15066	T	0.55	-9.6801	5.797	0.18392	0.0:0.1267:0.5952:0.2781	.	382	Q9BZK7	TBL1R_HUMAN	S	382;382;244	ENSP00000405574:N382S;ENSP00000413251:N382S	ENSP00000405574:N382S	N	-	2	0	TBL1XR1	178234785	0.976000	0.34144	0.979000	0.43373	0.993000	0.82548	0.412000	0.21131	0.367000	0.24454	0.528000	0.53228	AAT	TBL1XR1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000177565		0.274	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL1XR1	HGNC	protein_coding	OTTHUMT00000347587.3	142	0.00	0	T	NM_024665		176752091	176752091	-1	no_errors	ENST00000430069	ensembl	human	known	69_37n	missense	187	17.98	41	SNP	0.987	C
TRIM16L	147166	genome.wustl.edu	37	17	18638608	18638608	+	Silent	SNP	C	C	T	rs375964173		TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr17:18638608C>T	ENST00000449552.2	+	7	2366	c.882C>T	c.(880-882)ggC>ggT	p.G294G	TRIM16L_ENST00000572555.1_Silent_p.G294G|TRIM16L_ENST00000395902.3_Silent_p.G348G|TRIM16L_ENST00000395671.4_Silent_p.G294G|TRIM16L_ENST00000395672.2_Silent_p.G294G|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000571708.1_Silent_p.G294G			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	294	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						CCTTCTATGGCGTAGAGTATG	0.512																																						dbGAP											0													90.0	88.0	89.0					17																	18638608		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.882C>T	17.37:g.18638608C>T			A0PK10|B2RUW6|B4DQK2|B4DWQ8	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.G348	ENST00000449552.2	37	c.1044	CCDS32588.1	17																																																																																			TRIM16L	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000108448		0.512	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM16L	HGNC	protein_coding	OTTHUMT00000130670.3	173	0.00	0	C	NM_001037330		18638608	18638608	+1	no_errors	ENST00000395902	ensembl	human	known	69_37n	silent	267	29.47	112	SNP	0.291	T
VNN1	8876	genome.wustl.edu	37	6	133015262	133015262	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr6:133015262T>C	ENST00000367928.4	-	3	414	c.401A>G	c.(400-402)tAt>tGt	p.Y134C		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	134	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TGCCACAACATAGATAGAGTT	0.433																																						dbGAP											0													149.0	135.0	140.0					6																	133015262		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.401A>G	6.37:g.133015262T>C	ENSP00000356905:p.Tyr134Cys		A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.Y134C	ENST00000367928.4	37	c.401	CCDS5159.1	6	.	.	.	.	.	.	.	.	.	.	T	21.3	4.126470	0.77549	.	.	ENSG00000112299	ENST00000367928	D	0.87966	-2.32	6.07	6.07	0.98685	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.64402	D	0.000003	D	0.94814	0.8325	M	0.93420	3.415	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95923	0.8932	10	0.87932	D	0	-17.8573	16.6277	0.84984	0.0:0.0:0.0:1.0	.	134	O95497	VNN1_HUMAN	C	134	ENSP00000356905:Y134C	ENSP00000356905:Y134C	Y	-	2	0	VNN1	133056955	1.000000	0.71417	0.933000	0.37362	0.834000	0.47266	3.916000	0.56416	2.330000	0.79161	0.528000	0.53228	TAT	VNN1	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	ENSG00000112299		0.433	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VNN1	HGNC	protein_coding	OTTHUMT00000042263.1	249	0.00	0	T			133015262	133015262	-1	no_errors	ENST00000367928	ensembl	human	known	69_37n	missense	309	17.38	65	SNP	0.995	C
VPS13D	55187	genome.wustl.edu	37	1	12445347	12445347	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr1:12445347G>A	ENST00000358136.3	+	59	11529	c.11399G>A	c.(11398-11400)aGc>aAc	p.S3800N	VPS13D_ENST00000356315.4_Missense_Mutation_p.S3775N|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGGAAAAGCAGCCGTTCATAT	0.388																																						dbGAP											0													75.0	72.0	73.0					1																	12445347		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11399G>A	1.37:g.12445347G>A	ENSP00000350854:p.Ser3800Asn			Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S3800N	ENST00000358136.3	37	c.11399	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.558|7.558	0.664047|0.664047	0.14710|0.14710	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.51817	.|0.69;0.7	6.17|6.17	5.05|5.05	0.67936|0.67936	.|.	.|0.245795	.|0.47852	.|D	.|0.000220	T|T	0.21103|0.21103	0.0508|0.0508	N|N	0.02539|0.02539	-0.55|-0.55	0.80722|0.80722	D|D	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.07139|0.07139	-1.0788|-1.0788	5|10	.|0.13853	.|T	.|0.58	.|.	10.9727|10.9727	0.47448|0.47448	0.9299:0.0:0.0701:0.0|0.9299:0.0:0.0701:0.0	.|.	.|3775;3799	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	T|N	2622|3775;3800	.|ENSP00000348666:S3775N;ENSP00000350854:S3800N	.|ENSP00000348666:S3775N	A|S	+|+	1|2	0|0	VPS13D|VPS13D	12367934|12367934	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.530000|0.530000	0.34684|0.34684	4.353000|4.353000	0.59411|0.59411	1.163000|1.163000	0.42636|0.42636	-0.238000|-0.238000	0.12139|0.12139	GCC|AGC	VPS13D	-	NULL	ENSG00000048707		0.388	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	116	0.00	0	G	NM_015378		12445347	12445347	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	missense	103	25.90	36	SNP	1.000	A
ZBTB10	65986	genome.wustl.edu	37	8	81412499	81412499	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr8:81412499delA	ENST00000430430.1	+	3	2522	c.1743delA	c.(1741-1743)acafs	p.T581fs	ZBTB10_ENST00000455036.3_Frame_Shift_Del_p.T581fs|ZBTB10_ENST00000426744.2_Frame_Shift_Del_p.T581fs|ZBTB10_ENST00000379091.4_Frame_Shift_Del_p.T289fs	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	581					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)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			ACCAAACTACAAAAAGATTTA	0.343																																						dbGAP											0													13.0	13.0	13.0					8																	81412499		1808	4065	5873	-	-	-	SO:0001589	frameshift_variant	0			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1743delA	8.37:g.81412499delA	ENSP00000387462:p.Thr581fs		A4FVD0|Q86W96|Q8IXI9|Q96MH9	Frame_Shift_Del	DEL	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R583fs	ENST00000430430.1	37	c.1743	CCDS47880.1	8																																																																																			ZBTB10	-	NULL	ENSG00000205189		0.343	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB10	HGNC	protein_coding	OTTHUMT00000338055.2	15	0.00	0	A	NM_023929		81412499	81412499	+1	no_errors	ENST00000426744	ensembl	human	known	69_37n	frame_shift_del	35	16.67	7	DEL	1.000	-
ZNF292	23036	genome.wustl.edu	37	6	87865327	87865327	+	Silent	SNP	C	C	T			TCGA-A2-A0CS-01A-11D-A10Y-09	TCGA-A2-A0CS-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fe96b832-cb86-4499-948a-5124a43d5c95	748f5a6c-a00e-4da7-a556-d5460c51923d	g.chr6:87865327C>T	ENST00000369577.3	+	1	61	c.18C>T	c.(16-18)gcC>gcT	p.A6A	RP11-393I2.4_ENST00000606274.1_RNA|ZNF292_ENST00000339907.4_Silent_p.A6A|ZNF292_ENST00000392985.3_Silent_p.A6A|ZNF292_ENST00000369578.2_3'UTR	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	6						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACGAAGAGGCCGAGCAGGAGA	0.692																																						dbGAP											0													14.0	19.0	17.0					6																	87865327		2076	4185	6261	-	-	-	SO:0001819	synonymous_variant	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.18C>T	6.37:g.87865327C>T			Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A6	ENST00000369577.3	37	c.18	CCDS47457.1	6																																																																																			ZNF292	-	NULL	ENSG00000188994		0.692	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	27	0.00	0	C	NM_015021		87865327	87865327	+1	no_errors	ENST00000369577	ensembl	human	known	69_37n	silent	27	25.00	9	SNP	1.000	T
