#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_Description	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
TRAM1	23471	broad.mit.edu	37	8	71520412	71520412	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr8:71520412G>C	ENST00000262213.2	-	1	192	c.23C>G	c.(22-24)aCc>aGc	p.T8S	TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000521425.1_5'Flank|TRAM1_ENST00000536748.1_Intron|RP11-382J12.1_ENST00000499227.2_5'Flank	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	8					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GGGGCTCTTGGTGCTTTTCTT	0.652																																					Ovarian(85;984 1334 5116 12432 40638)	ENST00000262213.2											0			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17						c.(22-24)aCc>aGc	translocation associated membrane protein 1						70.0	73.0	72.0					8																	71520412		2203	4300	6503	SO:0001583	missense	23471			cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71520412G>C	X63679	X63679	CCDS6207.1	CCDS6207.1	8q13.1	2004-01-22			2004-01-22			ENSG00000067167	ENSG00000067167	ENSG00000067167	ENSG00000067167				20568	20568	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605190	605190						1315422	1315422	Standard	Standard	NM_014294	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	uc003xyo.2	Q15629	Q15629	OTTHUMG00000164428	OTTHUMG00000164428	ENST00000262213.2:c.23C>G	8.37:g.71520412G>C	ENSP00000262213:p.Thr8Ser		TRAM1_ENST00000536748.1_Intron|TRAM1_ENST00000521049.1_5'UTR	p.T8S	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		1	192	-			8		B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	c.23C>G	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310373	0.23821	.	.	ENSG00000067167	ENST00000262213	T	0.29655	1.56	4.87	0.717	0.18196	4.87	0.717	0.18196	.	0.522337	0.20988	N	0.082088	T	0.12646	0.0307	N	0.05306	-0.075	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18209	-1.0344	10	0.16420	T	0.52	-0.1219	9.461	0.38785	0.0:0.4389:0.2492:0.3119	.	8	Q15629	TRAM1_HUMAN	S	8	ENSP00000262213:T8S	ENSP00000262213:T8S	T	-	2	0	0	TRAM1	71682966	71682966	0.973000	0.33851	0.995000	0.50966	0.983000	0.72400	0.001000	0.13038	-0.176000	0.10707	0.563000	0.77884	ACC		0.652	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1		122.381440	-35	-35	71	71	NM_014294		37	122.496738	122.496738	31	0.544118	0	0	0	1	0	37	31	0.544118
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cTa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		113.790378	-5	-5	107	107	NM_002072		36	114.008097	114.008097	45	0.444444	0	0	0	1	0	36	45	0.444444
ACTB	60	broad.mit.edu	37	7	5568323	5568323	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr7:5568323C>T	ENST00000331789.5	-	4	582	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	131					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		ACGTACATGGCTGGGGTGTTG	0.587																																						ENST00000331789.5											0			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(391-393)Gcc>Acc	actin, beta						102.0	104.0	103.0					7																	5568323		2203	4300	6503	SO:0001583	missense	60			'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568323C>T	M28424	M28424	CCDS5341.1	CCDS5341.1	7p22	2014-09-17			2014-09-17			ENSG00000075624	ENSG00000075624	ENSG00000075624	ENSG00000075624				132	132	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			102630	102630						1505215	1505215	Standard	Standard	NM_001101	NM_001101		Approved		uc003sot.4	uc003sot.4	P60709	P60709	OTTHUMG00000023268	OTTHUMG00000023268	ENST00000331789.5:c.391G>A	7.37:g.5568323C>T	ENSP00000349960:p.Ala131Thr			p.A131T	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	4	582	-		Ovarian(82;0.0606)	131		A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.391G>A	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290822	0.59976	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713;ENST00000432588	D;D	0.96168	-3.93;-3.93	5.11	4.23	0.50019	5.11	4.23	0.50019	.	0.000000	0.64402	D	0.000011	D	0.98670	0.9554	H	0.99325	4.515	0.47949	D	0.999557	D	0.89917	1.0	D	0.97110	1.0	D	0.98559	1.0640	10	0.87932	D	0	.	11.9419	0.52905	0.0:0.914:0.0:0.086	.	131	P60709	ACTB_HUMAN	T	131;131;103;50;131	ENSP00000349960:A131T;ENSP00000407473:A131T	ENSP00000440549:A50T	A	-	1	0	0	ACTB	5534849	5534849	1.000000	0.71417	0.981000	0.43875	0.996000	0.88848	7.622000	0.83099	1.298000	0.44778	0.650000	0.86243	GCC		0.587	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4		116.700093	-30	-30	102	102	NM_001101		38	116.700093	116.700093	38	0.500000	0	0	0	1	0	38	38	0.5
OLFM1	10439	ucsc.edu	37	9	138011665	138011665	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr9:138011665G>A	ENST00000371793.3	+	6	1350	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	OLFM1_ENST00000252854.4_Missense_Mutation_p.V349M|OLFM1_ENST00000371796.3_Missense_Mutation_p.V340M	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	367	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GCTGTGGGCCGTGTACGCCAC	0.627																																																	0																	77.0	60.0	66.0					9																	138011665		2203	4300	6503	SO:0001583	missense	10439							AF035301	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			2014-01-20			ENSG00000130558	ENSG00000130558	ENSG00000130558	ENSG00000130558				17187	17187	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""pancortin"""	"""pancortin"""	605366	605366						9039501	9039501	Standard	Standard	NM_006334	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	uc004cfl.4	Q99784	Q99784	OTTHUMG00000020897	OTTHUMG00000020897	ENST00000371793.3:c.1099G>A	9.37:g.138011665G>A	ENSP00000360858:p.Val367Met																	Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37			.	.	.	.	.	.	.	.	.	.	G	21.7	4.190584	0.78789	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.90676	-2.71;-2.71;-2.71	5.07	5.07	0.68467	5.07	5.07	0.68467	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.061993	0.64402	D	0.000004	D	0.95089	0.8409	M	0.75447	2.3	0.58432	D	0.999999	D;D	0.89917	0.989;1.0	P;D	0.74348	0.874;0.983	D	0.95612	0.8673	10	0.87932	D	0	.	18.4324	0.90630	0.0:0.0:1.0:0.0	.	367;349	Q99784;Q6IMJ8	NOE1_HUMAN;.	M	349;340;367	ENSP00000252854:V349M;ENSP00000360861:V340M;ENSP00000360858:V367M	ENSP00000252854:V349M	V	+	1	0	0	OLFM1	137151486	137151486	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.571000	0.98176	2.357000	0.79964	0.561000	0.74099	GTG		0.627	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1			-2	-2	33	33	NM_014279		4			31							4	31	
MYBPC3	4607	broad.mit.edu	37	11	47358992	47358992	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr11:47358992G>T	ENST00000545968.1	-	25	2606	c.2552C>A	c.(2551-2553)gCc>gAc	p.A851D	MYBPC3_ENST00000399249.2_Missense_Mutation_p.A851D|MYBPC3_ENST00000256993.4_Missense_Mutation_p.A850D	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	851	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CATGCCGATGGCGTTGACCGC	0.637																																						ENST00000399249.2											0			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42	GRCh37	CM054003	MYBPC3	M		c.(2551-2553)gCc>gAc	myosin binding protein C, cardiac						59.0	62.0	61.0					11																	47358992		2143	4234	6377	SO:0001583	missense	4607			cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47358992G>T	X84075	X84075	CCDS53621.1	CCDS53621.1	11p11.2	2014-09-17	2001-11-28		2014-09-17	2001-11-28			ENSG00000134571		ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	7551	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600958	600958	"""myosin-binding protein C, cardiac"""	CMH4	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	7744002, 8358441	Standard	Standard	NM_000256	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	uc021qis.1	Q14896	Q14896			ENST00000545968.1:c.2552C>A	11.37:g.47358992G>T	ENSP00000442795:p.Ala851Asp		MYBPC3_ENST00000256993.4_Missense_Mutation_p.A850D|MYBPC3_ENST00000545968.1_Missense_Mutation_p.A851D	p.A851D			Q14896	MYPC3_HUMAN		Lung(87;0.176)	24	2606	-			850	Fibronectin type-III 1.	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.2552C>A	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671560	0.88348	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.57436	0.4;0.4;0.4	4.6	4.6	0.57074	4.6	4.6	0.57074	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67942	0.2947	L	0.54908	1.71	0.44092	D	0.996853	D	0.59357	0.985	D	0.68621	0.959	T	0.69942	-0.5008	9	0.54805	T	0.06	.	17.6256	0.88093	0.0:0.0:1.0:0.0	.	850	Q14896	MYPC3_HUMAN	D	851;851;850	ENSP00000442795:A851D;ENSP00000382193:A851D;ENSP00000256993:A850D	ENSP00000256993:A850D	A	-	2	0	0	MYBPC3	47315568	47315568	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	7.057000	0.76669	2.395000	0.81488	0.561000	0.74099	GCC		0.637	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3		38.033255	-1	-1	53	53			14	39.463248	39.463248	31	0.311111	1	0	7.05477e-17	1	7.72665e-17	14	31	0.311111
CANT1	124583	broad.mit.edu	37	17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate																																	ENST00000302345.2		Dom	yes		17	17q25	124583	calcium activated nucleotidase 1		E	0			cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(391-393)aAg>aGg	calcium activated nucleotidase 1						184.0	181.0	182.0					17																	76993313		2203	4300	6503	SO:0001583	missense	124583			positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993313T>C	AJ312208	AJ312208	CCDS11760.1	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302		ENSG00000171302				19721	19721	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165	613165						12167635	12167635	Standard	Standard	NM_138793	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	uc002jwk.3	Q8WVQ1	Q8WVQ1			ENST00000302345.2:c.392A>G	17.37:g.76993313T>C	ENSP00000307674:p.Lys131Arg		CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	886	-			131		B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.392A>G	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.501139	0.26861	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.85773	-2.03;-2.03	5.27	4.19	0.49359	5.27	4.19	0.49359	.	0.099573	0.64402	D	0.000002	T	0.71065	0.3296	N	0.20357	0.565	0.50632	D	0.999887	B	0.06786	0.001	B	0.10450	0.005	T	0.59440	-0.7454	10	0.13108	T	0.6	-30.8089	8.2417	0.31665	0.0:0.1541:0.0:0.8459	.	131	Q8WVQ1	CANT1_HUMAN	R	131;131;131;80	ENSP00000307674:K131R;ENSP00000376241:K131R	ENSP00000307674:K131R	K	-	2	0	0	CANT1	74504908	74504908	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.832000	0.39151	0.845000	0.35118	0.459000	0.35465	AAG		0.577	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2		-63.718880	-33	-33	317	317	NM_138793		4	7.012107	7.012107	261	0.015094	0	0	0	1	0	4	261	0.015094
FBLN2	2199	broad.mit.edu	37	3	13672941	13672941	+	Silent	SNP	C	C	T			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr3:13672941C>T	ENST00000295760.7	+	15	3126	c.3057C>T	c.(3055-3057)aaC>aaT	p.N1019N	FBLN2_ENST00000404922.3_Silent_p.N1066N|FBLN2_ENST00000492059.1_Silent_p.N1066N|FBLN2_ENST00000535798.1_Silent_p.N1045N	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1019	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TGACGGCCAACGGGAGGTCCT	0.642																																						ENST00000404922.3											0			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3196-3198)aaC>aaT	fibulin 2						28.0	30.0	29.0					3																	13672941		2136	4215	6351	SO:0001819	synonymous_variant	2199				proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13672941C>T	X82494	X82494	CCDS46761.1, CCDS46762.1	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			2010-06-15			ENSG00000163520	ENSG00000163520	ENSG00000163520	ENSG00000163520		"""Fibulins"""	"""Fibulins"""	3601	3601	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			135821	135821						7806230	7806230	Standard	Standard	NM_001165035	NM_001165035		Approved		uc011ava.2	uc011ava.2	P98095	P98095	OTTHUMG00000155437	OTTHUMG00000155437	ENST00000295760.7:c.3057C>T	3.37:g.13672941C>T			FBLN2_ENST00000492059.1_Silent_p.N1066N|FBLN2_ENST00000295760.7_Silent_p.N1019N|FBLN2_ENST00000535798.1_Silent_p.N1045N	p.N1066N	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		16	3317	+			1033	EGF-like 10; calcium-binding.	B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	c.3198C>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	C	9.957	1.221680	0.22457	.	.	ENSG00000163520	ENST00000295761	.	.	.	5.39	-0.778	0.10977	5.39	-0.778	0.10977	.	.	.	.	.	T	0.57533	0.2060	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53718	-0.8399	4	.	.	.	.	10.7163	0.46015	0.0:0.3131:0.0:0.6869	.	.	.	.	M	38	.	.	T	+	2	0	0	FBLN2	13647942	13647942	0.805000	0.28982	0.992000	0.48379	0.975000	0.68041	-0.086000	0.11233	-0.049000	0.13379	0.655000	0.94253	ACG		0.642	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3		8.923121	-5	-5	8	8	NM_001004019		3	9.032827	9.032827	5	0.375000	0	0	0	1	0	3	5	0.375
ARAP1	116985	broad.mit.edu	37	11	72408531	72408531	+	Splice_Site	SNP	C	C	T			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr11:72408531C>T	ENST00000393609.3	-	21	2992	c.2790G>A	c.(2788-2790)agG>agA	p.R930R	ARAP1_ENST00000429686.1_Splice_Site_p.R624R|ARAP1_ENST00000359373.5_Splice_Site_p.R930R|ARAP1_ENST00000334211.8_Splice_Site_p.R685R|ARAP1-AS2_ENST00000500163.2_RNA|ARAP1_ENST00000455638.2_Splice_Site_p.R930R|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000426523.1_Splice_Site_p.R685R|ARAP1_ENST00000393605.3_Splice_Site_p.R690R	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	930					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGTACAGTGTCCTGGGCCAGG	0.652																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5											0			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(2788-2790)agG>agA	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1						32.0	35.0	34.0					11																	72408531		2200	4292	6492	SO:0001630	splice_region_variant	116985			actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72408531C>T	AF411983	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	16925	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606646	606646	"""centaurin, delta 2"""	CENTD2	"""centaurin, delta 2"""	CENTD2				Standard	Standard	NM_001040118	NM_001040118		Approved		uc001osu.3	uc001osu.3	Q96P48	Q96P48	OTTHUMG00000157102	OTTHUMG00000157102	ENST00000393609.3:c.2790-1G>A	11.37:g.72408531C>T			ARAP1_ENST00000426523.1_Splice_Site_p.R685R|ARAP1_ENST00000334211.8_Splice_Site_p.R685R|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Splice_Site_p.R930R|ARAP1_ENST00000393609.3_Splice_Site_p.R930R|ARAP1_ENST00000429686.1_Splice_Site_p.R624R|ARAP1_ENST00000393605.3_Splice_Site_p.R690R	p.R930R			Q96P48	ARAP1_HUMAN			21	3641	-			930		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Splice_Site	SNP	ENST00000393609.3	37	c.2790G>A	CCDS41687.1																																																																																									0.652	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1		51.466317	-14	-14	30	30	NM_001040118	Silent	17	51.799488	51.799488	25	0.404762	0	0	0	1	0	17	25	0.404762
XIST	7503	broad.mit.edu	37	X	73062599	73062599	+	lincRNA	SNP	G	G	A			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chrX:73062599G>A	ENST00000429829.1	-	0	9989					NR_001564.2				X inactive specific transcript (non-protein coding)																		AAGAGAAAGGGCCTTGTCTGG	0.473																																						ENST00000429829.1											0																	53.0	51.0	51.0					X																	73062599		876	1991	2867			0						g.chrX:73062599G>A	M97168	M97168			Xq13.2	2013-12-18	2013-02-07		2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807	ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	"""Long non-coding RNAs"", ""-"""	12810	12810	non-coding RNA	RNA, long non-coding	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	"""long intergenic non-protein coding RNA 1"""	314670	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	1985261, 2034279	Standard	Standard	NR_001564	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2	uc004ebm.2			OTTHUMG00000021839	OTTHUMG00000021839		X.37:g.73062599G>A					NR_001564.2						0	9989	-						RNA	SNP	ENST00000429829.1	37																																																																																											0.473	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1		60.802335	-28	-28	16	16	NR_001564		17	60.802328	60.802328	0	1.000000	0	0	0	1	0	17	0	1.0
C15orf54	400360	broad.mit.edu	37	15	39544396	39544396	+	Silent	SNP	G	G	A			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr15:39544396G>A	ENST00000318578.3	+	2	428	c.60G>A	c.(58-60)ccG>ccA	p.P20P	C15orf54_ENST00000561223.1_Silent_p.P20P|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	20								p.P20P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GGGCTGAGCCGCAAAGAATTT	0.468																																						ENST00000318578.3											1	Substitution - coding silent(1)	lung(1)	NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5						c.(58-60)ccG>ccA	chromosome 15 open reading frame 54						200.0	201.0	200.0					15																	39544396		2200	4297	6497	SO:0001819	synonymous_variant	400360						g.chr15:39544396G>A			CCDS10049.1	CCDS10049.1	15q14	2014-09-10			2014-09-10			ENSG00000175746	ENSG00000175746	ENSG00000175746	ENSG00000175746				33797	33797	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product												Standard	Standard	NM_207445	NM_207445		Approved	FLJ39531	uc001zkg.2	uc001zkg.2	Q8N8G6	Q8N8G6	OTTHUMG00000129843	OTTHUMG00000129843	ENST00000318578.3:c.60G>A	15.37:g.39544396G>A			RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P	p.P20P	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	428	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	20		B7ZVZ9	Silent	SNP	ENST00000318578.3	37	c.60G>A	CCDS10049.1																																																																																									0.468	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1		-51.958635	-12	-12	224	224	NM_207445		4	6.99861	6.998610	221	0.017778	0	0	0	1	0	4	221	0.017778
RAI1	10743	broad.mit.edu	37	17	17697038	17697038	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr17:17697038C>A	ENST00000353383.1	+	3	1245	c.776C>A	c.(775-777)cCg>cAg	p.P259Q	RAI1_ENST00000261641.6_Missense_Mutation_p.P259Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	259	Gln-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGCCTGGCCCCGGGGCAGCGG	0.667																																						ENST00000353383.1											0			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(775-777)cCg>cAg	retinoic acid induced 1						24.0	31.0	29.0					17																	17697038		2155	4218	6373	SO:0001583	missense	10743				cytoplasm|nucleus	zinc ion binding	g.chr17:17697038C>A	AJ230819	AJ230819	CCDS11188.1	CCDS11188.1	17p11.2	2011-02-08			2011-02-08			ENSG00000108557	ENSG00000108557	ENSG00000108557	ENSG00000108557				9834	9834	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607642	607642	"""Smith-Magenis syndrome chromosome region"""	SMCR	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	10036180	Standard	Standard	NM_030665	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	uc002grm.3	Q7Z5J4	Q7Z5J4	OTTHUMG00000059314	OTTHUMG00000059314	ENST00000353383.1:c.776C>A	17.37:g.17697038C>A	ENSP00000323074:p.Pro259Gln		RAI1_ENST00000261641.6_Missense_Mutation_p.P259Q	p.P259Q	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	1245	+			259	Gln-rich.	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	c.776C>A	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	C	10.97	1.502878	0.26949	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.64991	-0.13;2.59;0.48	4.77	4.77	0.60923	4.77	4.77	0.60923	.	0.092628	0.46758	D	0.000265	T	0.73202	0.3557	L	0.45581	1.43	0.33911	D	0.639696	D	0.89917	1.0	D	0.70227	0.968	T	0.78986	-0.1987	10	0.39692	T	0.17	.	17.7786	0.88517	0.0:1.0:0.0:0.0	.	259	Q7Z5J4	RAI1_HUMAN	Q	259;259;259;259;259;236	ENSP00000323074:P259Q;ENSP00000379120:P259Q;ENSP00000261641:P259Q	ENSP00000261641:P259Q	P	+	2	0	0	RAI1	17637763	17637763	0.005000	0.15991	0.900000	0.35374	0.430000	0.31655	2.123000	0.41996	2.203000	0.70933	0.491000	0.48974	CCG		0.667	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1		-3.699134	-18	-18	63	63	NM_030665		3	6.40696	6.406960	47	0.060000	1	0	6.4e-05	1	6.4e-05	3	47	0.06
ZNF460	10794	broad.mit.edu	37	19	57803250	57803250	+	Silent	SNP	G	G	A	rs141075189		TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr19:57803250G>A	ENST00000360338.3	+	3	1663	c.1341G>A	c.(1339-1341)ccG>ccA	p.P447P	ZNF460_ENST00000537645.1_Silent_p.P406P	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGAGAAGCCGTATGTATGCA	0.493																																						ENST00000360338.3											0			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1339-1341)ccG>ccA	zinc finger protein 460	G		2,4404	4.2+/-10.8	0,2,2201	117.0	103.0	108.0		1341	-2.4	0.2	19	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	ZNF460	NM_006635.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		447/563	57803250	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	10794			regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57803250G>A	X78931	X78931	CCDS12949.1	CCDS12949.1	19q13.4	2013-01-08			2013-01-08				ENSG00000197714		ENSG00000197714		"""Zinc fingers, C2H2-type"", ""-"""	"""Zinc fingers, C2H2-type"", ""-"""	21628	21628	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604755	604755	"""zinc finger protein 272"""	ZNF272	"""zinc finger protein 272"""	ZNF272		15004467	15004467	Standard	Standard	NM_006635	NM_006635		Approved	HZF8	uc002qog.2	uc002qog.2	Q14592	Q14592			ENST00000360338.3:c.1341G>A	19.37:g.57803250G>A			ZNF460_ENST00000537645.1_Silent_p.P406P	p.P447P	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1663	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	447		A4FU64|B4DNX9|Q2VPC7|Q6VSF8	Silent	SNP	ENST00000360338.3	37	c.1341G>A	CCDS12949.1																																																																																									0.493	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465727.1		-5.822854	-22	-22	63	63	NM_006635		3	6.506952	6.506952	55	0.051724	0	0	0	1	0	3	55	0.051724
OR2B3	442184	broad.mit.edu	37	6	29054153	29054153	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr6:29054153G>T	ENST00000377173.2	-	1	937	c.873C>A	c.(871-873)agC>agA	p.S291R		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TATTTCTAAGGCTGTAGATGA	0.403																																						ENST00000377173.2											0			breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						c.(871-873)agC>agA	olfactory receptor, family 2, subfamily B, member 3						77.0	75.0	76.0					6																	29054153		2203	4300	6503	SO:0001583	missense	442184						g.chr6:29054153G>T			CCDS34358.1	CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	"""GPCR / Class A : Olfactory receptors"""	8238	8238	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P	"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P				Standard	Standard	NM_001005226	NM_001005226		Approved	OR6-4	uc003nlx.3	uc003nlx.3	O76000	O76000	OTTHUMG00000031226	OTTHUMG00000031226	ENST00000377173.2:c.873C>A	6.37:g.29054153G>T	ENSP00000366378:p.Ser291Arg			p.S291R	NM_001005226.2	NP_001005226.1					1	937	-					B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	c.873C>A	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133853	0.37630	.	.	ENSG00000204703	ENST00000377173	T	0.39229	1.09	3.89	-1.29	0.09288	3.89	-1.29	0.09288	.	0.159316	0.28499	U	0.015139	T	0.26810	0.0656	M	0.84156	2.68	0.23581	N	0.997367	P	0.36683	0.565	B	0.38562	0.276	T	0.33111	-0.9881	10	0.87932	D	0	.	9.2439	0.37513	0.5349:0.0:0.4651:0.0	.	291	O76000	OR2B3_HUMAN	R	291	ENSP00000366378:S291R	ENSP00000366378:S291R	S	-	3	2	2	OR2B3	29162132	29162132	0.000000	0.05858	0.933000	0.37362	0.996000	0.88848	-0.137000	0.10389	-0.458000	0.07023	0.573000	0.79308	AGC		0.403	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2		23.892834	5	5	47	47			11	28.908026	28.908026	46	0.192982	1	0	4.3838e-07	1	4.58306e-07	11	46	0.192982
SRSF7	6432	broad.mit.edu	37	2	38975258	38975259	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr2:38975258_38975259delAG	ENST00000313117.6	-	5	739_740	c.502_503delCT	c.(502-504)cttfs	p.L168fs	SRSF7_ENST00000446327.2_Frame_Shift_Del_p.L168fs|SRSF7_ENST00000409276.1_Frame_Shift_Del_p.L168fs	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	168	6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGATCTACGAAGAGAGATAGAT	0.371																																						ENST00000313117.6											0			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(502-504)cttfs	serine/arginine-rich splicing factor 7																																			SO:0001589	frameshift_variant	6432			mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr2:38975258_38975259delAG	L41887	L41887	CCDS33183.1, CCDS56115.1	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875	ENSG00000115875	ENSG00000115875		"""Zinc fingers, CCHC domain containing"", ""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	"""Zinc fingers, CCHC domain containing"", ""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10789	10789	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""SR splicing factor 7"""	"""SR splicing factor 7"""	600572	600572	"""splicing factor, arginine/serine-rich 7 (35kD)"", ""splicing factor, arginine/serine-rich 7, 35kDa"""	SFRS7	"""splicing factor, arginine/serine-rich 7 (35kD)"", ""splicing factor, arginine/serine-rich 7, 35kDa"""	SFRS7		8013463, 20516191	8013463, 20516191	Standard	Standard	NM_001031684	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	uc002rqz.3	Q16629	Q16629	OTTHUMG00000102076	OTTHUMG00000102076	ENST00000313117.6:c.502_503delCT	2.37:g.38975262_38975263delAG	ENSP00000325905:p.Leu168fs		SRSF7_ENST00000446327.2_Frame_Shift_Del_p.L168fs|SRSF7_ENST00000409276.1_Frame_Shift_Del_p.L168fs	p.L168fs	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN			5	739_740	-			168	6 X 8 AA repeats of R-R-S-R-S-X-S-X.|Arg/Ser-rich (RS domain).	B4DLU6|G5E9M3|Q564D3	Frame_Shift_Del	DEL	ENST00000313117.6	37	c.502_503delCT	CCDS33183.1																																																																																									0.371	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	.	.	-25	-25	36	36	NM_001031684		9			71	0.11						9	71	0.11
TET3	200424	broad.mit.edu	37	2	74275098	74275099	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chr2:74275098_74275099delCC	ENST00000409262.3	+	1	1649_1650	c.1649_1650delCC	c.(1648-1650)tccfs	p.S550fs		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	550					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAAATGAGGTCCCCCAGCCCCA	0.614																																						ENST00000409262.3											0			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1648-1650)tccfs	tet methylcytosine dioxygenase 3																																			SO:0001589	frameshift_variant	200424					metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74275098_74275099delCC			CCDS46339.1, CCDS46339.2	CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605	ENSG00000187605	ENSG00000187605				28313	28313	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613555	613555	"""tet oncogene family member 3"""		"""tet oncogene family member 3"""			9455477	9455477	Standard	Standard	XM_005264187	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	uc031roi.1	O43151	O43151	OTTHUMG00000152823	OTTHUMG00000152823	ENST00000409262.3:c.1649_1650delCC	2.37:g.74275100_74275101delCC	ENSP00000386869:p.Ser550fs			p.S550fs	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	1649_1650	+			550		A6NEI3|Q86Z24|Q8TBM9	Frame_Shift_Del	DEL	ENST00000409262.3	37	c.1649_1650delCC	CCDS46339.1																																																																																									0.614	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4	.	.	-28	-28	20	20			30			30	0.50						30	30	0.5
EIF1AX	1964	broad.mit.edu	37	X	20156735	20156737	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-VD-A8KO-01A-11D-A39W-08	TCGA-VD-A8KO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfd27799-23c5-4da5-b141-68f854b4cc3e	6957c5b7-6b17-458b-858d-bfe4bb3bf874	g.chrX:20156735_20156737delCTT	ENST00000379607.5	-	2	223_225	c.20_22delAAG	c.(19-24)aaagga>aga	p.7_8KG>R	snoU2_19_ENST00000364722.1_RNA|EIF1AX-AS1_ENST00000424026.1_RNA|EIF1AX_ENST00000379593.1_Intron|snoU2-30_ENST00000365012.1_RNA	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	7					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTTTTACCTCCTTTACCTGATGG	0.305																																						ENST00000379607.5											0			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(19-24)aaagga>aga	eukaryotic translation initiation factor 1A, X-linked																																			SO:0001651	inframe_deletion	1964				cytosol	translation initiation factor activity	g.chrX:20156735_20156737delCTT	L18960	L18960	CCDS14196.1	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674	ENSG00000173674	ENSG00000173674				3250	3250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300186	300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	8106356, 9381176	Standard	Standard	NM_001412	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	uc004czt.3	P47813	P47813	OTTHUMG00000022704	OTTHUMG00000022704	ENST00000379607.5:c.20_22delAAG	X.37:g.20156735_20156737delCTT	ENSP00000368927:p.Lys7_Gly8delinsArg		EIF1AX_ENST00000379593.1_Intron	p.7_8KG>R	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			2	223_225	-			7		B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	In_Frame_Del	DEL	ENST00000379607.5	37	c.20_22delAAG	CCDS14196.1																																																																																									0.305	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1	.	.	-89	-89	71	71			35			2	0.95						35	2	0.95
