#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
ACO1	48	genome.wustl.edu	37	9	32436286	32436286	+	Missense_Mutation	SNP	G	G	T	rs369736600		TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr9:32436286G>T	ENST00000309951.6	+	18	2276	c.2138G>T	c.(2137-2139)cGa>cTa	p.R713L	ACO1_ENST00000541043.1_Missense_Mutation_p.R614L|ACO1_ENST00000379923.1_Missense_Mutation_p.R713L	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	713					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GGCTCCCGCCGAGGTAATGAC	0.473																																						dbGAP											0													132.0	121.0	125.0					9																	32436286		2203	4300	6503	-	-	-	SO:0001583	missense	0			M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.2138G>T	9.37:g.32436286G>T	ENSP00000309477:p.Arg713Leu		D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.R713L	ENST00000309951.6	37	c.2138	CCDS6525.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.182542	0.94885	.	.	ENSG00000122729	ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.55930	0.49;0.49;1.51	5.94	5.05	0.67936	Aconitase/3-isopropylmalate dehydratase, swivel (2);Aconitase A/isopropylmalate dehydratase small subunit, swivel (1);	0.000000	0.85682	D	0.000000	D	0.82360	0.5020	H	0.98068	4.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88796	0.3281	10	0.87932	D	0	-15.9724	14.1883	0.65620	0.0727:0.0:0.9273:0.0	.	713	P21399	ACOC_HUMAN	L	713;713;614	ENSP00000309477:R713L;ENSP00000369255:R713L;ENSP00000438733:R614L	ENSP00000309477:R713L	R	+	2	0	ACO1	32426286	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.025000	0.88777	1.526000	0.49068	0.650000	0.86243	CGA	ACO1	-	pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000122729		0.473	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACO1	HGNC	protein_coding	OTTHUMT00000051998.3	75	0.00	0	G	NM_002197		32436286	32436286	+1	no_errors	ENST00000309951	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	T
ARAP3	64411	genome.wustl.edu	37	5	141049557	141049557	+	Silent	SNP	G	G	A			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr5:141049557G>A	ENST00000239440.4	-	15	2246	c.2181C>T	c.(2179-2181)ctC>ctT	p.L727L	ARAP3_ENST00000508305.1_Silent_p.L629L|ARAP3_ENST00000513878.1_Silent_p.L389L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	727					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GTATGAGGCTGAGGGGTTCAG	0.577																																						dbGAP											0													69.0	75.0	73.0					5																	141049557		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.2181C>T	5.37:g.141049557G>A			B4DIT1|D3DQE3	Silent	SNP	pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.L727	ENST00000239440.4	37	c.2181	CCDS4266.1	5																																																																																			ARAP3	-	smart_Pleckstrin_homology	ENSG00000120318		0.577	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP3	HGNC	protein_coding	OTTHUMT00000251805.1	35	0.00	0	G	NM_022481		141049557	141049557	-1	no_errors	ENST00000239440	ensembl	human	known	69_37n	silent	28	31.71	13	SNP	0.998	A
ATXN2L	11273	genome.wustl.edu	37	16	28847726	28847726	+	3'UTR	SNP	G	G	T	rs147236636		TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr16:28847726G>T	ENST00000336783.4	+	0	3535				ATXN2L_ENST00000395547.2_Silent_p.S1073S|ATXN2L_ENST00000564304.1_Intron|ATXN2L_ENST00000340394.8_Intron|ATXN2L_ENST00000325215.6_Intron|ATXN2L_ENST00000382686.4_Intron|ATXN2L_ENST00000570200.1_Intron|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like						regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTCCGTCCTCGCTCAGTTGTG	0.627																																						dbGAP											0													56.0	56.0	56.0					16																	28847726		2197	4300	6497	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.*140G>T	16.37:g.28847726G>T			A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.S1073	ENST00000336783.4	37	c.3219	CCDS10641.1	16																																																																																			ATXN2L	-	NULL	ENSG00000168488		0.627	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	45	0.00	0	G	NM_007245		28847726	28847726	+1	no_errors	ENST00000395547	ensembl	human	known	69_37n	silent	36	10.00	4	SNP	1.000	T
ERICH3	127254	genome.wustl.edu	37	1	75055486	75055486	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr1:75055486G>A	ENST00000326665.5	-	12	2223	c.2005C>T	c.(2005-2007)Ctt>Ttt	p.L669F	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.L472F	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		669	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTTTAAGAACATTCTCA	0.398																																						dbGAP											0													151.0	150.0	150.0					1																	75055486		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000326665.5:c.2005C>T	1.37:g.75055486G>A	ENSP00000322609:p.Leu669Phe		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.L669F	ENST00000326665.5	37	c.2005	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637161	0.47049	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.22743	2.38;1.94	5.27	2.1	0.27182	.	.	.	.	.	T	0.18045	0.0433	L	0.48642	1.525	0.09310	N	1	D;D	0.71674	0.997;0.998	D;D	0.69142	0.931;0.962	T	0.04664	-1.0935	9	0.56958	D	0.05	-0.4748	5.3096	0.15823	0.0971:0.0:0.5277:0.3752	.	472;669	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	F	669;472	ENSP00000322609:L669F;ENSP00000398581:L472F	ENSP00000322609:L669F	L	-	1	0	C1orf173	74828074	0.162000	0.22906	0.005000	0.12908	0.026000	0.11368	1.230000	0.32612	0.557000	0.29117	0.579000	0.79373	CTT	C1orf173	-	NULL	ENSG00000178965		0.398	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	128	0.00	0	G			75055486	75055486	-1	no_errors	ENST00000326665	ensembl	human	known	69_37n	missense	67	18.29	15	SNP	0.002	A
DYNC1H1	1778	genome.wustl.edu	37	14	102449530	102449530	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr14:102449530G>A	ENST00000360184.4	+	6	1300	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	379	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.R379H(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGGGCACTGCGTTTGGTGGAG	0.403																																						dbGAP											1	Substitution - Missense(1)	lung(1)											79.0	75.0	76.0					14																	102449530		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.1136G>A	14.37:g.102449530G>A	ENSP00000348965:p.Arg379His		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.R379H	ENST00000360184.4	37	c.1136	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	19.38	3.815693	0.70912	.	.	ENSG00000197102	ENST00000360184	T	0.56103	0.48	5.88	5.88	0.94601	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	M	0.64567	1.98	0.80722	D	1	D	0.62365	0.991	P	0.61201	0.885	T	0.66685	-0.5861	10	0.45353	T	0.12	.	20.1989	0.98252	0.0:0.0:1.0:0.0	.	379	Q14204	DYHC1_HUMAN	H	379	ENSP00000348965:R379H	ENSP00000348965:R379H	R	+	2	0	DYNC1H1	101519283	1.000000	0.71417	0.964000	0.40570	0.960000	0.62799	9.476000	0.97823	2.784000	0.95788	0.591000	0.81541	CGT	DYNC1H1	-	pfam_Dynein_heavy_dom-1	ENSG00000197102		0.403	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	76	0.00	0	G	NM_001376		102449530	102449530	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	1.000	A
EHD2	30846	genome.wustl.edu	37	19	48239730	48239730	+	Silent	SNP	G	G	C	rs536783884	byFrequency	TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr19:48239730G>C	ENST00000263277.3	+	5	1271	c.1020G>C	c.(1018-1020)gcG>gcC	p.A340A	EHD2_ENST00000538399.1_Silent_p.A204A|EHD2_ENST00000540884.1_3'UTR	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	340					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TCATCTTTGCGAAGATTCAGC	0.517																																						dbGAP											0													147.0	127.0	134.0					19																	48239730		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.1020G>C	19.37:g.48239730G>C			B2RDH9|B4DNU6|Q96CB6	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.A340	ENST00000263277.3	37	c.1020	CCDS12704.1	19																																																																																			EHD2	-	NULL	ENSG00000024422		0.517	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	HGNC	protein_coding	OTTHUMT00000465851.1	66	0.00	0	G			48239730	48239730	+1	no_errors	ENST00000263277	ensembl	human	known	69_37n	silent	28	20.00	7	SNP	0.795	C
FAM69C	125704	genome.wustl.edu	37	18	72114301	72114301	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr18:72114301C>A	ENST00000343998.6	-	2	424	c.416G>T	c.(415-417)gGc>gTc	p.G139V	FAM69C_ENST00000400291.2_Intron	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	139						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|ovary(2)	5						CATGTCCTGGCCACCCTCCCC	0.687																																						dbGAP											0													3.0	4.0	3.0					18																	72114301		644	1477	2121	-	-	-	SO:0001583	missense	0			BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"""chromosome 18 open reading frame 51"""	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	ENST00000343998.6:c.416G>T	18.37:g.72114301C>A	ENSP00000344331:p.Gly139Val			Missense_Mutation	SNP	pfam_Uncharacterised_FAM69,superfamily_Kinase-like_dom	p.G139V	ENST00000343998.6	37	c.416	CCDS42445.2	18	.	.	.	.	.	.	.	.	.	.	C	0.059	-1.228497	0.01518	.	.	ENSG00000187773	ENST00000343998	.	.	.	3.59	-1.1	0.09872	.	.	.	.	.	T	0.23014	0.0556	N	0.19112	0.55	0.09310	N	1	B	0.26318	0.146	B	0.22152	0.038	T	0.26224	-1.0109	8	0.13470	T	0.59	.	9.6924	0.40136	0.1426:0.2711:0.5863:0.0	.	139	Q0P6D2	FA69C_HUMAN	V	139	.	ENSP00000344331:G139V	G	-	2	0	FAM69C	70265281	0.016000	0.18221	0.000000	0.03702	0.337000	0.28794	0.150000	0.16263	-0.380000	0.07894	0.491000	0.48974	GGC	FAM69C	-	NULL	ENSG00000187773		0.687	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69C	HGNC	protein_coding	OTTHUMT00000346971.2	10	0.00	0	C	XM_058931		72114301	72114301	-1	no_errors	ENST00000343998	ensembl	human	known	69_37n	missense	3	62.50	5	SNP	0.000	A
FAM86B1	85002	genome.wustl.edu	37	8	12043877	12043877	+	Missense_Mutation	SNP	A	A	T	rs200005976	byFrequency	TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr8:12043877A>T	ENST00000448228.2	-	5	673	c.624T>A	c.(622-624)gaT>gaA	p.D208E	FAM86B1_ENST00000321602.8_Intron|FAM86B1_ENST00000533852.2_Missense_Mutation_p.D242E|FAM86B1_ENST00000534520.1_Intron	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	208										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		CAATGACAACATCTGGCTGGA	0.587																																						dbGAP											0													3.0	4.0	4.0					8																	12043877		1016	2037	3053	-	-	-	SO:0001583	missense	0			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.624T>A	8.37:g.12043877A>T	ENSP00000407067:p.Asp208Glu			Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.D242E	ENST00000448228.2	37	c.726	CCDS59512.1	8	.	.	.	.	.	.	.	.	.	.	-	14.79	2.642033	0.47153	.	.	ENSG00000186523	ENST00000431227;ENST00000448228;ENST00000526708	T	0.51574	0.7	1.17	-1.32	0.09201	.	.	.	.	.	T	0.62429	0.2427	M	0.83692	2.655	0.43267	D	0.995214	P;D	0.89917	0.955;1.0	P;D	0.78314	0.883;0.991	T	0.59658	-0.7413	9	0.49607	T	0.09	.	5.1821	0.15165	0.6291:0.0:0.3709:0.0	.	208;242	Q8N7N1;E9PN63	F86B1_HUMAN;.	E	242;208;242	ENSP00000407067:D208E	ENSP00000444227:D242E	D	-	3	2	FAM86B1	12081286	0.000000	0.05858	0.057000	0.19452	0.171000	0.22731	-0.535000	0.06142	-0.391000	0.07763	0.145000	0.16022	GAT	FAM86B1	-	pfam_Nicotinamide_N-MeTfrase-like	ENSG00000186523		0.587	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	FAM86B1	HGNC	protein_coding	OTTHUMT00000383317.1	11	0.00	0	A	NM_032916		12043877	12043877	-1	no_errors	ENST00000431227	ensembl	human	known	69_37n	missense	2	60.00	3	SNP	0.367	T
GPR3	2827	genome.wustl.edu	37	1	27721113	27721113	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr1:27721113G>A	ENST00000374024.3	+	2	910	c.811G>A	c.(811-813)Gat>Aat	p.D271N		NM_005281.3	NP_005272.1	P46089	GPR3_HUMAN	G protein-coupled receptor 3	271					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|regulation of meiosis (GO:0040020)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGCTGGGTGATGCCCACTC	0.577																																						dbGAP											0													235.0	191.0	206.0					1																	27721113		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032702	CCDS303.1	1p36.1-p35	2012-08-21			ENSG00000181773	ENSG00000181773		"""GPCR / Class A : Orphans"""	4484	protein-coding gene	gene with protein product		600241				7851889	Standard	NM_005281		Approved	ACCA	uc001bod.4	P46089	OTTHUMG00000003397	ENST00000374024.3:c.811G>A	1.37:g.27721113G>A	ENSP00000363136:p.Asp271Asn		A8K570	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR_orph_rcpt,prints_GPR3_rcpt,prints_7TM_GPCR_Rhodpsn	p.D271N	ENST00000374024.3	37	c.811	CCDS303.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112014	0.77210	.	.	ENSG00000181773	ENST00000374024	T	0.37058	1.22	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	M	0.66297	2.02	0.80722	D	1	B	0.30563	0.285	B	0.27262	0.078	T	0.19910	-1.0291	10	0.17369	T	0.5	.	19.905	0.97004	0.0:0.0:1.0:0.0	.	271	P46089	GPR3_HUMAN	N	271	ENSP00000363136:D271N	ENSP00000363136:D271N	D	+	1	0	GPR3	27593700	1.000000	0.71417	0.988000	0.46212	0.963000	0.63663	9.862000	0.99564	2.804000	0.96469	0.462000	0.41574	GAT	GPR3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181773		0.577	GPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR3	HGNC	protein_coding	OTTHUMT00000009522.1	100	0.00	0	G	NM_005281		27721113	27721113	+1	no_errors	ENST00000374024	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	1.000	A
ITPR1	3708	genome.wustl.edu	37	3	4847896	4847896	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr3:4847896A>G	ENST00000443694.2	+	52	7172	c.7172A>G	c.(7171-7173)tAt>tGt	p.Y2391C	ITPR1_ENST00000423119.2_Missense_Mutation_p.Y2358C|ITPR1_ENST00000544951.1_Missense_Mutation_p.Y369C|ITPR1_ENST00000354582.6_Missense_Mutation_p.Y2391C|ITPR1_ENST00000302640.8_Missense_Mutation_p.Y2391C|ITPR1_ENST00000357086.4_Missense_Mutation_p.Y2358C|ITPR1_ENST00000456211.2_Missense_Mutation_p.Y2343C|ITPR1_ENST00000463980.1_3'UTR			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2406					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CATTTGTTGTATCTGGTGATC	0.443																																						dbGAP											0													171.0	160.0	163.0					3																	4847896		1958	4155	6113	-	-	-	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7172A>G	3.37:g.4847896A>G	ENSP00000401671:p.Tyr2391Cys		E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.Y2391C	ENST00000443694.2	37	c.7172	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390363	0.82902	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98602	-3.35;-3.36;-3.35;-3.35;-3.35;-5.02;-3.35	5.07	5.07	0.68467	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.987	D;D;D	0.97110	0.982;1.0;0.973	D	0.99215	1.0877	10	0.87932	D	0	.	15.1287	0.72503	1.0:0.0:0.0:0.0	.	369;2406;2358	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	C	2406;2391;2391;2358;852;2358;2343;369;2391	ENSP00000306253:Y2391C;ENSP00000346595:Y2391C;ENSP00000405934:Y2358C;ENSP00000349597:Y2358C;ENSP00000397885:Y2343C;ENSP00000440564:Y369C;ENSP00000401671:Y2391C	ENSP00000306253:Y2391C	Y	+	2	0	ITPR1	4822896	1.000000	0.71417	0.682000	0.30024	0.886000	0.51366	9.191000	0.94940	2.036000	0.60181	0.482000	0.46254	TAT	ITPR1	-	pfam_Ion_trans_dom	ENSG00000150995		0.443	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	119	0.00	0	A	NM_002222		4847896	4847896	+1	no_errors	ENST00000302640	ensembl	human	known	69_37n	missense	53	43.62	41	SNP	1.000	G
KDM3B	51780	genome.wustl.edu	37	5	137766020	137766020	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr5:137766020G>A	ENST00000314358.5	+	22	5176	c.4976G>A	c.(4975-4977)cGt>cAt	p.R1659H	KDM3B_ENST00000394866.1_Missense_Mutation_p.R1315H|KDM3B_ENST00000542866.1_Missense_Mutation_p.R691H	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1659	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CAGACCCTCCGTAAGCGACTC	0.517																																						dbGAP											0													138.0	128.0	132.0					5																	137766020		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4976G>A	5.37:g.137766020G>A	ENSP00000326563:p.Arg1659His		A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.R1659H	ENST00000314358.5	37	c.4976	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.631637	0.96682	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.74002	-0.8;-0.8;-0.8	5.71	5.71	0.89125	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.89150	0.6633	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.90413	0.4411	10	0.87932	D	0	-4.8933	19.8446	0.96704	0.0:0.0:1.0:0.0	.	1315;1659	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	H	1659;1449;1315;691	ENSP00000326563:R1659H;ENSP00000378335:R1315H;ENSP00000439462:R691H	ENSP00000326563:R1659H	R	+	2	0	KDM3B	137793919	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.808000	0.99193	2.698000	0.92095	0.655000	0.94253	CGT	KDM3B	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000120733		0.517	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3B	HGNC	protein_coding	OTTHUMT00000373597.1	92	0.00	0	G	NM_016604		137766020	137766020	+1	no_errors	ENST00000314358	ensembl	human	known	69_37n	missense	44	21.43	12	SNP	1.000	A
KIF20B	9585	genome.wustl.edu	37	10	91497663	91497664	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr10:91497663_91497664insA	ENST00000371728.3	+	20	3130_3131	c.3065_3066insA	c.(3064-3069)ccaaatfs	p.N1023fs	KIF20B_ENST00000394289.2_Frame_Shift_Ins_p.N1023fs|KIF20B_ENST00000416354.1_Frame_Shift_Ins_p.N1053fs|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Frame_Shift_Ins_p.N983fs	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1023					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATAATTTGCCAAATACACAGT	0.347																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3068dupA	10.37:g.91497666_91497666dupA	ENSP00000360793:p.Asn1023fs		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N1053fs	ENST00000371728.3	37	c.3155_3156		10																																																																																			KIF20B	-	NULL	ENSG00000138182		0.347	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	37	0.00	0	-	NM_016195		91497663	91497664	+1	no_errors	ENST00000416354	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	0.000:0.000	A
KLK3	354	genome.wustl.edu	37	19	51361806	51361806	+	Silent	SNP	C	C	T			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr19:51361806C>T	ENST00000326003.2	+	4	626	c.585C>T	c.(583-585)ttC>ttT	p.F195F	KLK3_ENST00000593997.1_Silent_p.F195F|KLK3_ENST00000597483.1_Silent_p.F152F|KLK3_ENST00000360617.3_Silent_p.F195F|KLK3_ENST00000595952.1_Silent_p.F152F	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	195	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TGACCAAGTTCATGCTGTGTG	0.532																																					Colon(185;1767 2023 13025 30120 37630)	dbGAP											0													167.0	147.0	154.0					19																	51361806		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.585C>T	19.37:g.51361806C>T			C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.F195	ENST00000326003.2	37	c.585	CCDS12807.1	19																																																																																			KLK3	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000142515		0.532	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK3	HGNC	protein_coding	OTTHUMT00000464067.1	60	0.00	0	C	NM_145864		51361806	51361806	+1	no_errors	ENST00000326003	ensembl	human	known	69_37n	silent	31	16.22	6	SNP	0.075	T
MAP4K5	11183	genome.wustl.edu	37	14	50915497	50915497	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr14:50915497C>T	ENST00000013125.4	-	15	1387	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	RP11-406H23.2_ENST00000555257.1_lincRNA	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	357					activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					CTTACCATTTCATCTCGTGCT	0.284																																						dbGAP											0													83.0	77.0	79.0					14																	50915497		1805	4065	5870	-	-	-	SO:0001583	missense	0			U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1069G>A	14.37:g.50915497C>T	ENSP00000013125:p.Glu357Lys		Q8IYF6	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.E357K	ENST00000013125.4	37	c.1069		14	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276307	0.59649	.	.	ENSG00000012983	ENST00000013125	T	0.18810	2.19	5.79	5.79	0.91817	Protein kinase-like domain (1);	0.203652	0.51477	D	0.000091	T	0.28267	0.0698	L	0.59436	1.845	0.52099	D	0.999945	P;B;P	0.48764	0.915;0.417;0.501	P;B;B	0.45276	0.475;0.254;0.039	T	0.01508	-1.1337	10	0.21014	T	0.42	.	18.5878	0.91197	0.0:1.0:0.0:0.0	.	31;357;357	B3KWC4;B2R928;Q9Y4K4	.;.;M4K5_HUMAN	K	357	ENSP00000013125:E357K	ENSP00000013125:E357K	E	-	1	0	MAP4K5	49985247	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.057000	0.64294	2.718000	0.92993	0.655000	0.94253	GAA	MAP4K5	-	superfamily_Kinase-like_dom	ENSG00000012983		0.284	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	HGNC	protein_coding	OTTHUMT00000410880.1	139	0.00	0	C	NM_006575		50915497	50915497	-1	no_errors	ENST00000013125	ensembl	human	known	69_37n	missense	52	29.73	22	SNP	1.000	T
NBEA	26960	genome.wustl.edu	37	13	36242576	36242576	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr13:36242576delG	ENST00000400445.3	+	57	9204	c.8670delG	c.(8668-8670)cagfs	p.Q2890fs	NBEA_ENST00000540320.1_Frame_Shift_Del_p.Q2890fs|NBEA_ENST00000310336.4_Frame_Shift_Del_p.Q2890fs|NBEA_ENST00000379922.3_Frame_Shift_Del_p.Q468fs|NBEA_ENST00000537702.1_Frame_Shift_Del_p.Q683fs|NBEA_ENST00000379939.2_Frame_Shift_Del_p.Q2887fs	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2890					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGGTCTGGCAGGCCTGTGACT	0.507																																						dbGAP											0													68.0	73.0	72.0					13																	36242576		2003	4167	6170	-	-	-	SO:0001589	frameshift_variant	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8670delG	13.37:g.36242576delG	ENSP00000383295:p.Gln2890fs		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Frame_Shift_Del	DEL	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.A2891fs	ENST00000400445.3	37	c.8670	CCDS45026.1	13																																																																																			NBEA	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000172915		0.507	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		44	0.00	0	G	NM_015678		36242576	36242576	+1	no_errors	ENST00000310336	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	1.000	-
OR10Z1	128368	genome.wustl.edu	37	1	158576343	158576343	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr1:158576343C>G	ENST00000361284.1	+	1	115	c.115C>G	c.(115-117)Ctg>Gtg	p.L39V		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTAGTCACTCTGACCAGCAA	0.502																																						dbGAP											0													217.0	207.0	210.0					1																	158576343		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.115C>G	1.37:g.158576343C>G	ENSP00000354707:p.Leu39Val		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L39V	ENST00000361284.1	37	c.115	CCDS30901.1	1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.535617	0.27475	.	.	ENSG00000198967	ENST00000361284	T	0.00512	6.89	5.46	1.4	0.22301	.	0.312229	0.18304	N	0.145312	T	0.00144	0.0004	L	0.43598	1.365	0.09310	N	1	B	0.20261	0.043	B	0.18263	0.021	T	0.44667	-0.9313	10	0.35671	T	0.21	.	2.6	0.04864	0.1332:0.5217:0.1226:0.2225	.	39	Q8NGY1	O10Z1_HUMAN	V	39	ENSP00000354707:L39V	ENSP00000354707:L39V	L	+	1	2	OR10Z1	156842967	0.000000	0.05858	0.986000	0.45419	0.862000	0.49288	-0.559000	0.05971	0.098000	0.17522	0.655000	0.94253	CTG	OR10Z1	-	pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn	ENSG00000198967		0.502	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Z1	HGNC	protein_coding	OTTHUMT00000051853.1	130	0.00	0	C	NM_001004478		158576343	158576343	+1	no_errors	ENST00000361284	ensembl	human	known	69_37n	missense	64	14.67	11	SNP	0.210	G
OR2W5	441932	genome.wustl.edu	37	1	247655261	247655261	+	RNA	SNP	C	C	G			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr1:247655261C>G	ENST00000522351.1	+	0	892							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGACTCTCTTCTACACCATCG	0.517																																						dbGAP											0													123.0	111.0	115.0					1																	247655261		2203	4300	6503	-	-	-			0					1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655261C>G			B9EH85	RNA	SNP	-	NULL	ENST00000522351.1	37	NULL		1																																																																																			OR2W5	-	-	ENSG00000203664		0.517	OR2W5-002	KNOWN	basic	processed_transcript	OR2W5	HGNC	pseudogene	OTTHUMT00000375789.1	21	0.00	0	C	NM_001004698		247655261	247655261	+1	no_errors	ENST00000522351	ensembl	human	known	69_37n	rna	5	44.44	4	SNP	0.993	G
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, 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.E545K(881)|p.E545Q(18)		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)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	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"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		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.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	81	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	31	29.55	13	SNP	1.000	A
RARA	5914	genome.wustl.edu	37	17	38510603	38510603	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr17:38510603T>C	ENST00000254066.5	+	7	1312	c.857T>C	c.(856-858)tTc>tCc	p.F286S	RARA_ENST00000394086.3_Missense_Mutation_p.F302S|RARA_ENST00000394081.3_Missense_Mutation_p.F281S|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Missense_Mutation_p.F286S|RARA_ENST00000425707.3_Missense_Mutation_p.F189S	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	286	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)	p.F286T(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACCATGACCTTCTCGGACGGG	0.637			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																	dbGAP		Dom	yes		17	17q12	5914	"""retinoic acid receptor, alpha"""		L	1	Substitution - Missense(1)	lung(1)											117.0	92.0	101.0					17																	38510603		2203	4300	6503	-	-	-	SO:0001583	missense	0			X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.857T>C	17.37:g.38510603T>C	ENSP00000254066:p.Phe286Ser		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.F286S	ENST00000254066.5	37	c.857	CCDS11366.1	17	.	.	.	.	.	.	.	.	.	.	T	15.26	2.780874	0.49891	.	.	ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000319149;ENST00000420042	D;D;D;D;D	0.97256	-4.31;-4.31;-4.31;-4.31;-4.31	4.93	3.85	0.44370	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98314	0.9441	M	0.88775	2.98	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.997;0.993;0.998	D	0.98340	1.0538	10	0.87932	D	0	.	9.6445	0.39859	0.0:0.0838:0.0:0.9162	.	189;281;286	B8Y636;F1D8N9;P10276	.;.;RARA_HUMAN	S	286;189;286;302;281;279;173	ENSP00000254066:F286S;ENSP00000389993:F189S;ENSP00000377649:F286S;ENSP00000377648:F302S;ENSP00000377643:F281S	ENSP00000254066:F286S	F	+	2	0	RARA	35764129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.861000	0.87004	0.901000	0.36495	0.482000	0.46254	TTC	RARA	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	ENSG00000131759		0.637	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARA	HGNC	protein_coding	OTTHUMT00000257136.2	50	0.00	0	T			38510603	38510603	+1	no_errors	ENST00000254066	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	1.000	C
RIT2	6014	genome.wustl.edu	37	18	40554095	40554095	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr18:40554095delG	ENST00000326695.5	-	3	349	c.178delC	c.(178-180)cagfs	p.Q60fs	RIT2_ENST00000589109.1_Frame_Shift_Del_p.Q60fs|RIT2_ENST00000282028.4_Frame_Shift_Del_p.Q60fs|RIT2_ENST00000590910.1_Frame_Shift_Del_p.Q60fs	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	60					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCTGACCTGGGTCTTATAA	0.358																																						dbGAP											0													74.0	63.0	67.0					18																	40554095		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.178delC	18.37:g.40554095delG	ENSP00000321805:p.Gln60fs		B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Frame_Shift_Del	DEL	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q60fs	ENST00000326695.5	37	c.178	CCDS11921.1	18																																																																																			RIT2	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000152214		0.358	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT2	HGNC	protein_coding	OTTHUMT00000255852.1	60	0.00	0	G	NM_002930		40554095	40554095	-1	no_errors	ENST00000326695	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	1.000	-
RTN4IP1	84816	genome.wustl.edu	37	6	107070756	107070756	+	Silent	SNP	C	C	A			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr6:107070756C>A	ENST00000369063.3	-	2	828	c.363G>T	c.(361-363)cgG>cgT	p.R121R	RTN4IP1_ENST00000539449.1_Silent_p.R121R	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	121						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		CAGAGACATCCCGACCCAGAG	0.458																																						dbGAP											0													106.0	97.0	100.0					6																	107070756		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.363G>T	6.37:g.107070756C>A			Q8N9B3|Q8WZ66|Q9BRA4	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.R121	ENST00000369063.3	37	c.363	CCDS5056.1	6																																																																																			RTN4IP1	-	pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	ENSG00000130347		0.458	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4IP1	HGNC	protein_coding	OTTHUMT00000041673.1	83	0.00	0	C			107070756	107070756	-1	no_errors	ENST00000369063	ensembl	human	known	69_37n	silent	36	10.00	4	SNP	0.999	A
SHISA4	149345	genome.wustl.edu	37	1	201859604	201859604	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr1:201859604G>A	ENST00000362011.6	+	3	555	c.268G>A	c.(268-270)Gcc>Acc	p.A90T	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	90						integral component of membrane (GO:0016021)				kidney(1)|lung(4)	5						AGCAGGCATCGCCTCAGCTGT	0.557																																						dbGAP											0													220.0	183.0	196.0					1																	201859604		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358589	CCDS1416.1	1q32.1	2013-07-31	2013-07-31	2008-04-01	ENSG00000198892	ENSG00000198892		"""Shisa homologs"""	27139	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 40"", ""transmembrane protein 58"", ""shisa homolog 4 (Xenopus laevis)"""	C1orf40, TMEM58		12975309	Standard	NR_030775		Approved	hShisa4	uc001gxa.3	Q96DD7	OTTHUMG00000035807	ENST00000362011.6:c.268G>A	1.37:g.201859604G>A	ENSP00000355064:p.Ala90Thr		B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Missense_Mutation	SNP	NULL	p.A90T	ENST00000362011.6	37	c.268	CCDS1416.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.471335	0.96274	.	.	ENSG00000198892	ENST00000362011	T	0.46063	0.88	5.14	5.14	0.70334	.	0.108348	0.64402	D	0.000007	T	0.48589	0.1508	L	0.45137	1.4	0.58432	D	0.999996	D	0.58268	0.982	P	0.52481	0.7	T	0.49173	-0.8967	10	0.56958	D	0.05	-14.555	16.0868	0.81060	0.0:0.0:1.0:0.0	.	90	Q96DD7	SHSA4_HUMAN	T	90	ENSP00000355064:A90T	ENSP00000355064:A90T	A	+	1	0	SHISA4	200126227	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.089000	0.94137	2.394000	0.81467	0.491000	0.48974	GCC	SHISA4	-	NULL	ENSG00000198892		0.557	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHISA4	HGNC	protein_coding	OTTHUMT00000087096.1	73	0.00	0	G	NM_198149		201859604	201859604	+1	no_errors	ENST00000362011	ensembl	human	known	69_37n	missense	39	11.36	5	SNP	1.000	A
TUBG1	7283	genome.wustl.edu	37	17	40762203	40762203	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1Y2-01A-11D-A159-09	TCGA-D8-A1Y2-10A-01D-A159-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9dbf62eb-0de7-4410-b44b-fdf59026d8e6	0d5f1609-7930-4549-8c76-395e0700dc4b	g.chr17:40762203G>A	ENST00000251413.3	+	2	189	c.127G>A	c.(127-129)Gag>Aag	p.E43K	FAM134C_ENST00000585894.1_Intron|FAM134C_ENST00000309428.5_5'Flank|FAM134C_ENST00000543197.1_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	43					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	GTTCGCCACCGAGGGCACTGA	0.667																																					Colon(20;114 698 11420 22864)	dbGAP											0													106.0	100.0	102.0					17																	40762203		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.127G>A	17.37:g.40762203G>A	ENSP00000251413:p.Glu43Lys		Q53X79|Q9BW59	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.E43K	ENST00000251413.3	37	c.127	CCDS11433.1	17	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881860	0.72294	.	.	ENSG00000131462	ENST00000251413	T	0.69685	-0.42	5.51	5.51	0.81932	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.64402	D	0.000001	T	0.57784	0.2077	L	0.50847	1.595	0.80722	D	1	P	0.38863	0.65	B	0.20384	0.029	T	0.65578	-0.6134	10	0.72032	D	0.01	-14.8204	17.8477	0.88736	0.0:0.0:1.0:0.0	.	43	P23258	TBG1_HUMAN	K	43	ENSP00000251413:E43K	ENSP00000251413:E43K	E	+	1	0	TUBG1	38015729	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	9.504000	0.97986	2.890000	0.99128	0.650000	0.86243	GAG	TUBG1	-	pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,prints_Gamma_tubulin	ENSG00000131462		0.667	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG1	HGNC	protein_coding	OTTHUMT00000450548.1	45	0.00	0	G	NM_001070		40762203	40762203	+1	no_errors	ENST00000251413	ensembl	human	known	69_37n	missense	34	22.73	10	SNP	1.000	A
