#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CYP21A2	1589	broad.mit.edu	37	6	32008267	32008267	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr6:32008267C>T	ENST00000418967.2	+	8	1182	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	CYP21A2_ENST00000435122.2_Missense_Mutation_p.R312W	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	341	Steroid-binding. {ECO:0000250}.				glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)	p.R342W(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	GGACCGTGCACGGCTGCCCTT	0.667																																					Melanoma(174;1669 1998 3915 34700 46447)	ENST00000418967.2																			1	Substitution - Missense(1)	p.R342W(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11	GRCh37	CM970412	CYP21A2	M		c.(1024-1026)Cgg>Tgg		cytochrome P450, family 21, subfamily A, polypeptide 2							30.0	26.0	27.0					6																	32008267		2197	4288	6485	SO:0001583	missense	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:32008267C>T	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.1024C>T	6.37:g.32008267C>T	ENSP00000408860:p.Arg342Trp					CYP21A2_ENST00000435122.2_Missense_Mutation_p.R312W	p.R342W	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN			8	1182	+			341			Steroid-binding (By similarity).		A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Missense_Mutation	SNP	ENST00000418967.2	37	c.1024C>T	CCDS4735.1	.	.	.	.	.	.	.	.	.	.	c	17.09	3.300794	0.60195	.	.	ENSG00000231852	ENST00000418967;ENST00000435122	T;T	0.80214	-1.35;-1.35	5.27	4.41	0.53225	.	0.321580	0.22724	N	0.056413	D	0.86222	0.5881	M	0.88775	2.98	0.29860	N	0.827701	D;D	0.89917	1.0;1.0	D;D	0.70716	0.959;0.97	T	0.82619	-0.0368	10	0.59425	D	0.04	.	9.9409	0.41580	0.0:0.9056:0.0:0.0944	.	312;342	Q5ST44;Q16874	.;.	W	342;312	ENSP00000408860:R342W;ENSP00000415043:R312W	ENSP00000408860:R342W	R	+	1	2	CYP21A2	32116246	0.646000	0.27295	0.768000	0.31515	0.474000	0.32979	2.142000	0.42177	1.367000	0.46095	0.651000	0.88453	CGG		0.667	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500		7	36	0	0	0	0.278610	0	7	36				
HMGCR	3156	broad.mit.edu	37	5	74646121	74646121	+	Silent	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr5:74646121G>A	ENST00000287936.4	+	8	858	c.702G>A	c.(700-702)caG>caA	p.Q234Q	HMGCR_ENST00000511206.1_Silent_p.Q234Q|HMGCR_ENST00000343975.5_Silent_p.Q234Q	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	234					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)	p.Q234Q(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CAATTTGGCAGCTCAGCCATT	0.413																																						ENST00000287936.4																			1	Substitution - coding silent(1)	p.Q234Q(1)	prostate(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20						c.(700-702)caG>caA		3-hydroxy-3-methylglutaryl-CoA reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						64.0	67.0	66.0					5																	74646121		2203	4300	6503	SO:0001819	synonymous_variant	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74646121G>A		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.702G>A	5.37:g.74646121G>A						HMGCR_ENST00000511206.1_Silent_p.Q234Q|HMGCR_ENST00000343975.5_Silent_p.Q234Q	p.Q234Q	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	8	858	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	234					B7Z3Y9|Q8N190	Silent	SNP	ENST00000287936.4	37	c.702G>A	CCDS4027.1																																																																																				0.413	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			3	101	0	0	0	0.115264	0	3	101				
DLGAP2	9228	broad.mit.edu	37	8	1497834	1497834	+	Silent	SNP	G	G	A	rs373198112		TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr8:1497834G>A	ENST00000421627.2	+	2	1109	c.975G>A	c.(973-975)ccG>ccA	p.P325P		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	404					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.P369P(1)|p.P347P(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCTGAGGCCGTGCCACTACC	0.597																																						ENST00000421627.2																			2	Substitution - coding silent(2)	p.P369P(1)|p.P347P(1)	prostate(2)	breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(973-975)ccG>ccA		discs, large (Drosophila) homolog-associated protein 2		G		3,4017		0,3,2007	5.0	6.0	6.0		975	-10.8	0.5	8		6	0,8198		0,0,4099	no	coding-synonymous	DLGAP2	NM_004745.3		0,3,6106	AA,AG,GG		0.0,0.0746,0.0246		325/976	1497834	3,12215	2010	4099	6109	SO:0001819	synonymous_variant	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497834G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.975G>A	8.37:g.1497834G>A							p.P325P	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	1109	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	404					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Silent	SNP	ENST00000421627.2	37	c.975G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	3.687	-0.064249	0.07273	7.46E-4	0.0	ENSG00000198010	ENST00000520901	.	.	.	5.42	-10.8	0.00216	.	.	.	.	.	T	0.46483	0.1395	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59112	-0.7515	4	.	.	.	-9.685	9.3452	0.38104	0.2741:0.3366:0.3893:0.0	.	.	.	.	H	342	.	.	R	+	2	0	DLGAP2	1485241	0.007000	0.16637	0.467000	0.27180	0.456000	0.32438	-0.609000	0.05635	-2.515000	0.00501	-0.878000	0.02970	CGT		0.597	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		4	4	0	0	0	0.150653	0	4	4				
PCDHGA4	56111	broad.mit.edu	37	5	140735373	140735373	+	Silent	SNP	C	C	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr5:140735373C>T	ENST00000571252.1	+	1	606	c.606C>T	c.(604-606)cgC>cgT	p.R202R	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTAGATCGCGAGGAAGAGG	0.552																																						ENST00000571252.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(604-606)cgC>cgT									24.0	27.0	26.0					5																	140735373		2166	4283	6449	SO:0001819	synonymous_variant	0							g.chr5:140735373C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.606C>T	5.37:g.140735373C>T						PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.R202R	NM_018917.2	NP_061740.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	606	+								Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.606C>T	CCDS58979.1																																																																																				0.552	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		6	21	0	0	0	0.278610	0	6	21				
ATP8B4	79895	broad.mit.edu	37	15	50190384	50190384	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr15:50190384A>G	ENST00000284509.6	-	22	2495	c.2354T>C	c.(2353-2355)gTa>gCa	p.V785A	ATP8B4_ENST00000559829.1_Missense_Mutation_p.V785A	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	785						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.V785A(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCAGCAAATTACAGTCTTACA	0.423																																						ENST00000284509.6																			1	Substitution - Missense(1)	p.V785A(1)	prostate(1)	breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(2353-2355)gTa>gCa		ATPase, class I, type 8B, member 4							136.0	119.0	125.0					15																	50190384		2196	4294	6490	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50190384A>G	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.2354T>C	15.37:g.50190384A>G	ENSP00000284509:p.Val785Ala					ATP8B4_ENST00000559829.1_Missense_Mutation_p.V785A	p.V785A	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	22	2495	-		all_lung(180;0.00183)	785					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.2354T>C	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.829831	0.91036	.	.	ENSG00000104043	ENST00000284509	D	0.88664	-2.41	5.92	5.92	0.95590	HAD-like domain (1);	0.069125	0.56097	D	0.000021	D	0.94703	0.8291	M	0.85197	2.74	0.53688	D	0.999972	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.986	D	0.95302	0.8404	10	0.87932	D	0	.	14.3151	0.66443	1.0:0.0:0.0:0.0	.	5;785	B3KVY8;Q8TF62	.;AT8B4_HUMAN	A	785	ENSP00000284509:V785A	ENSP00000284509:V785A	V	-	2	0	ATP8B4	47977676	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.281000	0.95811	2.266000	0.75297	0.533000	0.62120	GTA		0.423	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		4	154	0	0	0	0.150653	0	4	154				
UTP20	27340	broad.mit.edu	37	12	101764854	101764854	+	Silent	SNP	C	C	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr12:101764854C>T	ENST00000261637.4	+	51	6880	c.6706C>T	c.(6706-6708)Ctg>Ttg	p.L2236L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2236					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.L2236L(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATCAAGAAAGCTGTTGGTCCC	0.448																																						ENST00000261637.4																			1	Substitution - coding silent(1)	p.L2236L(1)	prostate(1)	NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(6706-6708)Ctg>Ttg		UTP20, small subunit (SSU) processome component, homolog (yeast)							143.0	139.0	140.0					12																	101764854		2203	4300	6503	SO:0001819	synonymous_variant	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101764854C>T	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6706C>T	12.37:g.101764854C>T							p.L2236L	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			51	6880	+			2236					Q9H3H4	Silent	SNP	ENST00000261637.4	37	c.6706C>T	CCDS9081.1																																																																																				0.448	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		56	218	0	0	0	0.870114	0	56	218				
EBLN2	55096	broad.mit.edu	37	3	73111759	73111759	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:73111759C>T	ENST00000533473.1	+	1	950	c.527C>T	c.(526-528)gCc>gTc	p.A176V	PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	176				A -> G (in Ref. 1; AAK83528). {ECO:0000305}.				p.A176V(1)		endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						AACTTTATTGCCCTTGAGAAG	0.463																																						ENST00000533473.1																			1	Substitution - Missense(1)	p.A176V(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						c.(526-528)gCc>gTc		endogenous Bornavirus-like nucleoprotein 2							68.0	68.0	68.0					3																	73111759		1984	4155	6139	SO:0001583	missense	55096						protein binding	g.chr3:73111759C>T		CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 2"""	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.527C>T	3.37:g.73111759C>T	ENSP00000432104:p.Ala176Val					PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron	p.A176V	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN			1	950	+			176	A -> G (in Ref. 1; AAK83528).				Q8WWH3|Q9NW89	Missense_Mutation	SNP	ENST00000533473.1	37	c.527C>T	CCDS54608.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376358	0.24857	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.468	-0.567	0.11763	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.35219	0.0924	N	0.19112	0.55	0.09310	N	1	D	0.62365	0.991	D	0.63793	0.918	T	0.20505	-1.0273	7	0.48119	T	0.1	.	.	.	.	.	176	Q6P2I7	EBLN2_HUMAN	V	176	.	ENSP00000432104:A176V	A	+	2	0	EBLN2	73194449	0.496000	0.26059	0.008000	0.14137	0.007000	0.05969	-0.637000	0.05459	-0.332000	0.08489	-0.332000	0.08345	GCC		0.463	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386932.1	NM_018029		4	131	0	0	0	0.184627	0	4	131				
ANO7	50636	broad.mit.edu	37	2	242138766	242138766	+	Silent	SNP	C	C	T	rs371711409		TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr2:242138766C>T	ENST00000274979.8	+	5	610	c.507C>T	c.(505-507)taC>taT	p.Y169Y	ANO7_ENST00000402430.3_Silent_p.Y168Y	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	169					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)	p.Y169Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CAGTGCACTACGCCCTCCTCA	0.637																																						ENST00000274979.8																			1	Substitution - coding silent(1)	p.Y169Y(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(505-507)taC>taT		anoctamin 7		C		1,4405	2.1+/-5.4	0,1,2202	136.0	111.0	120.0		507	-0.6	0.0	2		120	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	ANO7	NM_001001891.3		0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384		169/934	242138766	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242138766C>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.507C>T	2.37:g.242138766C>T						ANO7_ENST00000402430.3_Silent_p.Y168Y	p.Y169Y	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			5	610	+			169					Q6IWH6	Silent	SNP	ENST00000274979.8	37	c.507C>T	CCDS33423.1																																																																																				0.637	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		17	74	0	0	0	0.500413	0	17	74				
TNFAIP2	7127	broad.mit.edu	37	14	103599852	103599852	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr14:103599852C>A	ENST00000560869.1	+	10	2338	c.1699C>A	c.(1699-1701)Cac>Aac	p.H567N	TNFAIP2_ENST00000451723.2_Missense_Mutation_p.H236N|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.H50N|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.H567N			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	567					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)		p.H567N(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CTGCACCCAGCACGTAAGCCG	0.627																																						ENST00000560869.1																			1	Substitution - Missense(1)	p.H567N(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1699-1701)Cac>Aac		tumor necrosis factor, alpha-induced protein 2							57.0	54.0	55.0					14																	103599852		2203	4300	6503	SO:0001583	missense	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103599852C>A		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1699C>A	14.37:g.103599852C>A	ENSP00000452634:p.His567Asn					TNFAIP2_ENST00000538222.1_Missense_Mutation_p.H50N|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.H236N|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.H567N	p.H567N			Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		10	2338	+		Melanoma(154;0.155)	567					Q86VI0	Missense_Mutation	SNP	ENST00000560869.1	37	c.1699C>A	CCDS9979.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.937720	0.00484	.	.	ENSG00000185215	ENST00000333007;ENST00000451723;ENST00000538222	T;T;T	0.06371	3.31;3.31;3.31	4.54	-1.27	0.09347	.	0.744073	0.13166	N	0.408682	T	0.01870	0.0059	N	0.01188	-0.97	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.06405	0.002;0.001	T	0.44832	-0.9302	10	0.02654	T	1	-8.3823	12.1787	0.54199	0.3379:0.6621:0.0:0.0	.	50;567	F6RNL3;Q03169	.;TNAP2_HUMAN	N	567;236;50	ENSP00000332326:H567N;ENSP00000393256:H236N;ENSP00000446171:H50N	ENSP00000332326:H567N	H	+	1	0	TNFAIP2	102669605	0.765000	0.28485	0.097000	0.21041	0.316000	0.28119	0.594000	0.24014	-0.542000	0.06249	-0.500000	0.04577	CAC		0.627	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		3	50	1	0	0.115264	0.115264	0.125937	3	50				
OCIAD1	54940	broad.mit.edu	37	4	48851971	48851971	+	Silent	SNP	T	T	C			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr4:48851971T>C	ENST00000381473.3	+	6	667	c.249T>C	c.(247-249)tgT>tgC	p.C83C	OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000506801.1_Silent_p.C29C|OCIAD1_ENST00000396448.2_Silent_p.C83C|OCIAD1_ENST00000425583.2_Silent_p.C83C|OCIAD1_ENST00000508293.1_Silent_p.C83C|OCIAD1_ENST00000509122.1_Silent_p.C56C|OCIAD1_ENST00000264312.7_Silent_p.C83C|OCIAD1_ENST00000444354.2_Silent_p.C83C|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000513391.2_Silent_p.C83C	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	83	OCIA.					endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)		p.C83C(1)		breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						AAGTTGCTTGTATCATGGGAT	0.318																																						ENST00000425583.2																			1	Substitution - coding silent(1)	p.C83C(1)	prostate(1)	breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						c.(247-249)tgT>tgC		OCIA domain containing 1							55.0	60.0	58.0					4																	48851971		2203	4300	6503	SO:0001819	synonymous_variant	54940					endosome	protein binding	g.chr4:48851971T>C	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.249T>C	4.37:g.48851971T>C						OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000508293.1_Silent_p.C83C|OCIAD1_ENST00000396448.2_Silent_p.C83C|OCIAD1_ENST00000264312.7_Silent_p.C83C|OCIAD1_ENST00000513391.2_Silent_p.C83C|OCIAD1_ENST00000444354.2_Silent_p.C83C|OCIAD1_ENST00000381473.3_Silent_p.C83C|OCIAD1_ENST00000506801.1_Silent_p.C29C|OCIAD1_ENST00000509122.1_Silent_p.C56C	p.C83C	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN			6	524	+			83			OCIA.		C9K030|G8JLN7|Q9BZE8	Silent	SNP	ENST00000381473.3	37	c.249T>C	CCDS3484.1																																																																																				0.318	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3	NM_017830		39	128	0	0	0	0.812448	0	39	128				
PRAM1	84106	broad.mit.edu	37	19	8564163	8564163	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr19:8564163C>T	ENST00000423345.4	-	2	1049	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	PRAM1_ENST00000255612.3_Missense_Mutation_p.A177T			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	225	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)	p.A177T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGGGGTCTGGCGGGGTGACTG	0.697																																						ENST00000423345.4																			1	Substitution - Missense(1)	p.A177T(1)	prostate(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(529-531)Gcc>Acc		PML-RARA regulated adaptor molecule 1							13.0	15.0	14.0					19																	8564163		1908	4091	5999	SO:0001583	missense	84106						lipid binding|protein binding	g.chr19:8564163C>T	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.529G>A	19.37:g.8564163C>T	ENSP00000408342:p.Ala177Thr					PRAM1_ENST00000255612.3_Missense_Mutation_p.A177T	p.A177T			Q96QH2	PRAM_HUMAN			2	1049	-			225			Pro-rich.		Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	c.529G>A	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	C	10.16	1.275173	0.23307	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.16073	2.37;2.37	3.54	-4.02	0.04034	.	2.211840	0.02262	N	0.067633	T	0.08980	0.0222	N	0.19112	0.55	0.09310	N	1	P;P	0.49185	0.733;0.92	B;B	0.39706	0.242;0.307	T	0.15896	-1.0421	10	0.41790	T	0.15	.	1.324	0.02122	0.3281:0.3651:0.1633:0.1435	.	177;225	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	T	177	ENSP00000255612:A177T;ENSP00000408342:A177T	ENSP00000255612:A177T	A	-	1	0	PRAM1	8470163	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.784000	0.04633	-0.658000	0.05366	-0.230000	0.12252	GCC		0.697	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		5	21	0	0	0	0.184627	0	5	21				
LYL1	4066	broad.mit.edu	37	19	13211896	13211896	+	Silent	SNP	T	T	G			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr19:13211896T>G	ENST00000264824.4	-	2	450	c.90A>C	c.(88-90)ccA>ccC	p.P30P		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia associated hematopoiesis regulator 1	30					B cell differentiation (GO:0030183)|blood vessel maturation (GO:0001955)|definitive hemopoiesis (GO:0060216)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P30P(1)		cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			GCTTAGGGGGTGGGGCAGGCG	0.706			T	TRB@	T-ALL																																	ENST00000264824.4				Dom	yes		19	19p13.2-p13.1	4066	T	lymphoblastic leukemia derived sequence 1			L	TRB@		T-ALL		1	Substitution - coding silent(1)	p.P30P(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7						c.(88-90)ccA>ccC		lymphoblastic leukemia derived sequence 1							5.0	6.0	6.0					19																	13211896		1931	3948	5879	SO:0001819	synonymous_variant	4066				B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:13211896T>G		CCDS12292.1	19p13.2	2014-01-20	2014-01-20			ENSG00000104903		"""Basic helix-loop-helix proteins"""	6734	protein-coding gene	gene with protein product		151440	"""lymphoblastic leukemia derived sequence 1"""			2752424	Standard	NM_005583		Approved	bHLHa18	uc002mwi.3	P12980		ENST00000264824.4:c.90A>C	19.37:g.13211896T>G							p.P30P	NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)		2	450	-			30					O76102	Silent	SNP	ENST00000264824.4	37	c.90A>C	CCDS12292.1																																																																																				0.706	LYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452827.1	NM_005583		3	8	0	0	0	0.150653	0	3	8				
GHITM	27069	broad.mit.edu	37	10	85904774	85904774	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr10:85904774T>C	ENST00000372134.3	+	5	676		c.e5+2			NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein						apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TCTTGGGTGGTAAGTCAGCTG	0.368																																						ENST00000372134.3																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.e5+2		growth hormone inducible transmembrane protein							169.0	150.0	156.0					10																	85904774		1866	4097	5963	SO:0001630	splice_region_variant	27069				apoptosis	integral to membrane|mitochondrial inner membrane		g.chr10:85904774T>C	AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.483+2T>C	10.37:g.85904774T>C								NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN			5	676	+								A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Splice_Site	SNP	ENST00000372134.3	37		CCDS41542.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.383853	0.82792	.	.	ENSG00000165678	ENST00000372134;ENST00000538477;ENST00000436406;ENST00000339736	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3789	0.74637	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GHITM	85894754	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.586000	0.82596	2.333000	0.79357	0.533000	0.62120	.		0.368	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049125.1	NM_014394	Intron	3	176	0	0	0	0.115264	0	3	176				
PIWIL3	440822	broad.mit.edu	37	22	25144942	25144942	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr22:25144942C>A	ENST00000332271.5	-	12	1797	c.1381G>T	c.(1381-1383)Gat>Tat	p.D461Y	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.D352Y|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D352Y	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	461					cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.D461Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAATTGGTATCAAATTTCAAA	0.348																																						ENST00000332271.5																			1	Substitution - Missense(1)	p.D461Y(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1381-1383)Gat>Tat		piwi-like RNA-mediated gene silencing 3							93.0	89.0	91.0					22																	25144942		2202	4300	6502	SO:0001583	missense	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25144942C>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1381G>T	22.37:g.25144942C>A	ENSP00000330031:p.Asp461Tyr					PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.D352Y|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D352Y	p.D461Y	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN			12	1797	-			461						Missense_Mutation	SNP	ENST00000332271.5	37	c.1381G>T	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663456	0.47572	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.12879	2.64;2.64;2.64	2.29	2.29	0.28610	Ribonuclease H-like (1);	0.261185	0.35870	U	0.002940	T	0.28200	0.0696	L	0.52905	1.665	0.39545	D	0.968879	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74674	0.984;0.94;0.971	T	0.08310	-1.0728	10	0.87932	D	0	-10.5855	10.673	0.45770	0.0:1.0:0.0:0.0	.	352;461;461	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	Y	461;352;352	ENSP00000330031:D461Y;ENSP00000431843:D352Y;ENSP00000435718:D352Y	ENSP00000330031:D461Y	D	-	1	0	PIWIL3	23474942	0.981000	0.34729	0.012000	0.15200	0.025000	0.11179	1.569000	0.36428	1.610000	0.50200	0.313000	0.20887	GAT		0.348	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		46	137	1	0	6.68952e-21	0.864702	8.77071e-21	46	137				
KCTD16	57528	broad.mit.edu	37	5	143586927	143586927	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr5:143586927G>A	ENST00000507359.3	+	2	1741	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	KCTD16_ENST00000512467.1_Missense_Mutation_p.R217Q	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	217					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)		p.R217Q(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GACCCTGATCGAGCCCCAGAA	0.453																																						ENST00000507359.2																			1	Substitution - Missense(1)	p.R217Q(1)	prostate(1)	large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.(649-651)cGa>cAa		potassium channel tetramerization domain containing 16							58.0	63.0	62.0					5																	143586927		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143586927G>A	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.650G>A	5.37:g.143586927G>A	ENSP00000426548:p.Arg217Gln					KCTD16_ENST00000512467.1_Missense_Mutation_p.R217Q	p.R217Q	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		2	1741	+		all_hematologic(541;0.118)	217					Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.650G>A	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634428	0.87660	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.50277	0.75;0.75	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.74881	2.28	0.54753	D	0.999984	D	0.76494	0.999	D	0.72625	0.978	T	0.69105	-0.5233	10	0.46703	T	0.11	.	19.8182	0.96579	0.0:0.0:1.0:0.0	.	217	Q68DU8	KCD16_HUMAN	Q	217	ENSP00000424151:R217Q;ENSP00000426548:R217Q	ENSP00000426548:R217Q	R	+	2	0	KCTD16	143567120	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.807000	0.99171	2.700000	0.92200	0.561000	0.74099	CGA		0.453	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		6	141	0	0	0	0.335167	0	6	141				
ASPHD2	57168	broad.mit.edu	37	22	26830386	26830386	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr22:26830386G>A	ENST00000215906.5	+	2	1243	c.805G>A	c.(805-807)Gcg>Acg	p.A269T		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	269					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.A243T(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTTTGGGAACGCGTGCATCTC	0.547																																						ENST00000215906.5																			1	Substitution - Missense(1)	p.A243T(1)	prostate(1)	endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						c.(805-807)Gcg>Acg		aspartate beta-hydroxylase domain containing 2							185.0	182.0	183.0					22																	26830386		2203	4300	6503	SO:0001583	missense	57168				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr22:26830386G>A	AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.805G>A	22.37:g.26830386G>A	ENSP00000215906:p.Ala269Thr						p.A269T	NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN			2	1243	+			269					B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	ENST00000215906.5	37	c.805G>A	CCDS13834.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619616	0.87460	.	.	ENSG00000128203	ENST00000215906	T	0.44083	0.93	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75459	-0.3310	10	0.62326	D	0.03	-33.4365	17.0945	0.86631	0.0:0.0:1.0:0.0	.	269	Q6ICH7	ASPH2_HUMAN	T	269	ENSP00000215906:A269T	ENSP00000215906:A269T	A	+	1	0	ASPHD2	25160386	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.808000	0.91939	2.498000	0.84270	0.557000	0.71058	GCG		0.547	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320422.1	NM_020437		51	206	0	0	0	0.870114	0	51	206				
CCDC88B	283234	broad.mit.edu	37	11	64109490	64109490	+	Silent	SNP	C	C	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr11:64109490C>A	ENST00000356786.5	+	8	744	c.700C>A	c.(700-702)Cga>Aga	p.R234R	CCDC88B_ENST00000301897.4_5'Flank|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	234						membrane (GO:0016020)		p.R234R(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGCTGGAGCGAGAACCCCT	0.632																																						ENST00000356786.5																			1	Substitution - coding silent(1)	p.R234R(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(700-702)Cga>Aga		coiled-coil domain containing 88B							32.0	31.0	31.0					11																	64109490		2201	4297	6498	SO:0001819	synonymous_variant	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64109490C>A	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.700C>A	11.37:g.64109490C>A						CCDC88B_ENST00000463837.1_3'UTR	p.R234R	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			8	744	+			234					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	ENST00000356786.5	37	c.700C>A	CCDS8072.2																																																																																				0.632	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		3	46	1	0	0.004672	0.115264	0.00520091	3	46				
LPO	4025	broad.mit.edu	37	17	56345181	56345181	+	Silent	SNP	C	C	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr17:56345181C>T	ENST00000262290.4	+	13	2281	c.1965C>T	c.(1963-1965)aaC>aaT	p.N655N	LPO_ENST00000421678.2_Silent_p.N572N|LPO_ENST00000582328.1_Silent_p.N572N|LPO_ENST00000543544.1_Silent_p.N596N	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	655					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.N655N(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCTTCACGAACGAGCAGAAGG	0.577																																						ENST00000262290.4																			1	Substitution - coding silent(1)	p.N655N(1)	prostate(1)	breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1963-1965)aaC>aaT		lactoperoxidase							87.0	84.0	85.0					17																	56345181		2203	4300	6503	SO:0001819	synonymous_variant	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56345181C>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1965C>T	17.37:g.56345181C>T						LPO_ENST00000543544.1_Silent_p.N596N|LPO_ENST00000421678.2_Silent_p.N572N|LPO_ENST00000582328.1_Silent_p.N572N	p.N655N	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			13	2281	+			655					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	ENST00000262290.4	37	c.1965C>T	CCDS32689.1																																																																																				0.577	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			19	83	0	0	0	0.557998	0	19	83				
SECISBP2L	9728	broad.mit.edu	37	15	49329843	49329843	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr15:49329843T>A	ENST00000559471.1	-	2	411	c.148A>T	c.(148-150)Att>Ttt	p.I50F	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.I50F	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	50							poly(A) RNA binding (GO:0044822)	p.I50F(1)|p.I50V(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TAGCTGGGAATTGGAGTTGGT	0.398																																						ENST00000559471.1																			2	Substitution - Missense(2)	p.I50F(1)|p.I50V(1)	prostate(1)|pancreas(1)	breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(148-150)Att>Ttt		SECIS binding protein 2-like							89.0	81.0	84.0					15																	49329843		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49329843T>A	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.148A>T	15.37:g.49329843T>A	ENSP00000453854:p.Ile50Phe					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.I50F	p.I50F	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			2	411	-			50					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.148A>T	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.892907	0.91889	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.77877	-1.13	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.80476	0.4630	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.83275	0.991;0.996	T	0.75314	-0.3361	10	0.09843	T	0.71	.	15.3598	0.74464	0.0:0.0:0.0:1.0	.	50;50	Q93073;Q93073-2	SBP2L_HUMAN;.	F	50	ENSP00000261847:I50F	ENSP00000261847:I50F	I	-	1	0	SECISBP2L	47117135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.678000	0.84035	2.011000	0.59026	0.533000	0.62120	ATT		0.398	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		34	82	0	0	0	0.779181	0	34	82				
OR5L2	26338	broad.mit.edu	37	11	55594892	55594892	+	Missense_Mutation	SNP	G	G	T	rs548957440	byFrequency	TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr11:55594892G>T	ENST00000378397.1	+	1	198	c.198G>T	c.(196-198)ttG>ttT	p.L66F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L66F(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCAGCCACTTGTCCTTTGTAG	0.473										HNSCC(27;0.073)																												ENST00000378397.1																			1	Substitution - Missense(1)	p.L66F(1)	prostate(1)	breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59						c.(196-198)ttG>ttT		olfactory receptor, family 5, subfamily L, member 2							230.0	213.0	219.0					11																	55594892		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55594892G>T	AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.198G>T	11.37:g.55594892G>T	ENSP00000367650:p.Leu66Phe	HNSCC(27;0.073)					p.L66F	NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN			1	198	+		all_epithelial(135;0.208)	66					Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.198G>T	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	17.16	3.317754	0.60524	.	.	ENSG00000205030	ENST00000378397	T	0.00512	6.89	5.21	2.09	0.27110	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39020	N	0.001498	T	0.01287	0.0042	M	0.77616	2.38	0.36146	D	0.847102	D	0.71674	0.998	D	0.67231	0.95	T	0.58399	-0.7643	10	0.87932	D	0	-31.318	7.0273	0.24946	0.1622:0.0:0.7019:0.1359	.	66	Q8NGL0	OR5L2_HUMAN	F	66	ENSP00000367650:L66F	ENSP00000367650:L66F	L	+	3	2	OR5L2	55351468	0.000000	0.05858	1.000000	0.80357	0.958000	0.62258	-0.241000	0.08940	0.232000	0.21100	-0.411000	0.06167	TTG		0.473	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		6	486	1	0	3.59834e-05	0.217242	4.24604e-05	6	486				
CCNB3	85417	broad.mit.edu	37	X	50054016	50054016	+	Silent	SNP	A	A	G			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chrX:50054016A>G	ENST00000376042.1	+	6	3145	c.2847A>G	c.(2845-2847)ttA>ttG	p.L949L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L949L			Q8WWL7	CCNB3_HUMAN	cyclin B3	949					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.L949L(5)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGGAGCCATTAGCCTTACAAG	0.483																																						ENST00000376042.1																			5	Substitution - coding silent(5)	p.L949L(5)	prostate(3)|lung(2)	breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2845-2847)ttA>ttG		cyclin B3							87.0	82.0	84.0					X																	50054016		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50054016A>G	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2847A>G	X.37:g.50054016A>G						CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L949L	p.L949L			Q8WWL7	CCNB3_HUMAN			6	3145	+	Ovarian(276;0.236)		949					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.2847A>G	CCDS14331.1																																																																																				0.483	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			3	98	0	0	0	0.115264	0	3	98				
ZNF197	10168	broad.mit.edu	37	3	44672664	44672664	+	Silent	SNP	G	G	A	rs150727145		TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:44672664G>A	ENST00000396058.1	+	2	668	c.501G>A	c.(499-501)ccG>ccA	p.P167P	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Silent_p.P167P|ZNF197_ENST00000344387.4_Silent_p.P167P|ZNF197_ENST00000383744.4_Silent_p.P167P			O14709	ZN197_HUMAN	zinc finger protein 197	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P167P(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AAATTTGCCCGCATCCTCCTA	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18920	0.0		0.0	False		,,,				2504	0.0					ENST00000396058.1																			2	Substitution - coding silent(2)	p.P167P(2)	prostate(1)|endometrium(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(499-501)ccG>ccA		zinc finger protein 197		G	,	5,4401	11.4+/-27.6	0,5,2198	152.0	121.0	132.0		501,501	-9.0	0.0	3	dbSNP_134	132	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZNF197	NM_001024855.1,NM_006991.3	,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,	167/268,167/1030	44672664	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44672664G>A	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.501G>A	3.37:g.44672664G>A						ZNF197_ENST00000344387.4_Silent_p.P167P|ZNF197_ENST00000383745.2_Silent_p.P167P|ZNF197_ENST00000383744.4_Silent_p.P167P|RP11-944L7.4_ENST00000457331.1_RNA	p.P167P			O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	2	668	+			167					B2RAH8|Q86VG0	Silent	SNP	ENST00000396058.1	37	c.501G>A	CCDS2717.1																																																																																				0.527	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		4	179	0	0	0	0.150653	0	4	179				
RBPMS	11030	broad.mit.edu	37	8	30407063	30407063	+	Intron	SNP	C	C	A	rs376566256		TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr8:30407063C>A	ENST00000320203.4	+	6	1110				RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000287771.5_Missense_Mutation_p.P192Q|RBPMS_ENST00000538486.1_Intron	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing						positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.P192Q(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TTGAGCGCTCCGTCTCCTGAT	0.542																																						ENST00000287771.5																			1	Substitution - Missense(1)	p.P192Q(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(574-576)cCg>cAg		RNA binding protein with multiple splicing							137.0	124.0	128.0					8																	30407063		2203	4300	6503	SO:0001627	intron_variant	11030				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	g.chr8:30407063C>A	D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"""RNA binding motif (RRM) containing"""	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.528+4922C>A	8.37:g.30407063C>A						RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000538486.1_Intron	p.P192Q	NM_001008711.1	NP_001008711.1	Q93062	RBPMS_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)	7	1141	+			0					D3DSU9|Q92516|Q92517|Q92518|Q96J26	Missense_Mutation	SNP	ENST00000320203.4	37	c.575C>A	CCDS6077.1	.	.	.	.	.	.	.	.	.	.	C	7.899	0.734077	0.15574	.	.	ENSG00000157110	ENST00000287771	T	0.29142	1.58	2.07	-3.28	0.05033	.	.	.	.	.	T	0.19046	0.0457	.	.	.	0.09310	N	1	B	0.18863	0.031	B	0.15484	0.013	T	0.19712	-1.0297	8	0.48119	T	0.1	.	7.4483	0.27223	0.0:0.2566:0.0:0.7434	.	192	Q93062-2	.	Q	192	ENSP00000287771:P192Q	ENSP00000287771:P192Q	P	+	2	0	RBPMS	30526605	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.510000	0.02262	-0.965000	0.03591	-0.495000	0.04643	CCG		0.542	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			24	101	1	0	1.5548e-18	0.693898	1.9942e-18	24	101				
BTNL8	79908	broad.mit.edu	37	5	180338568	180338568	+	Silent	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr5:180338568G>A	ENST00000340184.4	+	3	833	c.627G>A	c.(625-627)cgG>cgA	p.R209R	BTNL8_ENST00000533815.2_Silent_p.R25R|Y_RNA_ENST00000410920.1_RNA|BTNL8_ENST00000231229.4_Silent_p.R209R|BTNL8_ENST00000400707.3_Silent_p.R84R|BTNL8_ENST00000505126.1_Silent_p.R2R|BTNL8_ENST00000511704.1_Silent_p.R93R|BTNL8_ENST00000508408.1_Silent_p.R209R	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	209	Ig-like V-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTCCATGCGGCATGCTCATC	0.552																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(625-627)cgG>cgA		butyrophilin-like 8							67.0	67.0	67.0					5																	180338568		2203	4296	6499	SO:0001819	synonymous_variant	79908					integral to membrane		g.chr5:180338568G>A	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.627G>A	5.37:g.180338568G>A						BTNL8_ENST00000400707.3_Silent_p.R84R|BTNL8_ENST00000340184.4_Silent_p.R209R|BTNL8_ENST00000511704.1_Silent_p.R93R|BTNL8_ENST00000533815.2_Silent_p.R25R|BTNL8_ENST00000508408.1_Silent_p.R209R|BTNL8_ENST00000505126.1_Silent_p.R2R	p.R209R	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	861	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	209			Ig-like V-type 2.		A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Silent	SNP	ENST00000340184.4	37	c.627G>A	CCDS43413.1																																																																																				0.552	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		4	164	0	0	0	0.150653	0	4	164				
CSMD1	64478	broad.mit.edu	37	8	2910129	2910129	+	Silent	SNP	T	T	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr8:2910129T>A	ENST00000520002.1	-	51	8073	c.7518A>T	c.(7516-7518)tcA>tcT	p.S2506S	CSMD1_ENST00000537824.1_Silent_p.S2505S|CSMD1_ENST00000602723.1_Silent_p.S2506S|CSMD1_ENST00000400186.3_Silent_p.S2506S|CSMD1_ENST00000542608.1_Silent_p.S2505S|CSMD1_ENST00000602557.1_Silent_p.S2506S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2506	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.S2505S(1)|p.S2234S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCCGGTAAATGAACCGTTTC	0.428																																						ENST00000520002.1																			2	Substitution - coding silent(2)	p.S2505S(1)|p.S2234S(1)	prostate(2)	breast(20)|large_intestine(5)	25						c.(7516-7518)tcA>tcT		CUB and Sushi multiple domains 1							51.0	48.0	49.0					8																	2910129		1860	4108	5968	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2910129T>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7518A>T	8.37:g.2910129T>A						CSMD1_ENST00000602723.1_Silent_p.S2506S|CSMD1_ENST00000542608.1_Silent_p.S2505S|CSMD1_ENST00000537824.1_Silent_p.S2505S|CSMD1_ENST00000400186.3_Silent_p.S2506S|CSMD1_ENST00000602557.1_Silent_p.S2506S	p.S2506S			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	51	8073	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2506			Sushi 15.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.7518A>T		.	.	.	.	.	.	.	.	.	.	T	0.023	-1.406063	0.01155	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.13	-10.3	0.00346	.	.	.	.	.	T	0.46698	0.1406	.	.	.	0.51233	D	0.999916	.	.	.	.	.	.	T	0.71820	-0.4477	4	.	.	.	.	7.8319	0.29347	0.1248:0.1453:0.5399:0.19	.	.	.	.	F	1923	.	.	I	-	1	0	CSMD1	2897536	0.009000	0.17119	0.000000	0.03702	0.012000	0.07955	-1.947000	0.01534	-6.556000	0.00003	-3.755000	0.00021	ATT		0.428	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		7	27	0	0	0	0.248553	0	7	27				
ALS2	57679	broad.mit.edu	37	2	202626025	202626025	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr2:202626025C>A	ENST00000264276.6	-	4	1064	c.692G>T	c.(691-693)cGa>cTa	p.R231L	ALS2_ENST00000467448.1_Missense_Mutation_p.R231L|ALS2_ENST00000496244.1_5'Flank	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	231					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.R231L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTGGTTGCATCGTTCTGGGAC	0.498																																						ENST00000264276.6																			1	Substitution - Missense(1)	p.R231L(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(691-693)cGa>cTa		amyotrophic lateral sclerosis 2 (juvenile)							108.0	108.0	108.0					2																	202626025		2048	4198	6246	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202626025C>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.692G>T	2.37:g.202626025C>A	ENSP00000264276:p.Arg231Leu					ALS2_ENST00000467448.1_Missense_Mutation_p.R231L	p.R231L	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			4	1064	-			231					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.692G>T	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562798	0.86335	.	.	ENSG00000003393	ENST00000264276;ENST00000467448	T;T	0.56941	0.43;0.72	6.11	6.11	0.99139	.	0.103470	0.64402	D	0.000004	T	0.70211	0.3198	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.987;0.971	D;D;P;P	0.87578	0.998;0.998;0.554;0.554	T	0.62831	-0.6771	10	0.33141	T	0.24	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	231;231;231;231	Q96Q42-2;Q96Q42-3;Q6IQ41;Q96Q42	.;.;.;ALS2_HUMAN	L	231	ENSP00000264276:R231L;ENSP00000429223:R231L	ENSP00000264276:R231L	R	-	2	0	ALS2	202334270	1.000000	0.71417	0.998000	0.56505	0.860000	0.49131	4.348000	0.59379	2.906000	0.99361	0.655000	0.94253	CGA		0.498	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		5	121	1	0	0.184627	0.184627	0.198055	5	121				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000564451.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000567960.1_RNA								0	1255	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	54	0	0	0	0.361761	0	8	54				
LRRC2	79442	broad.mit.edu	37	3	46592966	46592966	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:46592966G>A	ENST00000395905.3	-	2	508	c.116C>T	c.(115-117)gCc>gTc	p.A39V	LRRC2_ENST00000496388.1_Intron|LRRC2_ENST00000296144.3_Missense_Mutation_p.A39V|AC104304.2_ENST00000583198.1_RNA	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	39								p.A39V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTTCTCCAAGGCGCTCTTCTC	0.468																																						ENST00000395905.3																			1	Substitution - Missense(1)	p.A39V(1)	prostate(1)	breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(115-117)gCc>gTc		leucine rich repeat containing 2							132.0	134.0	133.0					3																	46592966		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46592966G>A	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.116C>T	3.37:g.46592966G>A	ENSP00000379241:p.Ala39Val					LRRC2_ENST00000496388.1_Intron|LRRC2_ENST00000296144.3_Missense_Mutation_p.A39V	p.A39V	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	2	508	-		Ovarian(412;0.0563)	39					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.116C>T	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.979296	0.53827	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.19532	2.14;2.14	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000013	T	0.33904	0.0879	L	0.32530	0.975	0.53005	D	0.999963	D	0.76494	0.999	D	0.78314	0.991	T	0.01520	-1.1334	10	0.28530	T	0.3	.	15.6094	0.76704	0.0:0.0:1.0:0.0	.	39	Q9BYS8	LRRC2_HUMAN	V	39	ENSP00000379241:A39V;ENSP00000296144:A39V	ENSP00000296144:A39V	A	-	2	0	LRRC2	46567970	0.982000	0.34865	0.187000	0.23214	0.072000	0.16883	5.919000	0.70005	2.624000	0.88883	0.655000	0.94253	GCC		0.468	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			4	164	0	0	0	0.150653	0	4	164				
TRBV6-4	28603	broad.mit.edu	37	7	142250753	142250753	+	RNA	SNP	C	C	T	rs537790179		TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr7:142250753C>T	ENST00000390360.3	-	0	314									T cell receptor beta variable 6-4																		GTACAGCAGACGCCAACGTGA	0.502													.|||	1	0.000199681	0.0	0.0014	5008	,	,		21186	0.0		0.0	False		,,,				2504	0.0					ENST00000390360.3																			0																				117.0	119.0	119.0					7																	142250753		2008	4184	6192			0							g.chr7:142250753C>T	X61653		7q34	2012-02-07			ENSG00000211713	ENSG00000211713		"""T cell receptors / TRB locus"""	12229	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV64, TCRBV13S5, TCRBV6S4			OTTHUMG00000158533		7.37:g.142250753C>T														0	314	-									RNA	SNP	ENST00000390360.3	37																																																																																						0.502	TRBV6-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351239.2	NG_001333		5	222	0	0	0	0.184627	0	5	222				
PCDHGA3	56112	broad.mit.edu	37	5	140725403	140725403	+	Silent	SNP	C	C	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr5:140725403C>T	ENST00000253812.6	+	1	1803	c.1803C>T	c.(1801-1803)aaC>aaT	p.N601N	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N601N(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCCAGAACGCCTGGCTGT	0.697																																						ENST00000253812.6																			1	Substitution - coding silent(1)	p.N601N(1)	prostate(1)	breast(1)	1						c.(1801-1803)aaC>aaT									17.0	21.0	20.0					5																	140725403		2166	4260	6426	SO:0001819	synonymous_variant	0							g.chr5:140725403C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1803C>T	5.37:g.140725403C>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.N601N	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1803	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.1803C>T	CCDS47290.1																																																																																				0.697	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		11	39	0	0	0	0.557998	0	11	39				
ASCC3	10973	broad.mit.edu	37	6	101166013	101166013	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr6:101166013C>A	ENST00000369162.2	-	12	2361	c.2017G>T	c.(2017-2019)Gat>Tat	p.D673Y	ASCC3_ENST00000522650.1_Missense_Mutation_p.D673Y	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	673					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.D673Y(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAACGGCCATCAAAGAAGAAA	0.343																																						ENST00000369162.2																			1	Substitution - Missense(1)	p.D673Y(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(2017-2019)Gat>Tat		activating signal cointegrator 1 complex subunit 3							98.0	95.0	96.0					6																	101166013		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101166013C>A	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.2017G>T	6.37:g.101166013C>A	ENSP00000358159:p.Asp673Tyr					ASCC3_ENST00000522650.1_Missense_Mutation_p.D673Y	p.D673Y	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	12	2361	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	673					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.2017G>T	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943894	0.92593	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	D;T	0.91792	-2.91;-0.02	5.51	5.51	0.81932	DEAD-like helicase (1);ATPase, AAA+ type, core (1);	0.055071	0.64402	D	0.000001	D	0.97545	0.9196	H	0.96239	3.79	0.80722	D	1	P;D	0.89917	0.954;1.0	P;D	0.83275	0.702;0.996	D	0.98474	1.0602	10	0.87932	D	0	.	19.4031	0.94639	0.0:1.0:0.0:0.0	.	673;673	E7EW23;Q8N3C0	.;HELC1_HUMAN	Y	673	ENSP00000358159:D673Y;ENSP00000430769:D673Y	ENSP00000358159:D673Y	D	-	1	0	ASCC3	101272734	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.818000	0.86416	2.587000	0.87381	0.585000	0.79938	GAT		0.343	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		44	117	1	0	6.21074e-16	0.859065	7.79646e-16	44	117				
CELF2	10659	broad.mit.edu	37	10	11330491	11330491	+	Missense_Mutation	SNP	G	G	A	rs557804153		TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr10:11330491G>A	ENST00000379261.4	+	9	1023	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	CELF2_ENST00000427450.1_Missense_Mutation_p.A287T|CELF2_ENST00000608830.1_Missense_Mutation_p.A287T|CELF2_ENST00000450189.1_Missense_Mutation_p.A318T|CELF2_ENST00000417956.2_Missense_Mutation_p.A287T|CELF2_ENST00000542579.1_Missense_Mutation_p.A318T|CELF2_ENST00000354440.2_Missense_Mutation_p.A287T|CELF2_ENST00000399850.3_Missense_Mutation_p.A287T|CELF2_ENST00000315874.4_Missense_Mutation_p.A287T|CELF2_ENST00000609692.1_Missense_Mutation_p.A287T|CELF2_ENST00000354897.3_Missense_Mutation_p.A287T|CELF2_ENST00000537122.1_Missense_Mutation_p.A200T|CELF2_ENST00000416382.2_Missense_Mutation_p.A311T	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	311	Ala-rich.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A306T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CACGAGCAGCGCCCTGGGAGC	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16713	0.0		0.0	False		,,,				2504	0.0					ENST00000379261.4																			1	Substitution - Missense(1)	p.A306T(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(931-933)Gcc>Acc		CUGBP, Elav-like family member 2							31.0	35.0	34.0					10																	11330491		2054	4190	6244	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11330491G>A	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.931G>A	10.37:g.11330491G>A	ENSP00000368563:p.Ala311Thr					CELF2_ENST00000427450.1_Missense_Mutation_p.A287T|CELF2_ENST00000542579.1_Missense_Mutation_p.A318T|CELF2_ENST00000399850.3_Missense_Mutation_p.A287T|CELF2_ENST00000417956.2_Missense_Mutation_p.A287T|CELF2_ENST00000315874.3_Missense_Mutation_p.A287T|CELF2_ENST00000354440.2_Missense_Mutation_p.A287T|CELF2_ENST00000354897.3_Missense_Mutation_p.A287T|CELF2_ENST00000416382.2_Missense_Mutation_p.A311T|CELF2_ENST00000450189.1_Missense_Mutation_p.A318T|CELF2_ENST00000537122.1_Missense_Mutation_p.A200T	p.A311T	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			9	1023	+			311			Ala-rich.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.931G>A	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126636	0.56721	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	4.86	4.86	0.63082	.	0.123147	0.56097	D	0.000040	T	0.32224	0.0822	L	0.29908	0.895	0.58432	D	0.999996	P;B;D;B;B;P;P	0.56287	0.913;0.443;0.975;0.342;0.027;0.884;0.913	B;B;B;B;B;B;B	0.39904	0.163;0.035;0.313;0.024;0.015;0.115;0.163	T	0.09037	-1.0693	10	0.27785	T	0.31	-11.9687	18.0169	0.89243	0.0:0.0:1.0:0.0	.	295;311;83;306;318;306;311	B4DDE7;B4DS31;B4DMB0;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;.;CELF2_HUMAN	T	311;311;318;318;287;287;287;287;287;287;200;117	ENSP00000368563:A311T;ENSP00000406451:A311T;ENSP00000389951:A318T;ENSP00000443926:A318T;ENSP00000382743:A287T;ENSP00000404834:A287T;ENSP00000315328:A287T;ENSP00000346426:A287T;ENSP00000388530:A287T;ENSP00000438884:A200T	ENSP00000315328:A287T	A	+	1	0	CELF2	11370497	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.175000	0.65021	2.267000	0.75376	0.460000	0.39030	GCC		0.637	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				10	45	0	0	0	0.457914	0	10	45				
COPA	1314	broad.mit.edu	37	1	160276964	160276964	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr1:160276964G>A	ENST00000241704.7	-	14	1520	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	COPA_ENST00000368069.3_Missense_Mutation_p.R431W	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	431					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)	p.R431W(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAATGCATCCGATCTAGGACA	0.478																																						ENST00000241704.7																			1	Substitution - Missense(1)	p.R431W(1)	prostate(1)	central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(1291-1293)Cgg>Tgg		coatomer protein complex, subunit alpha							168.0	164.0	165.0					1																	160276964		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160276964G>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1291C>T	1.37:g.160276964G>A	ENSP00000241704:p.Arg431Trp					COPA_ENST00000368069.3_Missense_Mutation_p.R431W	p.R431W	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		14	1520	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		431					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.1291C>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581389	0.86748	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.62364	0.05;0.03	5.46	5.46	0.80206	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	T	0.81671	-0.0827	10	0.87932	D	0	-17.1783	18.0325	0.89289	0.0:0.0:1.0:0.0	.	431;431	P53621;P53621-2	COPA_HUMAN;.	W	431	ENSP00000357048:R431W;ENSP00000241704:R431W	ENSP00000241704:R431W	R	-	1	2	COPA	158543588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.405000	0.80007	2.847000	0.97988	0.591000	0.81541	CGG		0.478	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		7	297	0	0	0	0.307466	0	7	297				
DOCK3	1795	broad.mit.edu	37	3	51413195	51413195	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:51413195G>A	ENST00000266037.9	+	51	5452	c.5429G>A	c.(5428-5430)cGa>cAa	p.R1810Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1810					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R1810Q(2)|p.R1799Q(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AATTTCCAGCGAGCCCTGTTC	0.527																																						ENST00000266037.9																			3	Substitution - Missense(3)	p.R1810Q(2)|p.R1799Q(1)	prostate(3)	breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5428-5430)cGa>cAa		dedicator of cytokinesis 3							114.0	126.0	122.0					3																	51413195		2071	4189	6260	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51413195G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5429G>A	3.37:g.51413195G>A	ENSP00000266037:p.Arg1810Gln						p.R1810Q	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	51	5452	+			1810					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.5429G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754811	0.49362	.	.	ENSG00000088538	ENST00000266037	T	0.57752	0.38	5.11	4.23	0.50019	.	0.075264	0.49916	D	0.000124	T	0.52289	0.1725	M	0.68317	2.08	0.49915	D	0.999837	P	0.52061	0.95	B	0.40864	0.342	T	0.60296	-0.7291	10	0.56958	D	0.05	.	15.5465	0.76104	0.0:0.1386:0.8614:0.0	.	1810	Q8IZD9	DOCK3_HUMAN	Q	1810	ENSP00000266037:R1810Q	ENSP00000266037:R1810Q	R	+	2	0	DOCK3	51388235	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	7.141000	0.77330	1.129000	0.42072	0.655000	0.94253	CGA		0.527	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		6	220	0	0	0	0.217242	0	6	220				
ABCG1	9619	broad.mit.edu	37	21	43702403	43702403	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr21:43702403C>A	ENST00000361802.2	+	6	753	c.608C>A	c.(607-609)gCg>gAg	p.A203E	ABCG1_ENST00000398457.2_Missense_Mutation_p.A205E|ABCG1_ENST00000343687.3_Missense_Mutation_p.A214E|ABCG1_ENST00000347800.2_Missense_Mutation_p.A200E|ABCG1_ENST00000398437.1_Missense_Mutation_p.A349E|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.A203E|ABCG1_ENST00000340588.4_Missense_Mutation_p.A311E	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	203	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)	p.A205E(1)|p.A203E(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	ATACTGACAGCGCTGGGCTTG	0.637																																						ENST00000398437.1																			2	Substitution - Missense(2)	p.A205E(1)|p.A203E(1)	prostate(2)	breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(1045-1047)gCg>gAg		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						58.0	56.0	57.0					21																	43702403		2203	4300	6503	SO:0001583	missense	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43702403C>A	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.608C>A	21.37:g.43702403C>A	ENSP00000354995:p.Ala203Glu					ABCG1_ENST00000340588.4_Missense_Mutation_p.A311E|ABCG1_ENST00000398457.2_Missense_Mutation_p.A205E|ABCG1_ENST00000347800.2_Missense_Mutation_p.A200E|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Missense_Mutation_p.A214E|ABCG1_ENST00000398449.3_Missense_Mutation_p.A203E|ABCG1_ENST00000361802.2_Missense_Mutation_p.A203E	p.A349E			P45844	ABCG1_HUMAN			7	1194	+			203					Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Missense_Mutation	SNP	ENST00000361802.2	37	c.1046C>A	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630296	0.46944	.	.	ENSG00000160179	ENST00000398457;ENST00000347800;ENST00000450121;ENST00000398449;ENST00000361802;ENST00000343687;ENST00000398437;ENST00000340588	D;D;D;D;D;D;D;D	0.84944	-1.92;-1.92;-1.73;-1.92;-1.92;-1.92;-1.92;-1.92	4.27	4.27	0.50696	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.82351	0.5018	N	0.03967	-0.31	0.80722	D	1	P;B;P;B;B;D	0.89917	0.519;0.025;0.926;0.025;0.025;1.0	B;B;P;B;B;D	0.87578	0.246;0.032;0.877;0.032;0.032;0.998	T	0.83265	-0.0046	9	.	.	.	-19.0378	17.065	0.86556	0.0:1.0:0.0:0.0	.	214;214;203;203;200;205	B4DPT7;P45844-2;P45844;P45844-4;P45844-5;P45844-3	.;.;ABCG1_HUMAN;.;.;.	E	205;200;186;203;203;214;349;311	ENSP00000381475:A205E;ENSP00000291524:A200E;ENSP00000414541:A186E;ENSP00000381467:A203E;ENSP00000354995:A203E;ENSP00000339744:A214E;ENSP00000381464:A349E;ENSP00000343820:A311E	.	A	+	2	0	ABCG1	42575472	1.000000	0.71417	0.929000	0.37066	0.894000	0.52154	7.435000	0.80391	2.093000	0.63338	0.591000	0.81541	GCG		0.637	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		5	80	1	0	0.000602214	0.184627	0.000696679	5	80				
FAM83G	644815	broad.mit.edu	37	17	18874710	18874710	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr17:18874710G>A	ENST00000388995.6	-	6	2657	c.2434C>T	c.(2434-2436)Cgg>Tgg	p.R812W	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R812W|FAM83G_ENST00000345041.4_Missense_Mutation_p.R812W			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	812					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.R812W(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGAGCCCTCCGTTTAGAATCC	0.622																																						ENST00000388995.6																			1	Substitution - Missense(1)	p.R812W(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(2434-2436)Cgg>Tgg		family with sequence similarity 83, member G							52.0	63.0	59.0					17																	18874710		2131	4231	6362	SO:0001583	missense	644815							g.chr17:18874710G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2434C>T	17.37:g.18874710G>A	ENSP00000373647:p.Arg812Trp					FAM83G_ENST00000345041.4_Missense_Mutation_p.R812W|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R812W|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron	p.R812W			A6ND36	FA83G_HUMAN			6	2657	-			812					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.2434C>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048972	0.75846	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.18657	2.2;2.2	5.54	4.5	0.54988	.	0.477725	0.20761	N	0.086169	T	0.43411	0.1246	M	0.72894	2.215	0.36829	D	0.886794	D	0.76494	0.999	D	0.65010	0.931	T	0.50693	-0.8798	10	0.72032	D	0.01	-33.3609	14.4256	0.67212	0.0:0.0:0.8519:0.1481	.	812	A6ND36	FA83G_HUMAN	W	812	ENSP00000373647:R812W;ENSP00000343279:R812W	ENSP00000343279:R812W	R	-	1	2	FAM83G	18815435	1.000000	0.71417	0.973000	0.42090	0.687000	0.40016	3.447000	0.52936	2.768000	0.95171	0.561000	0.74099	CGG		0.622	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			14	69	0	0	0	0.681144	0	14	69				
CCNL2	81669	broad.mit.edu	37	1	1333666	1333666	+	Silent	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr1:1333666G>A	ENST00000400809.3	-	3	425	c.420C>T	c.(418-420)cgC>cgT	p.R140R	RP4-758J18.2_ENST00000448629.2_5'Flank|CCNL2_ENST00000408918.4_Silent_p.R140R|RP4-758J18.2_ENST00000444362.1_5'Flank|CCNL2_ENST00000408952.5_5'UTR|RP4-758J18.2_ENST00000576232.1_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	140	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R140R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CGTCCCGTATGCGTCTTGGGG	0.502																																						ENST00000400809.3																			1	Substitution - coding silent(1)	p.R140R(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(418-420)cgC>cgT		cyclin L2							205.0	176.0	186.0					1																	1333666		2203	4300	6503	SO:0001819	synonymous_variant	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1333666G>A	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.420C>T	1.37:g.1333666G>A						CCNL2_ENST00000408918.4_Silent_p.R140R|CCNL2_ENST00000408952.5_5'UTR	p.R140R	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	3	425	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	140			Cyclin-like 1.		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Silent	SNP	ENST00000400809.3	37	c.420C>T	CCDS30557.1																																																																																				0.502	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		51	195	0	0	0	0.870114	0	51	195				
USP32P2	220594	broad.mit.edu	37	17	18416592	18416592	+	RNA	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr17:18416592G>A	ENST00000425211.1	-	0	2677				USP32P2_ENST00000412260.1_RNA																							CAGCCAGAGTGGTAGCTTTAC	0.428																																						ENST00000425211.1																			0																																																			0							g.chr17:18416592G>A																													17.37:g.18416592G>A														0	2677	-									RNA	SNP	ENST00000425211.1	37																																																																																						0.428	CTD-2303H24.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473021.1			13	54	0	0	0	0.435327	0	13	54				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			3	120	0	0	0	0.184627	0	3	120				
ANK1	286	broad.mit.edu	37	8	41572581	41572581	+	Silent	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr8:41572581G>A	ENST00000347528.4	-	15	1697	c.1614C>T	c.(1612-1614)acC>acT	p.T538T	ANK1_ENST00000289734.7_Silent_p.T538T|ANK1_ENST00000352337.4_Silent_p.T538T|ANK1_ENST00000265709.8_Silent_p.T571T|ANK1_ENST00000379758.2_Silent_p.T538T|ANK1_ENST00000396945.1_Silent_p.T538T|ANK1_ENST00000396942.1_Silent_p.T538T	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	538	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T538T(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGTGCAGAGGGGTAAATCCTT	0.627																																						ENST00000396942.1																			1	Substitution - coding silent(1)	p.T538T(1)	prostate(1)	breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(1612-1614)acC>acT		ankyrin 1, erythrocytic							60.0	62.0	61.0					8																	41572581		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41572581G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1614C>T	8.37:g.41572581G>A						ANK1_ENST00000265709.8_Silent_p.T571T|ANK1_ENST00000289734.7_Silent_p.T538T|ANK1_ENST00000347528.4_Silent_p.T538T|ANK1_ENST00000396945.1_Silent_p.T538T|ANK1_ENST00000379758.2_Silent_p.T538T|ANK1_ENST00000352337.4_Silent_p.T538T	p.T538T			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		15	1697	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	538			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.1614C>T	CCDS6119.1																																																																																				0.627	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		22	91	0	0	0	0.667858	0	22	91				
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A	rs371682346		TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1				BMS1 pseudogene 20																		CAGACTAAAGGCAAACAAGGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664743G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664743G>A								NR_027293.1						0	924	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	82	0	0	0	0.184627	0	4	82				
OR8J1	219477	broad.mit.edu	37	11	56128312	56128312	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr11:56128312C>T	ENST00000303039.3	+	1	622	c.590C>T	c.(589-591)aCa>aTa	p.T197I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T197I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTACCAGAAACAGTTGTCTTT	0.294																																						ENST00000303039.3																			1	Substitution - Missense(1)	p.T197I(1)	prostate(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47						c.(589-591)aCa>aTa		olfactory receptor, family 8, subfamily J, member 1							162.0	151.0	154.0					11																	56128312		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56128312C>T	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.590C>T	11.37:g.56128312C>T	ENSP00000304060:p.Thr197Ile						p.T197I	NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN			1	622	+	Esophageal squamous(21;0.00448)		197					B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.590C>T	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	C	2.579	-0.297953	0.05532	.	.	ENSG00000172487	ENST00000303039	T	0.00039	8.85	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.00073	0.0002	N	0.02960	-0.455	0.09310	N	1	B	0.15141	0.012	B	0.27887	0.084	T	0.10520	-1.0626	10	0.17369	T	0.5	.	7.5832	0.27976	0.0:0.8824:0.0:0.1176	.	197	Q8NGP2	OR8J1_HUMAN	I	197	ENSP00000304060:T197I	ENSP00000304060:T197I	T	+	2	0	OR8J1	55884888	0.000000	0.05858	0.702000	0.30337	0.135000	0.20990	0.645000	0.24782	2.185000	0.69588	0.549000	0.68633	ACA		0.294	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		50	140	0	0	0	0.870114	0	50	140				
ROBO2	6092	broad.mit.edu	37	3	77147227	77147227	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:77147227G>A	ENST00000461745.1	+	2	1024	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	ROBO2_ENST00000332191.8_Missense_Mutation_p.V42I|ROBO2_ENST00000487694.3_Missense_Mutation_p.V58I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	42	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.V42I(1)|p.V58I(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CGATGTCATCGTCTCTAAGGG	0.547																																						ENST00000461745.1																			2	Substitution - Missense(2)	p.V42I(1)|p.V58I(1)	prostate(2)	NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(124-126)Gtc>Atc		roundabout, axon guidance receptor, homolog 2 (Drosophila)							46.0	50.0	49.0					3																	77147227		1960	4140	6100	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77147227G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.124G>A	3.37:g.77147227G>A	ENSP00000417164:p.Val42Ile					ROBO2_ENST00000487694.3_Missense_Mutation_p.V58I|ROBO2_ENST00000332191.8_Missense_Mutation_p.V42I	p.V42I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	2	1024	+			42			Ig-like C2-type 1.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.124G>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962860	0.74016	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.70282	-0.47;-0.47;-0.47	4.96	4.96	0.65561	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34879	U	0.003604	T	0.79064	0.4383	L	0.38953	1.18	0.43107	D	0.994806	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.995;0.998	T	0.81611	-0.0854	9	0.72032	D	0.01	.	18.2024	0.89843	0.0:0.0:1.0:0.0	.	58;42;42	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	I	58;58;58;42;42	ENSP00000417335:V58I;ENSP00000417164:V42I;ENSP00000327536:V42I	ENSP00000327536:V42I	V	+	1	0	ROBO2	77229917	1.000000	0.71417	0.983000	0.44433	0.027000	0.11550	9.864000	0.99589	2.283000	0.76528	0.655000	0.94253	GTC		0.547	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		12	36	0	0	0	0.387290	0	12	36				
FIGN	55137	broad.mit.edu	37	2	164467945	164467945	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr2:164467945C>T	ENST00000333129.3	-	3	711	c.397G>A	c.(397-399)Gct>Act	p.A133T	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	133					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.A133T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTGACTCCAGCTTTGCTGGCA	0.498																																						ENST00000333129.3																			1	Substitution - Missense(1)	p.A133T(1)	prostate(1)	breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(397-399)Gct>Act		fidgetin							110.0	105.0	106.0					2																	164467945		1960	4151	6111	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467945C>T	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.397G>A	2.37:g.164467945C>T	ENSP00000333836:p.Ala133Thr					FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	p.A133T	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	711	-			133					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.397G>A	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825137	0.32237	.	.	ENSG00000182263	ENST00000333129	T	0.23552	1.9	6.07	6.07	0.98685	.	0.172677	0.51477	D	0.000098	T	0.20007	0.0481	N	0.19112	0.55	0.45822	D	0.998697	B	0.12630	0.006	B	0.06405	0.002	T	0.09207	-1.0685	10	0.16896	T	0.51	-7.4814	20.6593	0.99626	0.0:1.0:0.0:0.0	.	133	Q5HY92	FIGN_HUMAN	T	133	ENSP00000333836:A133T	ENSP00000333836:A133T	A	-	1	0	FIGN	164176191	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.877000	0.63086	2.885000	0.99019	0.655000	0.94253	GCT		0.498	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		80	230	0	0	0	0.870114	0	80	230				
NBPF1	55672	broad.mit.edu	37	1	16918514	16918514	+	Start_Codon_SNP	SNP	C	C	A	rs374735184		TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr1:16918514C>A	ENST00000430580.2	-	7	890	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1						cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTGATACCACCATGCTGACGT	0.483																																						ENST00000430580.2																			0											c.(1-3)atG>atT		neuroblastoma breakpoint family, member 1							259.0	261.0	260.0					1																	16918514		2197	4299	6496	SO:0001582	initiator_codon_variant	55672					cytoplasm		g.chr1:16918514C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3G>T	1.37:g.16918514C>A	ENSP00000474456:p.Met1Ile						p.M1I	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	7	890	-			1					Q8N4E8|Q9C0H0	Translation_Start_Site	SNP	ENST00000430580.2	37	c.3G>T																																																																																					0.483	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Missense_Mutation	40	852	1	0	3.76114e-14	0.796494	4.62306e-14	40	852				
LINC00971	440970	broad.mit.edu	37	3	84741480	84741480	+	lincRNA	DEL	A	A	-	rs71104976		TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1				long intergenic non-protein coding RNA 971																		CCTGTCCCAGAAAAAAAAAAA	0.388																																						ENST00000484892.1																			0																																																			0							g.chr3:84741480delA			3p12.1	2013-06-07			ENSG00000242641	ENSG00000242641		"""Long non-coding RNAs"""	48737	non-coding RNA	RNA, long non-coding							Standard	NR_033860		Approved				OTTHUMG00000158981		3.37:g.84741480delA								NR_033860.1						0	2354	-									RNA	DEL	ENST00000484892.1	37																																																																																						0.388	LINC00971-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000352776.2			5	7						5	7	---	---	---	---
DAPK1	1612	broad.mit.edu	37	9	90321801	90321802	+	Frame_Shift_Ins	INS	-	-	G	rs56169226	byFrequency	TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr9:90321801_90321802insG	ENST00000408954.3	+	26	4150_4151	c.3815_3816insG	c.(3814-3819)atggggfs	p.MG1272fs	DAPK1_ENST00000469640.2_Frame_Shift_Ins_p.MG1297fs|DAPK1_ENST00000491893.1_Frame_Shift_Ins_p.MG1206fs|DAPK1_ENST00000472284.1_Frame_Shift_Ins_p.MG1272fs|DAPK1_ENST00000358077.5_Frame_Shift_Ins_p.MG1272fs	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1272			M -> I (in dbSNP:rs56169226). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Y1276fs*31(1)|p.Y1275fs*31(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACCAACACCATGGGGGGGTACA	0.584									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			2	Deletion - Frameshift(2)	p.Y1276fs*31(1)|p.Y1275fs*31(1)	large_intestine(2)	breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(3889-3891)aggfs		death-associated protein kinase 1																																				SO:0001589	frameshift_variant	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90321801_90321802insG	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.3822dupG	9.37:g.90321808_90321808dupG	ENSP00000386135:p.Met1272fs					DAPK1_ENST00000472284.1_Frame_Shift_Ins_p.R1272fs|DAPK1_ENST00000408954.3_Frame_Shift_Ins_p.R1272fs|DAPK1_ENST00000358077.5_Frame_Shift_Ins_p.R1272fs|DAPK1_ENST00000491893.1_Frame_Shift_Ins_p.R1206fs	p.R1297fs			P53355	DAPK1_HUMAN			27	4265_4266	+			1272					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Frame_Shift_Ins	INS	ENST00000408954.3	37	c.3890_3891insG	CCDS43842.1																																																																																				0.584	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		28	126						28	126	---	---	---	---
