#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
STAB2	55576	broad.mit.edu	37	12	104048409	104048409	+	Missense_Mutation	SNP	A	A	G	rs527425197		TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr12:104048409A>G	ENST00000388887.2	+	13	1688	c.1484A>G	c.(1483-1485)aAt>aGt	p.N495S	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATTGCTTCCAATGGGCTTCTG	0.393																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(1483-1485)aAt>aGt		stabilin 2							91.0	85.0	87.0					12																	104048409		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104048409A>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1484A>G	12.37:g.104048409A>G	ENSP00000373539:p.Asn495Ser						p.N495S	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			13	1688	+			495			FAS1 1.			Missense_Mutation	SNP	ENST00000388887.2	37	c.1484A>G	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.931995	0.73442	.	.	ENSG00000136011	ENST00000388887	D	0.92545	-3.06	5.8	5.8	0.92144	FAS1 domain (5);	0.000000	0.85682	D	0.000000	D	0.96864	0.8976	M	0.91090	3.175	0.45261	D	0.998262	D	0.89917	1.0	D	0.87578	0.998	D	0.97619	1.0134	10	0.72032	D	0.01	.	15.834	0.78782	1.0:0.0:0.0:0.0	.	495	Q8WWQ8	STAB2_HUMAN	S	495	ENSP00000373539:N495S	ENSP00000373539:N495S	N	+	2	0	STAB2	102572539	1.000000	0.71417	0.983000	0.44433	0.596000	0.36781	7.342000	0.79310	2.227000	0.72691	0.460000	0.39030	AAT		0.393	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			32	44	0	0	0	1	0	32	44				
OR52A1	23538	broad.mit.edu	37	11	5173454	5173454	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr11:5173454C>T	ENST00000380367.1	-	2	563	c.146G>A	c.(145-147)aGc>aAc	p.S49N	OR52A1_ENST00000328942.1_Missense_Mutation_p.S49N			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	49					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGATGATGCTCAGAAGCAA	0.463																																						ENST00000380367.1																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19						c.(145-147)aGc>aAc		olfactory receptor, family 52, subfamily A, member 1							80.0	74.0	76.0					11																	5173454		2201	4297	6498	SO:0001583	missense	23538				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr11:5173454C>T	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.146G>A	11.37:g.5173454C>T	ENSP00000369725:p.Ser49Asn					OR52A1_ENST00000328942.1_Missense_Mutation_p.S49N	p.S49N			Q9UKL2	O52A1_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	563	-		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)	49					Q6IF31	Missense_Mutation	SNP	ENST00000380367.1	37	c.146G>A	CCDS31374.1	.	.	.	.	.	.	.	.	.	.	c	4.939	0.174413	0.09391	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.03004	4.08;4.08	5.37	-0.306	0.12780	GPCR, rhodopsin-like superfamily (1);	1.335760	0.05045	N	0.477113	T	0.04815	0.0130	L	0.52573	1.65	0.09310	N	1	B	0.20261	0.043	B	0.20184	0.028	T	0.45396	-0.9264	10	0.66056	D	0.02	.	3.5602	0.07880	0.5369:0.2681:0.083:0.112	.	49	Q9UKL2	O52A1_HUMAN	N	49	ENSP00000369725:S49N;ENSP00000333684:S49N	ENSP00000333684:S49N	S	-	2	0	OR52A1	5130030	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.242000	0.08928	-0.143000	0.11334	-1.021000	0.02439	AGC		0.463	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142810.2	NM_012375		26	40	0	0	0	1	0	26	40				
NMNAT1	64802	broad.mit.edu	37	1	10032159	10032159	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr1:10032159G>C	ENST00000377205.1	+	2	172	c.28G>C	c.(28-30)Gtt>Ctt	p.V10L	NMNAT1_ENST00000492735.1_3'UTR|NMNAT1_ENST00000403197.1_Missense_Mutation_p.V10L	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	10					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		GACTGAAGTGGTTCTCCTTGC	0.428																																						ENST00000377205.1																			0				large_intestine(2)|lung(2)|stomach(1)	5						c.(28-30)Gtt>Ctt		nicotinamide nucleotide adenylyltransferase 1							219.0	219.0	219.0					1																	10032159		2203	4300	6503	SO:0001583	missense	64802				water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding	g.chr1:10032159G>C	AF312734	CCDS108.1, CCDS72698.1	1p36.22	2014-01-28	2003-04-30	2003-05-02	ENSG00000173614	ENSG00000173614	2.7.7.1		17877	protein-coding gene	gene with protein product		608700	"""nicotinamide nucleotide adenylyltransferase"", ""Leber congenital amaurosis 9"", ""Leber's congenital amaurosis 9"""	LCA9		11248244, 11027696, 22842227	Standard	XR_244792		Approved	NMNAT, PNAT1	uc001aqp.3	Q9HAN9	OTTHUMG00000001799	ENST00000377205.1:c.28G>C	1.37:g.10032159G>C	ENSP00000366410:p.Val10Leu					NMNAT1_ENST00000492735.1_3'UTR|NMNAT1_ENST00000403197.1_Missense_Mutation_p.V10L	p.V10L	NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)	2	172	+		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	10					B1AN63|Q8TAE9|Q9H247|Q9H6B6	Missense_Mutation	SNP	ENST00000377205.1	37	c.28G>C	CCDS108.1	.	.	.	.	.	.	.	.	.	.	g	18.22	3.575854	0.65878	.	.	ENSG00000173614	ENST00000403197;ENST00000377205	D;D	0.97811	-4.55;-4.55	3.92	3.92	0.45320	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.98018	0.9347	M	0.63208	1.945	0.58432	D	0.999999	D	0.76494	0.999	D	0.65323	0.934	D	0.97764	1.0222	10	0.38643	T	0.18	-3.3777	16.5309	0.84359	0.0:0.0:1.0:0.0	.	10	Q9HAN9	NMNA1_HUMAN	L	10	ENSP00000385131:V10L;ENSP00000366410:V10L	ENSP00000366410:V10L	V	+	1	0	NMNAT1	9954746	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.297000	0.78799	2.181000	0.69327	0.454000	0.30748	GTT		0.428	NMNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005029.1			79	140	0	0	0	1	0	79	140				
RPLP0P2	113157	broad.mit.edu	37	11	61405030	61405030	+	RNA	SNP	T	T	A			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr11:61405030T>A	ENST00000496593.1	+	0	1634					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		ctgctgctgctgcAGCCCCAG	0.552																																						ENST00000496593.1																			0																																																			0							g.chr11:61405030T>A	BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61405030T>A								NR_002775.2						0	1634	+									RNA	SNP	ENST00000496593.1	37																																																																																						0.552	RPLP0P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000350911.1	NR_002775		3	57	0	0	0	1	0	3	57				
COL9A2	1298	broad.mit.edu	37	1	40780025	40780025	+	Splice_Site	SNP	G	G	A			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr1:40780025G>A	ENST00000372748.3	-	3	281	c.185C>T	c.(184-186)cCg>cTg	p.P62L		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	62	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AGCACTCACCGGAGGGCCAGC	0.557																																						ENST00000372748.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.e3+1		collagen, type IX, alpha 2							114.0	121.0	119.0					1																	40780025		2203	4300	6503	SO:0001630	splice_region_variant	1298				axon guidance|skeletal system development	collagen type IX		g.chr1:40780025G>A	M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.186+1C>T	1.37:g.40780025G>A							p.P62_splice	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		3	281	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	62			Triple-helical region 4 (COL4).		B2RMP9	Splice_Site	SNP	ENST00000372748.3	37	c.186_splice	CCDS450.1	.	.	.	.	.	.	.	.	.	.	.	14.82	2.650492	0.47362	.	.	ENSG00000049089	ENST00000372748	D	0.98684	-5.07	5.15	4.24	0.50183	.	0.219310	0.39759	N	0.001280	D	0.97173	0.9076	M	0.75085	2.285	0.54753	D	0.999987	B	0.29671	0.254	B	0.24006	0.05	D	0.95929	0.8937	10	0.59425	D	0.04	.	9.6095	0.39654	0.0964:0.0:0.9036:0.0	.	62	Q14055	CO9A2_HUMAN	L	62	ENSP00000361834:P62L	ENSP00000361834:P62L	P	-	2	0	COL9A2	40552612	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.198000	0.51035	1.180000	0.42898	-0.136000	0.14681	CCG		0.557	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3	NM_001852	Missense_Mutation	4	75	0	0	0	1	0	4	75				
CLEC6A	93978	broad.mit.edu	37	12	8618186	8618186	+	Missense_Mutation	SNP	G	G	T	rs141203382	byFrequency	TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr12:8618186G>T	ENST00000382073.3	+	4	516	c.330G>T	c.(328-330)atG>atT	p.M110I		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	110	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					GTGTTGAGATGGGAGCACATT	0.383																																						ENST00000382073.3																			0				breast(1)|large_intestine(2)|lung(7)	10						c.(328-330)atG>atT		C-type lectin domain family 6, member A							172.0	155.0	161.0					12																	8618186		2203	4300	6503	SO:0001583	missense	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8618186G>T	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.330G>T	12.37:g.8618186G>T	ENSP00000371505:p.Met110Ile						p.M110I	NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN			4	516	+	Lung SC(5;0.184)		110			C-type lectin.		A2RUK3	Missense_Mutation	SNP	ENST00000382073.3	37	c.330G>T	CCDS31739.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222048	0.39300	.	.	ENSG00000205846	ENST00000382073	T	0.17213	2.29	3.96	3.06	0.35304	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.165132	0.29106	N	0.013134	T	0.14614	0.0353	L	0.50993	1.605	0.19575	N	0.999962	B	0.34181	0.44	B	0.32090	0.14	T	0.16424	-1.0403	10	0.66056	D	0.02	.	7.423	0.27083	0.1178:0.0:0.8822:0.0	.	110	Q6EIG7	CLC6A_HUMAN	I	110	ENSP00000371505:M110I	ENSP00000371505:M110I	M	+	3	0	CLEC6A	8509453	1.000000	0.71417	0.268000	0.24571	0.682000	0.39822	1.885000	0.39678	1.234000	0.43709	0.557000	0.71058	ATG		0.383	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033		8	69	1	0	0.27861	1	0.27861	8	69				
ING1	3621	broad.mit.edu	37	13	111368196	111368196	+	Missense_Mutation	SNP	G	G	T	rs570284846		TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr13:111368196G>T	ENST00000375774.3	+	1	868	c.406G>T	c.(406-408)Ggg>Tgg	p.G136W	ING1_ENST00000333219.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	136					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.G136W(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGCCACTTTCGGGCGCGGATT	0.746																																						ENST00000375774.3																			1	Substitution - Missense(1)	p.G136W(1)	lung(1)	endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12						c.(406-408)Ggg>Tgg		inhibitor of growth family, member 1							9.0	12.0	11.0					13																	111368196		1998	4049	6047	SO:0001583	missense	3621				cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	g.chr13:111368196G>T		CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.406G>T	13.37:g.111368196G>T	ENSP00000364929:p.Gly136Trp					ING1_ENST00000333219.7_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron	p.G136W	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		1	868	+	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		136					O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	c.406G>T	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982512	0.53827	.	.	ENSG00000153487	ENST00000375774	T	0.58940	0.3	3.06	2.19	0.27852	.	.	.	.	.	T	0.56863	0.2014	N	0.19112	0.55	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.41034	-0.9531	9	0.87932	D	0	-6.3379	5.3466	0.16012	0.1615:0.0:0.8385:0.0	.	136	Q9UK53	ING1_HUMAN	W	136	ENSP00000364929:G136W	ENSP00000364929:G136W	G	+	1	0	ING1	110166197	0.022000	0.18835	0.235000	0.24058	0.003000	0.03518	1.581000	0.36558	1.714000	0.51371	0.511000	0.50034	GGG		0.746	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537		10	10	1	0	7.48243e-07	1	8.02992e-07	10	10				
PDILT	204474	broad.mit.edu	37	16	20410495	20410495	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr16:20410495C>T	ENST00000302451.4	-	2	376	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	43					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TAGGAGACTGCGTTCCTCCAG	0.592																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(127-129)cGc>cAc		protein disulfide isomerase-like, testis expressed							156.0	142.0	147.0					16																	20410495		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20410495C>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.128G>A	16.37:g.20410495C>T	ENSP00000305465:p.Arg43His						p.R43H	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			2	376	-			43					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.128G>A	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581482	0.28180	.	.	ENSG00000169340	ENST00000302451	T	0.03094	4.05	4.21	-5.08	0.02929	Thioredoxin-like fold (2);	2.670990	0.00877	N	0.002086	T	0.02688	0.0081	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.40701	-0.9549	10	0.37606	T	0.19	.	12.4944	0.55918	0.0:0.2179:0.0:0.7821	.	43	Q8N807	PDILT_HUMAN	H	43	ENSP00000305465:R43H	ENSP00000305465:R43H	R	-	2	0	PDILT	20317996	0.000000	0.05858	0.000000	0.03702	0.322000	0.28314	-1.299000	0.02754	-1.145000	0.02858	-0.469000	0.05056	CGC		0.592	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		40	53	0	0	0	1	0	40	53				
GLT8D2	83468	broad.mit.edu	37	12	104387275	104387275	+	Missense_Mutation	SNP	G	G	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr12:104387275G>T	ENST00000360814.4	-	10	1180	c.775C>A	c.(775-777)Ctc>Atc	p.L259I	GLT8D2_ENST00000546436.1_Missense_Mutation_p.L259I|GLT8D2_ENST00000548660.1_Missense_Mutation_p.L259I	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	259						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CTGCTATAGAGGTTTTCCCTA	0.438																																						ENST00000360814.4																			0				kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(775-777)Ctc>Atc		glycosyltransferase 8 domain containing 2							36.0	38.0	37.0					12																	104387275		2203	4300	6503	SO:0001583	missense	83468					integral to membrane	transferase activity, transferring glycosyl groups	g.chr12:104387275G>T	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.775C>A	12.37:g.104387275G>T	ENSP00000354053:p.Leu259Ile					GLT8D2_ENST00000546436.1_Missense_Mutation_p.L259I|GLT8D2_ENST00000548660.1_Missense_Mutation_p.L259I	p.L259I	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN			10	1180	-			259					Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	c.775C>A	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.871102	0.51695	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.22539	1.95;1.95;1.95	5.58	5.58	0.84498	.	0.055495	0.64402	D	0.000001	T	0.17450	0.0419	L	0.33485	1.01	0.80722	D	1	P	0.38129	0.619	B	0.33890	0.172	T	0.03202	-1.1061	10	0.25751	T	0.34	.	17.7571	0.88452	0.0:0.0:1.0:0.0	.	259	Q9H1C3	GL8D2_HUMAN	I	259	ENSP00000354053:L259I;ENSP00000449750:L259I;ENSP00000447450:L259I	ENSP00000354053:L259I	L	-	1	0	GLT8D2	102911405	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.551000	0.60740	2.627000	0.88993	0.655000	0.94253	CTC		0.438	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		3	18	1	0	0.115264	1	0.117945	3	18				
ZNF131	7690	broad.mit.edu	37	5	43175082	43175082	+	Silent	SNP	C	C	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr5:43175082C>T	ENST00000399534.1	+	7	1763	c.1719C>T	c.(1717-1719)aaC>aaT	p.N573N	ZNF131_ENST00000509156.1_Silent_p.N573N|ZNF131_ENST00000505606.2_Silent_p.N539N|ZNF131_ENST00000509634.1_Silent_p.N539N|ZNF131_ENST00000306938.4_Silent_p.N539N|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	573					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AAATCATGAACCAAGAGGAGA	0.488																																						ENST00000509634.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1615-1617)aaC>aaT		zinc finger protein 131							80.0	78.0	78.0					5																	43175082		1964	4159	6123	SO:0001819	synonymous_variant	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43175082C>T	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1719C>T	5.37:g.43175082C>T						ZNF131_ENST00000306938.4_Silent_p.N539N|ZNF131_ENST00000509156.1_Silent_p.N573N|ZNF131_ENST00000399534.1_Silent_p.N573N|ZNF131_ENST00000505606.2_Silent_p.N539N|ZNF131_ENST00000509931.1_Intron	p.N539N			P52739	ZN131_HUMAN			7	2073	+			573					B4DRL3|Q6PIF0	Silent	SNP	ENST00000399534.1	37	c.1617C>T																																																																																					0.488	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		24	34	0	0	0	1	0	24	34				
SH2D3C	10044	broad.mit.edu	37	9	130507029	130507029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr9:130507029C>T	ENST00000314830.8	-	7	1727	c.1614G>A	c.(1612-1614)tgG>tgA	p.W538*	SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.W381*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.W380*|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.W378*|SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.W184*|SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.W470*	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	538					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.W538C(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGTCTTGCCCCAGTCCCCTT	0.602																																						ENST00000314830.8																			2	Substitution - Missense(2)	p.W538C(2)	lung(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1612-1614)tgG>tgA		SH2 domain containing 3C							135.0	139.0	138.0					9																	130507029		2203	4300	6503	SO:0001587	stop_gained	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130507029C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1614G>A	9.37:g.130507029C>T	ENSP00000317817:p.Trp538*					SH2D3C_ENST00000373276.3_Nonsense_Mutation_p.W470*|SH2D3C_ENST00000373277.4_Nonsense_Mutation_p.W381*|SH2D3C_ENST00000420366.1_Nonsense_Mutation_p.W380*|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Nonsense_Mutation_p.W184*|SH2D3C_ENST00000373274.3_Nonsense_Mutation_p.W378*	p.W538*	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			7	1727	-			538					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Nonsense_Mutation	SNP	ENST00000314830.8	37	c.1614G>A	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.411513	0.83340	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	.	.	.	5.63	4.74	0.60224	.	0.713732	0.14423	N	0.320533	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-42.4967	10.0823	0.42397	0.0:0.8305:0.0:0.1695	.	.	.	.	X	381;380;470;378;184;538	.	ENSP00000317817:W538X	W	-	3	0	SH2D3C	129546850	0.992000	0.36948	1.000000	0.80357	0.209000	0.24338	1.261000	0.32980	1.381000	0.46364	-0.258000	0.10820	TGG		0.602	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		69	129	0	0	0	1	0	69	129				
PHF21B	112885	broad.mit.edu	37	22	45312456	45312456	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr22:45312456G>A	ENST00000313237.5	-	4	418	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	PHF21B_ENST00000396103.3_Missense_Mutation_p.R90W|PHF21B_ENST00000447824.3_Missense_Mutation_p.R78W|PHF21B_ENST00000404079.2_Missense_Mutation_p.R78W|PHF21B_ENST00000403565.1_5'UTR	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	90							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TTGGGTGGCCGGTCCCGGCCC	0.627																																						ENST00000313237.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25						c.(268-270)Cgg>Tgg		PHD finger protein 21B							41.0	46.0	44.0					22																	45312456		2203	4299	6502	SO:0001583	missense	112885						zinc ion binding	g.chr22:45312456G>A	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.268C>T	22.37:g.45312456G>A	ENSP00000324403:p.Arg90Trp					PHF21B_ENST00000447824.3_Missense_Mutation_p.R78W|PHF21B_ENST00000396103.3_Missense_Mutation_p.R90W|PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000404079.2_Missense_Mutation_p.R78W	p.R90W	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)	4	418	-		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)	90					B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	ENST00000313237.5	37	c.268C>T	CCDS14061.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624329	0.87560	.	.	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	5.06	4.01	0.46588	.	0.484333	0.18657	N	0.134824	T	0.39784	0.1091	L	0.40543	1.245	0.33043	D	0.531695	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;P;P;P	0.64237	0.923;0.862;0.732;0.794	T	0.52094	-0.8621	10	0.72032	D	0.01	-4.4185	14.8942	0.70630	0.0:0.0:0.8564:0.1436	.	78;90;78;90	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	W	90;90;78;78;78	ENSP00000324403:R90W;ENSP00000379410:R90W;ENSP00000385105:R78W;ENSP00000388619:R78W;ENSP00000401294:R78W	ENSP00000324403:R90W	R	-	1	2	PHF21B	43691120	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.549000	0.67261	2.346000	0.79739	0.655000	0.94253	CGG		0.627	PHF21B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321731.2	NM_138415		15	29	0	0	0	1	0	15	29				
GPR50	9248	broad.mit.edu	37	X	150345372	150345372	+	Missense_Mutation	SNP	G	G	A	rs375887607		TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chrX:150345372G>A	ENST00000218316.3	+	1	248	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	60					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.R60Q(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAAGCTCCGGAATTCTGGT	0.483																																						ENST00000218316.3																			2	Substitution - Missense(2)	p.R60Q(2)	large_intestine(2)	breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(178-180)cGg>cAg		G protein-coupled receptor 50		C	GLN/ARG	0,3240		0,0,1335,570	134.0	130.0	131.0		179	3.5	1.0	X		131	1,6429		0,1,2323,1782	no	missense	GPR50	NM_004224.3	43	0,1,3658,2352	AA,AG,GG,G		0.0156,0.0,0.0103	possibly-damaging	60/618	150345372	1,9669	1905	4106	6011	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150345372G>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.179G>A	X.37:g.150345372G>A	ENSP00000218316:p.Arg60Gln					GPR50-AS1_ENST00000454196.1_RNA	p.R60Q	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			1	248	+	Acute lymphoblastic leukemia(192;6.56e-05)		60					Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.179G>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	g	11.10	1.538218	0.27475	0.0	1.56E-4	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.42131	0.98	4.4	3.54	0.40534	GPCR, rhodopsin-like superfamily (1);	0.367002	0.26708	N	0.022905	T	0.38401	0.1039	M	0.62154	1.92	0.28944	N	0.890819	P;P	0.44734	0.842;0.61	B;B	0.39805	0.213;0.31	T	0.39251	-0.9623	10	0.54805	T	0.06	0.2889	9.3733	0.38268	0.0:0.2123:0.7877:0.0	.	13;60	F5H1S3;Q13585	.;MTR1L_HUMAN	Q	13;60	ENSP00000218316:R60Q	ENSP00000218316:R60Q	R	+	2	0	GPR50	150096030	1.000000	0.71417	0.994000	0.49952	0.131000	0.20780	3.236000	0.51336	0.877000	0.35895	-0.701000	0.03672	CGG		0.483	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		52	11	0	0	0	1	0	52	11				
CACNA1A	773	broad.mit.edu	37	19	13366064	13366064	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr19:13366064T>C	ENST00000360228.5	-	29	4599	c.4600A>G	c.(4600-4602)Att>Gtt	p.I1534V	CACNA1A_ENST00000573710.2_Missense_Mutation_p.I1535V|CACNA1A_ENST00000574822.1_5'Flank	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1535					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GCGAAATCAATGCAGGCCCTC	0.617																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(4600-4602)Att>Gtt		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						42.0	46.0	45.0					19																	13366064		2117	4215	6332	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13366064T>C	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4600A>G	19.37:g.13366064T>C	ENSP00000353362:p.Ile1534Val					CACNA1A_ENST00000573710.2_Missense_Mutation_p.I1535V	p.I1534V	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		29	4599	-			1535					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.4600A>G	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.587828	0.28268	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084;ENST00000445042	D	0.96300	-3.97	4.99	4.99	0.66335	.	0.181808	0.43919	D	0.000501	D	0.96892	0.8985	L	0.52011	1.625	0.58432	D	0.999998	P;P;D;P	0.59357	0.735;0.674;0.985;0.545	B;B;D;B	0.67548	0.232;0.409;0.952;0.232	D	0.96809	0.9595	10	0.48119	T	0.1	.	13.7495	0.62899	0.0:0.0:0.0:1.0	.	1535;1538;1534;1535	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	V	1534;1538;1535;1535;151	ENSP00000353362:I1534V	ENSP00000317661:I1535V	I	-	1	0	CACNA1A	13227064	1.000000	0.71417	1.000000	0.80357	0.330000	0.28571	7.931000	0.87625	1.890000	0.54733	0.524000	0.50904	ATT		0.617	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		10	13	0	0	0	1	0	10	13				
RPL32P3	132241	broad.mit.edu	37	3	129116000	129116000	+	RNA	SNP	A	A	G			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr3:129116000A>G	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						GGGAAGAAGTAGCCCCAGGTG	0.542																																						ENST00000514355.1																			0				lung(1)	1																																														0							g.chr3:129116000A>G	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116000A>G														0	412	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.542	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			5	131	0	0	0	1	0	5	131				
OR6V1	346517	broad.mit.edu	37	7	142750093	142750093	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr7:142750093T>C	ENST00000418316.1	+	1	677	c.656T>C	c.(655-657)aTa>aCa	p.I219T		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TATGGCTACATAGTGACCACT	0.547																																						ENST00000418316.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(655-657)aTa>aCa		olfactory receptor, family 6, subfamily V, member 1							145.0	150.0	148.0					7																	142750093		2043	4203	6246	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142750093T>C		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.656T>C	7.37:g.142750093T>C	ENSP00000396085:p.Ile219Thr						p.I219T	NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN			1	677	+	Melanoma(164;0.059)		219					A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.656T>C	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.401264	0.42613	.	.	ENSG00000225781	ENST00000418316	T	0.00402	7.56	4.6	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01730	0.0055	H	0.95780	3.72	0.20489	N	0.999896	D	0.89917	1.0	D	0.97110	1.0	T	0.26224	-1.0109	9	0.87932	D	0	.	8.3305	0.32184	0.0:0.0958:0.0:0.9042	.	219	Q8N148	OR6V1_HUMAN	T	219	ENSP00000396085:I219T	ENSP00000396085:I219T	I	+	2	0	OR6V1	142460215	0.569000	0.26643	0.533000	0.28001	0.573000	0.36030	1.506000	0.35747	0.790000	0.33803	0.533000	0.62120	ATA		0.547	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			4	169	0	0	0	1	0	4	169				
SNHG14	104472715	broad.mit.edu	37	15	25488801	25488801	+	RNA	SNP	G	G	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr15:25488801G>T	ENST00000453082.2	+	0	2332				SNORD115-41_ENST00000363608.1_RNA|SNORD115-39_ENST00000363694.1_RNA|SNORD115-40_ENST00000606510.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		GAAGAGAGGTGATGACTTAAA	0.522																																						ENST00000453082.2																			0																				441.0	447.0	445.0					15																	25488801		876	1989	2865			0							g.chr15:25488801G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25488801G>T						SNORD115-40_ENST00000606510.1_RNA		NR_003343.1						0	2332	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.522	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			7	468	1	0	0.00198382	1	0.00207829	7	468				
IRGQ	126298	broad.mit.edu	37	19	44096613	44096613	+	Silent	SNP	G	G	A			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr19:44096613G>A	ENST00000602269.1	-	2	1622	c.1437C>T	c.(1435-1437)gcC>gcT	p.A479A	IRGQ_ENST00000601520.1_Intron|IRGQ_ENST00000422989.1_Silent_p.A479A|L34079.2_ENST00000594374.1_Intron			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	479	Ala-rich.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TCCACGCCCCGGCTCGCAACG	0.736																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(1435-1437)gcC>gcT		immunity-related GTPase family, Q							4.0	6.0	5.0					19																	44096613		1758	3535	5293	SO:0001819	synonymous_variant	126298						protein binding	g.chr19:44096613G>A	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1437C>T	19.37:g.44096613G>A						IRGQ_ENST00000602269.1_Silent_p.A479A|IRGQ_ENST00000601520.1_Intron|L34079.2_ENST00000594374.1_Intron	p.A479A	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	1592	-		Prostate(69;0.0199)	479			Ala-rich.		B2RNP3	Silent	SNP	ENST00000602269.1	37	c.1437C>T	CCDS33040.1																																																																																				0.736	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		4	8	0	0	0	1	0	4	8				
GRM1	2911	broad.mit.edu	37	6	146755288	146755288	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr6:146755288C>T	ENST00000282753.1	+	8	3176	c.2941C>T	c.(2941-2943)Cgc>Tgc	p.R981C	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.R981C|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	981					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R981C(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GGTGCACAGGCGCGTGCCAAG	0.652																																						ENST00000361719.2																			1	Substitution - Missense(1)	p.R981C(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(2941-2943)Cgc>Tgc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						73.0	78.0	76.0					6																	146755288		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755288C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2941C>T	6.37:g.146755288C>T	ENSP00000282753:p.Arg981Cys					GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.R981C	p.R981C	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3411	+		Ovarian(120;0.0387)	981					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2941C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242326	0.79912	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.89123	-2.47;-2.47	5.1	5.1	0.69264	.	0.180842	0.49916	D	0.000133	T	0.80341	0.4605	N	0.24115	0.695	0.80722	D	1	D	0.63880	0.993	B	0.44315	0.446	D	0.83599	0.0127	10	0.52906	T	0.07	.	18.5007	0.90879	0.0:1.0:0.0:0.0	.	981	Q13255	GRM1_HUMAN	C	981	ENSP00000354896:R981C;ENSP00000282753:R981C	ENSP00000282753:R981C	R	+	1	0	GRM1	146796981	1.000000	0.71417	0.943000	0.38184	0.735000	0.41995	5.103000	0.64578	2.363000	0.80096	0.462000	0.41574	CGC		0.652	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		48	79	0	0	0	1	0	48	79				
MBTPS1	8720	broad.mit.edu	37	16	84124506	84124506	+	Silent	SNP	A	A	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr16:84124506A>T	ENST00000343411.3	-	8	1500	c.1005T>A	c.(1003-1005)gcT>gcA	p.A335A	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	335	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CATTGCCAATAGCAGAAACCA	0.373																																						ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1003-1005)gcT>gcA		membrane-bound transcription factor peptidase, site 1							126.0	118.0	120.0					16																	84124506		2200	4300	6500	SO:0001819	synonymous_variant	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84124506A>T	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1005T>A	16.37:g.84124506A>T						MBTPS1_ENST00000569770.1_5'UTR	p.A335A	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			8	1500	-			335			Serine protease.		A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	ENST00000343411.3	37	c.1005T>A	CCDS10941.1																																																																																				0.373	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		11	72	0	0	0	1	0	11	72				
RNF113A	7737	broad.mit.edu	37	X	119005303	119005303	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chrX:119005303C>T	ENST00000371442.2	-	1	488	c.274G>A	c.(274-276)Gag>Aag	p.E92K	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	92	Poly-Glu.						zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CTCTCGGGCTCATTTTCCTCT	0.547																																						ENST00000371442.2																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						c.(274-276)Gag>Aag		ring finger protein 113A							162.0	161.0	161.0					X																	119005303		2203	4300	6503	SO:0001583	missense	7737						nucleic acid binding|zinc ion binding	g.chrX:119005303C>T	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.274G>A	X.37:g.119005303C>T	ENSP00000360497:p.Glu92Lys						p.E92K	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN			1	488	-			92			Poly-Glu.		B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	c.274G>A	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	C	8.723	0.914831	0.17907	.	.	ENSG00000125352	ENST00000371442	T	0.31510	1.49	5.49	4.63	0.57726	.	0.582240	0.18241	N	0.147224	T	0.19167	0.0460	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.26985	-1.0087	10	0.12430	T	0.62	-33.4748	7.7603	0.28948	0.0:0.808:0.0:0.192	.	92	O15541	R113A_HUMAN	K	92	ENSP00000360497:E92K	ENSP00000360497:E92K	E	-	1	0	RNF113A	118889331	0.001000	0.12720	0.002000	0.10522	0.308000	0.27856	0.639000	0.24690	1.108000	0.41662	0.600000	0.82982	GAG		0.547	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978		116	26	0	0	0	1	0	116	26				
PHKB	5257	broad.mit.edu	37	16	47697603	47697603	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr16:47697603A>G	ENST00000323584.5	+	24	2318	c.2294A>G	c.(2293-2295)cAc>cGc	p.H765R	PHKB_ENST00000299167.8_Missense_Mutation_p.H765R|PHKB_ENST00000455779.1_Missense_Mutation_p.H758R|PHKB_ENST00000566044.1_Missense_Mutation_p.H758R	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	765					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTTTCTGATCACATTGAGAGA	0.328																																						ENST00000455779.1																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41						c.(2272-2274)cAc>cGc		phosphorylase kinase, beta							209.0	189.0	196.0					16																	47697603		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47697603A>G		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2294A>G	16.37:g.47697603A>G	ENSP00000313504:p.His765Arg					PHKB_ENST00000323584.5_Missense_Mutation_p.H765R|PHKB_ENST00000566044.1_Missense_Mutation_p.H758R|PHKB_ENST00000299167.8_Missense_Mutation_p.H765R	p.H758R			Q93100	KPBB_HUMAN			25	2458	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	765					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.2273A>G	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	A	9.351	1.065456	0.20067	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.88277	-2.36;-2.36	5.73	4.64	0.57946	Glycoside hydrolase 15-related (1);	0.486738	0.24368	N	0.039139	T	0.75729	0.3889	N	0.11927	0.2	0.32291	N	0.566315	B;B	0.12630	0.0;0.006	B;B	0.09377	0.004;0.002	T	0.69355	-0.5167	10	0.20046	T	0.44	-13.5461	7.0361	0.24995	0.7992:0.0:0.0699:0.1308	.	765;758	Q93100;Q93100-4	KPBB_HUMAN;.	R	758;758;765	ENSP00000414345:H758R;ENSP00000313504:H765R	ENSP00000299167:H758R	H	+	2	0	PHKB	46255104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.959000	0.56744	0.984000	0.38629	0.533000	0.62120	CAC		0.328	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			36	49	0	0	0	1	0	36	49				
UBQLN3	50613	broad.mit.edu	37	11	5529067	5529067	+	Missense_Mutation	SNP	A	A	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr11:5529067A>C	ENST00000311659.4	-	2	1869	c.1722T>G	c.(1720-1722)aaT>aaG	p.N574K	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_5'Flank|HBE1_ENST00000380237.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	574										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAGGTGGATTTGGGAGAG	0.522																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(1720-1722)aaT>aaG		ubiquilin 3							62.0	60.0	60.0					11																	5529067		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529067A>C	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1722T>G	11.37:g.5529067A>C	ENSP00000347997:p.Asn574Lys					HBG2_ENST00000380259.2_Intron	p.N574K	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1869	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	574					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.1722T>G	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.855669	0.00558	.	.	ENSG00000175520	ENST00000311659	T	0.37752	1.18	4.82	-2.93	0.05598	.	1.992470	0.02484	N	0.088811	T	0.31827	0.0809	L	0.43152	1.355	0.09310	N	1	B	0.19935	0.04	B	0.16722	0.016	T	0.28299	-1.0048	10	0.35671	T	0.21	3.1357	10.1045	0.42524	0.6232:0.0:0.3768:0.0	.	574	Q9H347	UBQL3_HUMAN	K	574	ENSP00000347997:N574K	ENSP00000347997:N574K	N	-	3	2	UBQLN3	5485643	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.360000	0.02600	-0.703000	0.05049	-0.242000	0.12053	AAT		0.522	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		22	26	0	0	0	1	0	22	26				
INPP5E	56623	broad.mit.edu	37	9	139329254	139329254	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr9:139329254G>A	ENST00000371712.3	-	2	1276	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C		NM_019892.4	NP_063945.2	Q10713	MPPA_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	0					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGAAGTAGCGGGCCAGCTCA	0.682																																						ENST00000371712.3																			0				NS(1)|endometrium(1)|lung(4)|skin(3)	9						c.(874-876)Cgc>Tgc		inositol polyphosphate-5-phosphatase, 72 kDa							27.0	25.0	26.0					9																	139329254		2195	4295	6490	SO:0001583	missense	56623					cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	g.chr9:139329254G>A	AF187891	CCDS7000.1	9q34.3	2011-02-11			ENSG00000148384	ENSG00000148384			21474	protein-coding gene	gene with protein product		613037	"""Joubert syndrome 1"""	JBTS1		10764818, 10577920, 19668216	Standard	NM_019892		Approved	PPI5PIV, CORS1	uc004cho.3	Q9NRR6	OTTHUMG00000020927	ENST00000371712.3:c.874C>T	9.37:g.139329254G>A	ENSP00000360777:p.Arg292Cys						p.R292C	NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)	2	1276	-		Myeloproliferative disorder(178;0.0511)	292					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371712.3	37	c.874C>T	CCDS7000.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934263	0.73442	.	.	ENSG00000148384	ENST00000371712	D	0.98012	-4.66	4.53	3.53	0.40419	.	0.129405	0.51477	D	0.000094	D	0.97867	0.9299	M	0.70275	2.135	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.59703	0.862;0.723	D	0.97659	1.0159	10	0.87932	D	0	-19.2862	11.6879	0.51497	0.0:0.0:0.5763:0.4237	.	292;292	Q9NRR6-2;Q9NRR6	.;INP5E_HUMAN	C	292	ENSP00000360777:R292C	ENSP00000360777:R292C	R	-	1	0	INPP5E	138449075	1.000000	0.71417	0.985000	0.45067	0.778000	0.44026	5.509000	0.67012	0.820000	0.34516	0.561000	0.74099	CGC		0.682	INPP5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055058.1	NM_019892		10	13	0	0	0	1	0	10	13				
ARFGEF1	10565	broad.mit.edu	37	8	68139818	68139818	+	Missense_Mutation	SNP	T	T	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr8:68139818T>C	ENST00000262215.3	-	26	3996	c.3607A>G	c.(3607-3609)Aat>Gat	p.N1203D	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.N657D|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.N41D	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1203					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACATCTTCATTAGGATTACAC	0.343																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3607-3609)Aat>Gat		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							66.0	65.0	65.0					8																	68139818		2203	4298	6501	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68139818T>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3607A>G	8.37:g.68139818T>C	ENSP00000262215:p.Asn1203Asp					ARFGEF1_ENST00000520381.1_Missense_Mutation_p.N657D|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.N41D	p.N1203D	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		26	3996	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1203					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3607A>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284675	0.59867	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230;ENST00000517631	T;T;T;T	0.64260	2.61;-0.09;-0.06;1.59	4.84	4.84	0.62591	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54983	0.1892	L	0.33710	1.025	0.58432	D	0.999999	B;B;B	0.29886	0.26;0.008;0.035	B;B;B	0.35114	0.196;0.027;0.027	T	0.56074	-0.8039	10	0.44086	T	0.13	.	14.4259	0.67215	0.0:0.0:0.0:1.0	.	1203;681;657	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	D	657;1203;41;52	ENSP00000428429:N657D;ENSP00000262215:N1203D;ENSP00000430891:N41D;ENSP00000429138:N52D	ENSP00000262215:N1203D	N	-	1	0	ARFGEF1	68302372	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.166000	0.64965	1.798000	0.52647	0.477000	0.44152	AAT		0.343	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		46	52	0	0	0	1	0	46	52				
FBXO24	26261	broad.mit.edu	37	7	100190516	100190516	+	Silent	SNP	T	T	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr7:100190516T>C	ENST00000241071.6	+	5	991	c.669T>C	c.(667-669)tgT>tgC	p.C223C	FBXO24_ENST00000468962.1_Silent_p.C211C|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.C261C|FBXO24_ENST00000465843.1_Silent_p.C209C|PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000360609.2_Silent_p.C209C	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	223					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCTGTGACTGTGTTGAGGTCT	0.557																																						ENST00000241071.6																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28						c.(667-669)tgT>tgC		F-box protein 24							96.0	81.0	86.0					7																	100190516		2203	4300	6503	SO:0001819	synonymous_variant	26261					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr7:100190516T>C	AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.669T>C	7.37:g.100190516T>C						PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.C261C|FBXO24_ENST00000468962.1_Silent_p.C211C|FBXO24_ENST00000360609.2_Silent_p.C209C|FBXO24_ENST00000465843.1_Silent_p.C209C|PCOLCE-AS1_ENST00000544873.1_RNA	p.C223C	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN			5	991	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		223					A4D2D4|B4DX91|B4DY42|Q9H0G1	Silent	SNP	ENST00000241071.6	37	c.669T>C	CCDS5698.1																																																																																				0.557	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356104.1			21	24	0	0	0	1	0	21	24				
BRIP1	83990	broad.mit.edu	37	17	59858254	59858254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr17:59858254G>A	ENST00000259008.2	-	12	2008	c.1741C>T	c.(1741-1743)Cga>Tga	p.R581*	BRIP1_ENST00000577598.1_Nonsense_Mutation_p.R581*|BRIP1_ENST00000583837.1_5'Flank	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	581					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GTTTTCTGTCGTGAACGTTTC	0.358			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(1741-1743)Cga>Tga	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							148.0	133.0	138.0					17																	59858254		2203	4300	6503	SO:0001587	stop_gained	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59858254G>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.1741C>T	17.37:g.59858254G>A	ENSP00000259008:p.Arg581*					BRIP1_ENST00000577598.1_Nonsense_Mutation_p.R581*	p.R581*	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			12	2008	-			581					Q3MJE2|Q8NCI5	Nonsense_Mutation	SNP	ENST00000259008.2	37	c.1741C>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	40	8.236381	0.98719	.	.	ENSG00000136492	ENST00000259008	.	.	.	5.25	1.64	0.23874	.	0.307233	0.25122	N	0.032975	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.3146	14.1973	0.65679	0.0:0.0:0.5503:0.4497	.	.	.	.	X	581	.	.	R	-	1	2	BRIP1	57213036	0.890000	0.30428	0.995000	0.50966	0.982000	0.71751	0.885000	0.28227	0.530000	0.28619	0.655000	0.94253	CGA		0.358	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		36	76	0	0	0	1	0	36	76				
MROH9	80133	broad.mit.edu	37	1	170965648	170965648	+	Splice_Site	SNP	G	G	C			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr1:170965648G>C	ENST00000367758.3	+	14	1437	c.1338G>C	c.(1336-1338)ttG>ttC	p.L446F	MROH9_ENST00000367759.4_Splice_Site_p.L446F	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	446																	GGGGCTTTAGGTATGCCCAGG	0.423																																						ENST00000367759.4																			0											c.e14-1		maestro heat-like repeat family member 9							127.0	120.0	122.0					1																	170965648		1882	4109	5991	SO:0001630	splice_region_variant	80133							g.chr1:170965648G>C	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1338-1G>C	1.37:g.170965648G>C						MROH9_ENST00000367758.3_Splice_Site_p.L446_splice	p.L446_splice	NM_001163629.1	NP_001157101.1					14	1492	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Splice_Site	SNP	ENST00000367758.3	37	c.1337_splice	CCDS41436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.187|7.187	0.590664|0.590664	0.13812|0.13812	.|.	.|.	ENSG00000117501|ENSG00000117501	ENST00000367759;ENST00000367758|ENST00000426136	T;T|.	0.66815|.	-0.23;2.26|.	5.65|5.65	-1.12|-1.12	0.09808|0.09808	.|.	1.178000|.	0.06176|.	N|.	0.678518|.	T|T	0.31071|0.31071	0.0785|0.0785	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	B;B|.	0.17667|.	0.012;0.023|.	B;B|.	0.16722|.	0.007;0.016|.	T|T	0.16571|0.16571	-1.0398|-1.0398	9|5	.|.	.|.	.|.	.|.	10.1778|10.1778	0.42948|0.42948	0.295:0.2299:0.4751:0.0|0.295:0.2299:0.4751:0.0	.|.	446;446|.	F5GWX6;Q5TGP6|.	.;CA129_HUMAN|.	F|L	446|53	ENSP00000356733:L446F;ENSP00000356732:L446F|.	.|.	L|V	+|+	3|1	2|0	C1orf129|C1orf129	169232272|169232272	0.851000|0.851000	0.29673|0.29673	0.099000|0.099000	0.21106|0.21106	0.006000|0.006000	0.05464|0.05464	-0.415000|-0.415000	0.07106|0.07106	-0.575000|-0.575000	0.05982|0.05982	-1.708000|-1.708000	0.00717|0.00717	TTG|GTA		0.423	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063	Missense_Mutation	4	122	0	0	0	1	0	4	122				
ANKIB1	54467	broad.mit.edu	37	7	92027931	92027931	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr7:92027931A>G	ENST00000265742.3	+	20	3314	c.2938A>G	c.(2938-2940)Atg>Gtg	p.M980V		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	980							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTTCATGACATGAACCCTCA	0.483																																						ENST00000265742.3																			0				cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41						c.(2938-2940)Atg>Gtg		ankyrin repeat and IBR domain containing 1							118.0	115.0	116.0					7																	92027931		2009	4182	6191	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92027931A>G	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2938A>G	7.37:g.92027931A>G	ENSP00000265742:p.Met980Val						p.M980V	NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	3314	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		980					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2938A>G	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.518654	0.44763	.	.	ENSG00000001629	ENST00000265742	T	0.10192	2.9	5.35	4.19	0.49359	.	0.076761	0.85682	N	0.000000	T	0.09335	0.0230	L	0.29908	0.895	0.47659	D	0.999489	B;B	0.22480	0.049;0.07	B;B	0.20184	0.028;0.014	T	0.09314	-1.0680	10	0.87932	D	0	.	11.3585	0.49630	0.9292:0.0:0.0708:0.0	.	332;980	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	V	980	ENSP00000265742:M980V	ENSP00000265742:M980V	M	+	1	0	ANKIB1	91865867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.749000	0.68704	1.151000	0.42436	0.533000	0.62120	ATG		0.483	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			31	47	0	0	0	1	0	31	47				
STK19	8859	broad.mit.edu	37	6	31939828	31939828	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr6:31939828G>A	ENST00000375333.2	+	1	108	c.55G>A	c.(55-57)Gca>Aca	p.A19T	DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375331.2_Missense_Mutation_p.A19T|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375349.3_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	19					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						ACAGTGGCGGGCAAACCCCTC	0.637																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)Gca>Aca		serine/threonine kinase 19							73.0	82.0	79.0					6																	31939828		2203	4300	6503	SO:0001583	missense	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939828G>A	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55G>A	6.37:g.31939828G>A	ENSP00000364482:p.Ala19Thr					DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Missense_Mutation_p.A19T	p.A19T	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	221	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	c.55G>A	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338993	0.41398	.	.	ENSG00000204344	ENST00000460018;ENST00000375331;ENST00000375333	T;T;T	0.54479	0.57;1.58;1.57	3.8	1.98	0.26296	.	.	.	.	.	T	0.15262	0.0368	N	0.14661	0.345	0.09310	N	1	B;B;B	0.20261	0.043;0.01;0.006	B;B;B	0.22152	0.038;0.007;0.003	T	0.25710	-1.0124	9	0.87932	D	0	1.5007	5.6433	0.17577	0.1123:0.2164:0.6713:0.0	.	19;19;19	B4E0M4;P49842-2;P49842	.;.;STK19_HUMAN	T	19	ENSP00000418350:A19T;ENSP00000364480:A19T;ENSP00000364482:A19T	ENSP00000364480:A19T	A	+	1	0	STK19	32047807	0.000000	0.05858	0.003000	0.11579	0.021000	0.10359	-0.130000	0.10498	0.546000	0.28920	0.561000	0.74099	GCA		0.637	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			4	80	0	0	0	1	0	4	80				
ATM	472	broad.mit.edu	37	11	108200991	108200991	+	Missense_Mutation	SNP	G	G	C	rs587781361		TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr11:108200991G>C	ENST00000452508.2	+	51	7547	c.7358G>C	c.(7357-7359)cGt>cCt	p.R2453P	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.R2453P			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2453	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.R2453P(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTAGCCCTGCGTGCACTGAAA	0.378			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		1	Substitution - Missense(1)	p.R2453P(1)	lung(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(7357-7359)cGt>cCt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							118.0	121.0	120.0					11																	108200991		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108200991G>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7358G>C	11.37:g.108200991G>C	ENSP00000388058:p.Arg2453Pro	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.R2453P|C11orf65_ENST00000525729.1_Intron	p.R2453P	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	50	7743	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2453			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.7358G>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	7.830	0.719598	0.15372	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83419	-1.72;-1.72	4.7	1.72	0.24424	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.453077	0.27836	N	0.017658	T	0.79851	0.4517	L	0.50333	1.59	0.80722	D	1	P	0.41524	0.753	P	0.48952	0.596	T	0.72776	-0.4191	10	0.42905	T	0.14	.	3.8417	0.08917	0.3933:0.0:0.4456:0.1611	.	2453	Q13315	ATM_HUMAN	P	2453	ENSP00000278616:R2453P;ENSP00000388058:R2453P	ENSP00000278616:R2453P	R	+	2	0	ATM	107706201	0.000000	0.05858	0.996000	0.52242	0.028000	0.11728	-0.177000	0.09796	0.135000	0.18707	-0.993000	0.02533	CGT		0.378	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		32	10	0	0	0	1	0	32	10				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		4	71	0	0	0	1	0	4	71				
SLC25A12	8604	broad.mit.edu	37	2	172669948	172669948	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr2:172669948G>A	ENST00000422440.2	-	11	1109	c.1072C>T	c.(1072-1074)Cgt>Tgt	p.R358C	SLC25A12_ENST00000392592.4_Missense_Mutation_p.R251C	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	358					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CCAGAGCCACGCTGGTTTTGC	0.438																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(1072-1074)Cgt>Tgt		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						121.0	115.0	117.0					2																	172669948		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172669948G>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1072C>T	2.37:g.172669948G>A	ENSP00000388658:p.Arg358Cys					SLC25A12_ENST00000392592.4_Missense_Mutation_p.R251C	p.R358C	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		11	1109	-			358					B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.1072C>T	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	g	23.8	4.455957	0.84209	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79033	-1.23;-1.23	4.96	4.96	0.65561	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.85592	0.5732	M	0.62209	1.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.86946	0.2082	10	0.87932	D	0	-8.6656	13.2041	0.59785	0.0:0.0:0.8406:0.1594	.	251;358	B3KR64;O75746	.;CMC1_HUMAN	C	358;251	ENSP00000388658:R358C;ENSP00000376371:R251C	ENSP00000376371:R251C	R	-	1	0	SLC25A12	172378194	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.573000	0.60893	2.293000	0.77203	0.484000	0.47621	CGT		0.438	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		60	89	0	0	0	1	0	60	89				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	100	0	0	0	1	0	4	100				
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-	rs147596634		TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr1:181680102_181680103delAG	ENST00000367573.2	+	8	1068_1069	c.1068_1069delAG	c.(1066-1071)aaagagfs	p.E357fs	CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000526775.1_Frame_Shift_Del_p.E357fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.E308fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.E308fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	357					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.51																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(1066-1071)aaagfs		calcium channel, voltage-dependent, R type, alpha 1E subunit			,,	161,3503		41,79,1712					,,	5.3	1.0		dbSNP_134	61	297,7585		52,193,3696	yes	frameshift,frameshift,frameshift	CACNA1E	NM_001205294.1,NM_001205293.1,NM_000721.3	,,	93,272,5408	A1A1,A1R,RR		3.7681,4.3941,3.9667	,,	,,		458,11088				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181680102_181680103delAG	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1068_1069delAG	1.37:g.181680112_181680113delAG	ENSP00000356545:p.Glu357fs					CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs	p.KE356fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			8	1233_1234	+			356					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Del	DEL	ENST00000367573.2	37	c.1068_1069delAG	CCDS55664.1																																																																																				0.510	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		7	73						7	73	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240370927	240370927	+	Missense_Mutation	SNP	G	G	A	rs71170718|rs562038978		TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr1:240370927G>A	ENST00000319653.9	+	5	3045	c.2815G>A	c.(2815-2817)Gga>Aga	p.G939R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	939	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1082R(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTACCCGGAGCGGGAAT	0.697																																						ENST00000319653.9																			1	Substitution - Missense(1)	p.G1082R(1)	lung(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(2815-2817)Gga>Aga		formin 2							27.0	33.0	31.0					1																	240370927		2202	4297	6499	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370927G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2815G>A	1.37:g.240370927G>A	ENSP00000318884:p.Gly939Arg						p.G939R	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3045	+	Ovarian(103;0.127)	all_cancers(173;0.013)	939			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2815G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010235	0.19277	.	.	ENSG00000155816	ENST00000319653	T	0.67865	-0.29	3.56	-0.609	0.11608	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	11.583100	0.03641	U	0.239455	T	0.76737	0.4029	M	0.88377	2.95	0.09310	N	1	D	0.61080	0.989	P	0.51453	0.67	T	0.60094	-0.7330	9	.	.	.	.	4.5862	0.12284	0.3219:0.0:0.5353:0.1428	.	939	Q9NZ56	FMN2_HUMAN	R	939	ENSP00000318884:G939R	.	G	+	1	0	FMN2	238437550	0.021000	0.18746	0.000000	0.03702	0.014000	0.08584	1.097000	0.30988	-0.088000	0.12506	0.479000	0.44913	GGA		0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		4	57	0	0	0	1	0	4	57				
CTC-436K13.1	0	broad.mit.edu	37	5	157616635	157616635	+	lincRNA	DEL	A	A	-			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr5:157616635delA	ENST00000522975.1	+	0	141																											TGCTTCTTCCAAATCTCACCA	0.453																																						ENST00000522975.1																			0																																																			0							g.chr5:157616635delA																													5.37:g.157616635delA														0	141	+									RNA	DEL	ENST00000522975.1	37																																																																																						0.453	CTC-436K13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000373930.1			2	4						2	4	---	---	---	---
CCT6P1	643253	broad.mit.edu	37	7	65226569	65226569	+	RNA	DEL	T	T	-			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr7:65226569delT	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		gcccggccCCttttttttttt	0.413																																						ENST00000442266.1																			0																																																			0							g.chr7:65226569delT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226569delT														0	1167	+									RNA	DEL	ENST00000442266.1	37																																																																																						0.413	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		2	4						2	4	---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						ENST00000448048.2																			1	Deletion - In frame(1)	p.G37_A43delGDRMAGA(1)	central_nervous_system(1)	central_nervous_system(1)|lung(1)|ovary(1)	3						c.(106-129)gcg>gc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_ENST00000430779.2_5'UTR	p.AGDRMAGA36del	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			1	233_253	-			36						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																				0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		3	6						3	6	---	---	---	---
RP11-360K13.1	0	broad.mit.edu	37	11	96514999	96514999	+	lincRNA	DEL	A	A	-	rs67317023|rs149392521		TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr11:96514999delA	ENST00000527528.1	+	0	158																											CTTAGTTATTaaaaaaaaaaa	0.368																																						ENST00000527528.1																			0																																																			0							g.chr11:96514999delA																													11.37:g.96514999delA														0	158	+									RNA	DEL	ENST00000527528.1	37																																																																																						0.368	RP11-360K13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000395474.1			2	4						2	4	---	---	---	---
MRPS31P5	100887750	broad.mit.edu	37	13	52741956	52741957	+	RNA	DEL	CA	CA	-			TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr13:52741956_52741957delCA	ENST00000451298.1	-	0	3682_3683				MRPS31P5_ENST00000416599.1_RNA																							CAAACACATGCACACACACACA	0.347																																						ENST00000451298.1																			0																																																			0							g.chr13:52741956_52741957delCA																													13.37:g.52741966_52741967delCA						RP11-64P12.8_ENST00000606031.1_RNA								0	3682_3683	-									RNA	DEL	ENST00000451298.1	37																																																																																						0.347	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			2	4						2	4	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684390	26684391	+	5'Flank	INS	-	-	C	rs11448856|rs67934205		TCGA-VN-A88K-01A-11D-A34U-08	TCGA-VN-A88K-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89d2e3cb-1a54-4f5b-93e9-e2ce8cb8074c	6b34e884-089c-4069-97e8-1cf89b756557	g.chr17:26684390_26684391insC	ENST00000292114.3	+	0	0				CTB-96E2.3_ENST00000591482.1_RNA|POLDIP2_ENST00000540200.1_Frame_Shift_Ins_p.P28fs|POLDIP2_ENST00000003607.4_5'UTR|TMEM199_ENST00000395404.3_5'Flank|TMEM199_ENST00000509083.1_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCACAGAGCGGCTTTGCCACCG	0.762													?|C|CC|unsure	5008	1.0	1.0	1.0	5008	,	,		11683	1.0		1.0	False		,,,				2504	1.0					ENST00000540200.1																			0											c.(79-84)aacgctfs		polymerase (DNA-directed), delta interacting protein 2				2752,40		1369,14,13						3.8	0.1		dbSNP_130	4	6434,100		3190,54,23	no	frameshift	POLDIP2	NM_015584.3		4559,68,36	A1A1,A1R,RR		1.5305,1.4327,1.5012				9186,140				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684390_26684391insC	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684391_26684391dupC	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR	p.NA27fs	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	2	80_81	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)		28						Frame_Shift_Ins	INS	ENST00000292114.3	37	c.81_82insG	CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		10	4						10	4	---	---	---	---
