#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
PDE1B	5153	broad.mit.edu	37	12	54963377	54963377	+	Missense_Mutation	SNP	C	C	T	rs571112837	byFrequency	TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr12:54963377C>T	ENST00000243052.3	+	5	894	c.458C>T	c.(457-459)gCg>gTg	p.A153V	PDE1B_ENST00000538346.1_Missense_Mutation_p.A112V|PDE1B_ENST00000550620.1_Missense_Mutation_p.A133V|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	153					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TACTCTACTGCGGTTCTCAAC	0.488																																						ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(457-459)gCg>gTg		phosphodiesterase 1B, calmodulin-dependent							140.0	115.0	124.0					12																	54963377		2203	4300	6503	SO:0001583	missense	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54963377C>T	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.458C>T	12.37:g.54963377C>T	ENSP00000243052:p.Ala153Val					PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.A133V|PDE1B_ENST00000538346.1_Missense_Mutation_p.A112V	p.A153V	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			5	894	+			153					Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.458C>T	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	C	8.838	0.941527	0.18281	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.69685	-0.42;-0.4;-0.41	4.16	1.33	0.21861	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.201429	0.40302	N	0.001121	T	0.46718	0.1407	L	0.29908	0.895	0.36900	D	0.890337	B;B	0.20261	0.043;0.025	B;B	0.15870	0.014;0.006	T	0.29971	-0.9994	10	0.29301	T	0.29	.	5.5467	0.17067	0.1589:0.6614:0.0:0.1797	.	133;153	Q01064-2;Q01064	.;PDE1B_HUMAN	V	153;112;133	ENSP00000243052:A153V;ENSP00000442559:A112V;ENSP00000448519:A133V	ENSP00000243052:A153V	A	+	2	0	PDE1B	53249644	0.907000	0.30839	0.329000	0.25429	0.286000	0.27126	1.902000	0.39848	0.296000	0.22592	0.655000	0.94253	GCG		0.488	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			4	110	0	0	0	1	0	4	110				
LPA	4018	broad.mit.edu	37	6	160999682	160999682	+	Silent	SNP	A	A	G			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr6:160999682A>G	ENST00000316300.5	-	27	4388	c.4344T>C	c.(4342-4344)tgT>tgC	p.C1448C	LPA_ENST00000447678.1_Silent_p.C1448C			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3956	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCATGGTGTAACACCAAGGGC	0.517																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4342-4344)tgT>tgC		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						107.0	111.0	109.0					6																	160999682		2149	4275	6424	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160999682A>G	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4344T>C	6.37:g.160999682A>G						LPA_ENST00000316300.5_Silent_p.C1448C	p.C1448C	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	28	4464	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3956			Kringle 13.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.4344T>C	CCDS43523.1																																																																																				0.517	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		6	44	0	0	0	1	0	6	44				
CYP4A11	1579	broad.mit.edu	37	1	47402419	47402419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr1:47402419G>A	ENST00000310638.4	-	4	458	c.427C>T	c.(427-429)Cga>Tga	p.R143*	CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000462347.1_Nonsense_Mutation_p.R143*|CYP4A11_ENST00000371905.1_Nonsense_Mutation_p.R143*|CYP4A11_ENST00000371904.4_Nonsense_Mutation_p.R143*|CYP4A11_ENST00000457840.2_Nonsense_Mutation_p.R39*	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	143					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	AGCATCCGTCGATGCTGGAAC	0.527																																						ENST00000310638.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(427-429)Cga>Tga		cytochrome P450, family 4, subfamily A, polypeptide 11	NADH(DB00157)						109.0	83.0	92.0					1																	47402419		2203	4300	6503	SO:0001587	stop_gained	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47402419G>A	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.427C>T	1.37:g.47402419G>A	ENSP00000311095:p.Arg143*					CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_Nonsense_Mutation_p.R39*|CYP4A11_ENST00000371904.4_Nonsense_Mutation_p.R143*|CYP4A11_ENST00000371905.1_Nonsense_Mutation_p.R143*	p.R143*	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN			4	458	-			143					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Nonsense_Mutation	SNP	ENST00000310638.4	37	c.427C>T	CCDS543.1	.	.	.	.	.	.	.	.	.	.	N	23.1	4.378508	0.82682	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905;ENST00000457840	.	.	.	5.32	2.18	0.27775	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.3463	0.38111	0.0665:0.0:0.5742:0.3593	.	.	.	.	X	143;143;143;39	.	ENSP00000311095:R143X	R	-	1	2	CYP4A11	47175006	0.645000	0.27286	0.827000	0.32855	0.672000	0.39443	-0.003000	0.12901	0.573000	0.29400	0.644000	0.83932	CGA		0.527	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		13	3	0	0	0	1	0	13	3				
TRIM71	131405	broad.mit.edu	37	3	32932862	32932862	+	Silent	SNP	C	C	T			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr3:32932862C>T	ENST00000383763.5	+	4	2229	c.2166C>T	c.(2164-2166)caC>caT	p.H722H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	722					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGAGGAACCACCGGATCCAGC	0.542																																						ENST00000383763.4																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2164-2166)caC>caT		tripartite motif containing 71, E3 ubiquitin protein ligase							45.0	51.0	49.0					3																	32932862		2023	4181	6204	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32932862C>T		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2166C>T	3.37:g.32932862C>T							p.H722H	NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN			4	2229	+			722						Silent	SNP	ENST00000383763.5	37	c.2166C>T	CCDS43060.1																																																																																				0.542	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		12	4	0	0	0	1	0	12	4				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			5	50	0	0	0	1	0	5	50				
SEH1L	81929	broad.mit.edu	37	18	12971218	12971218	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr18:12971218G>T	ENST00000262124.11	+	5	715	c.588G>T	c.(586-588)aaG>aaT	p.K196N	SEH1L_ENST00000399892.2_Missense_Mutation_p.K196N	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	196					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CAATGGCCAAGGTTCAGATTT	0.373																																						ENST00000262124.11																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(586-588)aaG>aaT		SEH1-like (S. cerevisiae)							112.0	108.0	110.0					18																	12971218		2203	4300	6503	SO:0001583	missense	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12971218G>T	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.588G>T	18.37:g.12971218G>T	ENSP00000262124:p.Lys196Asn					SEH1L_ENST00000399892.2_Missense_Mutation_p.K196N	p.K196N	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN			5	715	+			196					A8K5B1|Q8NFU6|Q96MH3|Q9C069	Missense_Mutation	SNP	ENST00000262124.11	37	c.588G>T	CCDS45832.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.603786	0.66445	.	.	ENSG00000085415	ENST00000399892;ENST00000262124	T;T	0.66099	-0.19;-0.19	5.76	2.65	0.31530	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	M	0.83384	2.64	0.58432	D	0.999998	D;D	0.71674	0.992;0.998	D;D	0.69654	0.957;0.965	T	0.71388	-0.4608	10	0.27785	T	0.31	-18.0785	9.5227	0.39145	0.4642:0.0:0.5358:0.0	.	196;196	Q96EE3;Q96EE3-1	SEH1_HUMAN;.	N	196	ENSP00000382779:K196N;ENSP00000262124:K196N	ENSP00000262124:K196N	K	+	3	2	SEH1L	12961218	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	0.976000	0.29462	0.222000	0.20900	0.563000	0.77884	AAG		0.373	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		22	32	1	0	9.57634e-11	1	1.03424e-10	22	32				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	18	0	0	0	1	0	3	18				
ZNF503	84858	broad.mit.edu	37	10	77158808	77158808	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr10:77158808C>T	ENST00000372524.4	-	2	2126	c.1640G>A	c.(1639-1641)gGg>gAg	p.G547E	ZNF503-AS2_ENST00000466942.2_RNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.G547E|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	547					G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TTTGTCTGTCCCGGGAAATGC	0.662																																						ENST00000372524.4																			0				lung(4)|ovary(1)|skin(1)	6						c.(1639-1641)gGg>gAg		zinc finger protein 503							25.0	22.0	23.0					10																	77158808		2202	4298	6500	SO:0001583	missense	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77158808C>T	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.1640G>A	10.37:g.77158808C>T	ENSP00000361602:p.Gly547Glu					ZNF503_ENST00000535216.1_Missense_Mutation_p.G547E|RP11-399K21.11_ENST00000418818.2_lincRNA	p.G547E	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN			2	2126	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		547					Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	ENST00000372524.4	37	c.1640G>A	CCDS7350.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242513	0.79912	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	T;T	0.48836	0.8;0.8	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.68559	0.3014	M	0.71036	2.16	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	T	0.72747	-0.4200	10	0.66056	D	0.02	-9.1857	17.6259	0.88093	0.0:1.0:0.0:0.0	.	547	Q96F45	ZN503_HUMAN	E	547;547;510	ENSP00000361602:G547E;ENSP00000438988:G547E	ENSP00000361594:G510E	G	-	2	0	ZNF503	76828814	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.227000	0.78070	2.376000	0.81061	0.643000	0.83706	GGG		0.662	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		17	17	0	0	0	1	0	17	17				
RNF149	284996	broad.mit.edu	37	2	101898392	101898392	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr2:101898392G>A	ENST00000295317.3	-	6	1195	c.1088C>T	c.(1087-1089)tCc>tTc	p.S363F		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	363					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						TTCAGCAGGGGAGGCTGATGG	0.483																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(1087-1089)tCc>tTc		ring finger protein 149							167.0	150.0	156.0					2																	101898392		2203	4300	6503	SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101898392G>A	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.1088C>T	2.37:g.101898392G>A	ENSP00000295317:p.Ser363Phe						p.S363F	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN			6	1195	-			363					Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	c.1088C>T	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288027	0.80803	.	.	ENSG00000163162	ENST00000295317	T	0.10477	2.87	5.63	5.63	0.86233	.	0.086238	0.50627	D	0.000120	T	0.25865	0.0630	L	0.59436	1.845	0.41888	D	0.990353	D	0.54397	0.966	P	0.54401	0.751	T	0.00275	-1.1856	10	0.87932	D	0	.	19.2864	0.94072	0.0:0.0:1.0:0.0	.	363	Q8NC42	RN149_HUMAN	F	363	ENSP00000295317:S363F	ENSP00000295317:S363F	S	-	2	0	RNF149	101264824	1.000000	0.71417	0.115000	0.21578	0.026000	0.11368	6.054000	0.71096	2.644000	0.89710	0.563000	0.77884	TCC		0.483	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		41	52	0	0	0	1	0	41	52				
ANKRD17	26057	broad.mit.edu	37	4	74005476	74005476	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr4:74005476T>C	ENST00000358602.4	-	15	2973	c.2857A>G	c.(2857-2859)Atc>Gtc	p.I953V	ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.I840V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	953	Gln-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAGGCTGGATTGGCGCAAAA	0.532																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(2857-2859)Atc>Gtc		ankyrin repeat domain 17							71.0	69.0	70.0					4																	74005476		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74005476T>C	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.2857A>G	4.37:g.74005476T>C	ENSP00000351416:p.Ile953Val					ANKRD17_ENST00000509867.2_Missense_Mutation_p.I840V|ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000514252.1_5'UTR	p.I953V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		15	2973	-	Breast(15;0.000295)		953			Gln-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.2857A>G	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	T	2.440	-0.328886	0.05314	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000509867;ENST00000411811	T;T	0.65178	-0.14;-0.12	5.87	3.41	0.39046	Ankyrin repeat-containing domain (1);	0.078222	0.53938	D	0.000056	T	0.48077	0.1480	L	0.32530	0.975	0.80722	D	1	B;B;B;B	0.10296	0.002;0.0;0.003;0.001	B;B;B;B	0.09377	0.004;0.001;0.001;0.001	T	0.30621	-0.9972	10	0.31617	T	0.26	.	10.3623	0.44001	0.0:0.1909:0.0:0.8091	.	474;953;953;840	B4DR08;O75179-2;O75179;E7EUV3	.;.;ANR17_HUMAN;.	V	953;953;840;953	ENSP00000351416:I953V;ENSP00000427151:I840V	ENSP00000351416:I953V	I	-	1	0	ANKRD17	74224340	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.261000	0.43276	0.553000	0.29044	0.533000	0.62120	ATC		0.532	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		37	27	0	0	0	1	0	37	27				
ADAT1	23536	broad.mit.edu	37	16	75646709	75646709	+	Missense_Mutation	SNP	A	A	T			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr16:75646709A>T	ENST00000307921.3	-	7	620	c.475T>A	c.(475-477)Tgt>Agt	p.C159S		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	159	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						AAGACAGGACAGCAAGGCTGA	0.478																																						ENST00000307921.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						c.(475-477)Tgt>Agt		adenosine deaminase, tRNA-specific 1							71.0	75.0	73.0					16																	75646709		2198	4300	6498	SO:0001583	missense	23536				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity	g.chr16:75646709A>T	AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.475T>A	16.37:g.75646709A>T	ENSP00000310015:p.Cys159Ser						p.C159S	NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN			7	620	-			159			A to I editase.		Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	c.475T>A	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	A	7.776	0.708464	0.15239	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	T	0.12774	2.65	5.75	0.855	0.19013	Adenosine deaminase/editase (3);	1.165670	0.05774	N	0.607418	T	0.08044	0.0201	N	0.26130	0.795	0.09310	N	1	B	0.09022	0.002	B	0.15870	0.014	T	0.40440	-0.9563	10	0.12766	T	0.61	3.0171	1.4225	0.02315	0.4112:0.1448:0.3044:0.1396	.	159	Q9BUB4	ADAT1_HUMAN	S	159;130	ENSP00000310015:C159S	ENSP00000310015:C159S	C	-	1	0	ADAT1	74204210	0.016000	0.18221	0.923000	0.36655	0.795000	0.44927	0.979000	0.29500	0.456000	0.26937	0.533000	0.62120	TGT		0.478	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091		29	38	0	0	0	1	0	29	38				
ARHGAP9	64333	broad.mit.edu	37	12	57868688	57868688	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr12:57868688G>A	ENST00000356411.2	-	13	1816	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R541W|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R620W|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.R631W|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R357W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R541W|ARHGAP9_ENST00000550454.1_5'Flank			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	560	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			ATGCAGAGCCGCAAAAAGCTG	0.547																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(1891-1893)Cgg>Tgg		Rho GTPase activating protein 9							55.0	53.0	54.0					12																	57868688		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57868688G>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1678C>T	12.37:g.57868688G>A	ENSP00000348782:p.Arg560Trp					ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R560W|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R541W|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R620W|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R357W|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R541W	p.R631W			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		16	2083	-			560			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.1891C>T		.	.	.	.	.	.	.	.	.	.	G	18.53	3.644828	0.67358	.	.	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09	5.2	3.31	0.37934	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.126110	0.52532	D	0.000063	T	0.39436	0.1078	L	0.55834	1.745	0.44268	D	0.997121	D;D;D;D;P	0.89917	0.999;1.0;0.998;1.0;0.94	D;D;P;D;B	0.87578	0.916;0.998;0.809;0.997;0.362	T	0.13072	-1.0523	10	0.56958	D	0.05	.	12.3366	0.55071	0.0:0.0:0.6927:0.3072	.	620;560;541;541;357	Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;RHG09_HUMAN;.;.;.	W	541;560;211;541;631;590;357;48	ENSP00000377380:R541W;ENSP00000348782:R560W;ENSP00000394307:R541W;ENSP00000377386:R631W;ENSP00000397950:R357W;ENSP00000448423:R48W	ENSP00000344852:R590W	R	-	1	2	ARHGAP9	56154955	0.011000	0.17503	0.986000	0.45419	0.989000	0.77384	1.565000	0.36386	0.814000	0.34374	-0.175000	0.13238	CGG		0.547	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		3	44	0	0	0	1	0	3	44				
SSH1	54434	broad.mit.edu	37	12	109192840	109192840	+	Missense_Mutation	SNP	T	T	C	rs144199955		TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr12:109192840T>C	ENST00000326495.5	-	13	1378	c.1285A>G	c.(1285-1287)Atc>Gtc	p.I429V	SSH1_ENST00000551165.1_Missense_Mutation_p.I429V|SSH1_ENST00000360239.3_Missense_Mutation_p.I117V|SSH1_ENST00000326470.5_Missense_Mutation_p.I440V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	429	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGCGCGTGATGCTGCGCTTC	0.562													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19833	0.0		0.0	False		,,,				2504	0.0					ENST00000326495.5																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1285-1287)Atc>Gtc		slingshot protein phosphatase 1							79.0	75.0	76.0					12																	109192840		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109192840T>C	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1285A>G	12.37:g.109192840T>C	ENSP00000315713:p.Ile429Val					SSH1_ENST00000360239.3_Missense_Mutation_p.I117V|SSH1_ENST00000326470.5_Missense_Mutation_p.I440V|SSH1_ENST00000551165.1_Missense_Mutation_p.I429V	p.I429V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN			13	1378	-			429			Tyrosine-protein phosphatase.		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.1285A>G	CCDS9121.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	T	12.41	1.930417	0.34096	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	D;T;T;T	0.85484	-1.99;1.34;1.34;1.34	5.11	2.75	0.32379	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.094281	0.64402	N	0.000001	D	0.85535	0.5719	L	0.41079	1.255	0.30328	N	0.786909	B;B;B;D	0.62365	0.034;0.053;0.106;0.991	B;B;B;D	0.72625	0.108;0.043;0.123;0.978	T	0.78653	-0.2120	10	0.19147	T	0.46	-24.8017	8.0298	0.30459	0.0:0.2245:0.0:0.7755	.	440;429;429;117	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	V	117;429;429;440	ENSP00000353374:I117V;ENSP00000315713:I429V;ENSP00000448824:I429V;ENSP00000326107:I440V	ENSP00000326107:I440V	I	-	1	0	SSH1	107716969	1.000000	0.71417	0.975000	0.42487	0.858000	0.48976	1.866000	0.39489	0.381000	0.24851	0.533000	0.62120	ATC		0.562	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		28	27	0	0	0	1	0	28	27				
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629	byFrequency	TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488													.|||	6	0.00119808	0.0015	0.0014	5008	,	,		19834	0.001		0.002	False		,,,				2504	0.0					ENST00000535591.1																			1	Substitution - Missense(1)	p.H82R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(244-246)cAt>cGt		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887612T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.245A>G	1.37:g.12887612T>C	ENSP00000439551:p.His82Arg						p.H82R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	440	-			82						Missense_Mutation	SNP	ENST00000535591.1	37	c.245A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.046	-1.266700	0.01433	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.14766	2.48;2.48	1.48	-2.96	0.05547	.	7.429810	0.00166	N	0.000002	T	0.07818	0.0196	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.24483	T	0.36	.	3.1667	0.06538	0.0:0.2637:0.2217:0.5146	rs60558629	82	O60813	PRA11_HUMAN	R	82;123;82	ENSP00000439551:H82R;ENSP00000391839:H82R	ENSP00000328783:H123R	H	-	2	0	PRAMEF11	12810199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.061000	0.11693	-1.287000	0.02381	-0.610000	0.04054	CAT		0.488	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		4	124	0	0	0	1	0	4	124				
ALDH1A3	220	broad.mit.edu	37	15	101440899	101440899	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr15:101440899G>A	ENST00000329841.5	+	9	1535	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.V228M|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	335					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	CAGGCGGAGCGTGGAGTATGC	0.572																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(1003-1005)Gtg>Atg		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)						71.0	65.0	67.0					15																	101440899		2203	4300	6503	SO:0001583	missense	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101440899G>A	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.1003G>A	15.37:g.101440899G>A	ENSP00000332256:p.Val335Met					RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.V228M	p.V335M	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		9	1535	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		335					Q6NT64	Missense_Mutation	SNP	ENST00000329841.5	37	c.1003G>A	CCDS10389.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372533	0.82573	.	.	ENSG00000184254	ENST00000329841;ENST00000346623	T	0.18174	2.23	5.7	5.7	0.88788	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.123571	0.56097	D	0.000037	T	0.46521	0.1397	M	0.86651	2.83	0.50039	D	0.999844	D;D	0.89917	1.0;0.997	D;D	0.80764	0.994;0.917	T	0.50294	-0.8845	10	0.66056	D	0.02	.	13.0882	0.59153	0.0731:0.0:0.9269:0.0	.	239;335	Q7Z3A2;P47895	.;AL1A3_HUMAN	M	335;239	ENSP00000332256:V335M	ENSP00000332256:V335M	V	+	1	0	ALDH1A3	99258422	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.504000	0.60414	2.671000	0.90904	0.655000	0.94253	GTG		0.572	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			9	22	0	0	0	1	0	9	22				
TM7SF3	51768	broad.mit.edu	37	12	27129269	27129269	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr12:27129269T>C	ENST00000343028.4	-	10	1436	c.1211A>G	c.(1210-1212)gAt>gGt	p.D404G	RP11-421F16.3_ENST00000500632.1_RNA	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	404						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TACACCATCATCATGAAAAAT	0.363																																						ENST00000343028.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1210-1212)gAt>gGt		transmembrane 7 superfamily member 3							106.0	103.0	104.0					12																	27129269		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27129269T>C	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.1211A>G	12.37:g.27129269T>C	ENSP00000342322:p.Asp404Gly					RP11-421F16.3_ENST00000500632.1_RNA	p.D404G	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN			10	1436	-	Colorectal(261;0.0847)		404					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.1211A>G	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.982221	0.34942	.	.	ENSG00000064115	ENST00000343028;ENST00000545344;ENST00000537406	T	0.31247	1.5	5.18	2.65	0.31530	.	0.266014	0.42821	D	0.000655	T	0.27169	0.0666	L	0.57536	1.79	0.32530	N	0.535032	B	0.31125	0.309	B	0.31946	0.138	T	0.30937	-0.9961	10	0.37606	T	0.19	-9.0661	7.8833	0.29635	0.1355:0.0:0.1412:0.7232	.	404	Q9NS93	TM7S3_HUMAN	G	404;118;22	ENSP00000342322:D404G	ENSP00000342322:D404G	D	-	2	0	TM7SF3	27020536	0.967000	0.33354	0.264000	0.24511	0.755000	0.42902	3.477000	0.53151	1.076000	0.40961	0.533000	0.62120	GAT		0.363	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		7	22	0	0	0	1	0	7	22				
TGFBRAP1	9392	broad.mit.edu	37	2	105924111	105924111	+	Silent	SNP	T	T	A			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr2:105924111T>A	ENST00000393359.2	-	2	1074	c.648A>T	c.(646-648)atA>atT	p.I216I	TGFBRAP1_ENST00000258449.1_Silent_p.I216I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	216	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CCTGTCTCCCTATCCTCTTGA	0.587																																					Esophageal Squamous(183;794 2019 9730 21801 48859)	ENST00000393359.2																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(646-648)atA>atT		transforming growth factor, beta receptor associated protein 1							98.0	112.0	107.0					2																	105924111		2203	4300	6503	SO:0001819	synonymous_variant	9392				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	g.chr2:105924111T>A	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.648A>T	2.37:g.105924111T>A						TGFBRAP1_ENST00000258449.1_Silent_p.I216I	p.I216I			Q8WUH2	TGFA1_HUMAN			2	1074	-			216			CNH.		A8K5R7|D3DVJ8|O60466	Silent	SNP	ENST00000393359.2	37	c.648A>T	CCDS2067.1																																																																																				0.587	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257		6	149	0	0	0	1	0	6	149				
SIGLEC11	114132	broad.mit.edu	37	19	50461638	50461638	+	Missense_Mutation	SNP	A	A	G			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr19:50461638A>G	ENST00000447370.2	-	8	1643	c.1553T>C	c.(1552-1554)cTg>cCg	p.L518P	CTC-326K19.6_ENST00000451973.1_Missense_Mutation_p.L4P|SIGLEC11_ENST00000426971.2_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	518					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		ATGGAGGCTCAGGGAGCTGTT	0.677																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1552-1554)cTg>cCg		sialic acid binding Ig-like lectin 11							26.0	30.0	28.0					19																	50461638		2202	4297	6499	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50461638A>G	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1553T>C	19.37:g.50461638A>G	ENSP00000412361:p.Leu518Pro					CTC-326K19.6_ENST00000451973.1_Missense_Mutation_p.L4P|SIGLEC11_ENST00000426971.2_Intron	p.L518P	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	8	1643	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	518						Missense_Mutation	SNP	ENST00000447370.2	37	c.1553T>C	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	A	16.60	3.167107	0.57476	.	.	ENSG00000161640	ENST00000447370	D	0.91577	-2.87	2.86	2.86	0.33363	.	0.000000	0.42294	D	0.000721	D	0.94827	0.8329	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94017	0.7289	9	.	.	.	.	7.8527	0.29464	1.0:0.0:0.0:0.0	.	518	Q96RL6	SIG11_HUMAN	P	518	ENSP00000412361:L518P	.	L	-	2	0	SIGLEC11	55153450	0.994000	0.37717	1.000000	0.80357	0.965000	0.64279	1.353000	0.34045	1.267000	0.44247	0.454000	0.30748	CTG		0.677	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		3	28	0	0	0	1	0	3	28				
CENPJ	55835	broad.mit.edu	37	13	25466996	25466996	+	Missense_Mutation	SNP	G	G	T	rs200583239		TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr13:25466996G>T	ENST00000381884.4	-	10	3186	c.3001C>A	c.(3001-3003)Cag>Aag	p.Q1001K	CENPJ_ENST00000545981.1_Missense_Mutation_p.Q1001K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1001					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GCTATTTGCTGTTTTAAAGTC	0.333																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(3001-3003)Cag>Aag		centromere protein J							105.0	101.0	103.0					13																	25466996		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25466996G>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3001C>A	13.37:g.25466996G>T	ENSP00000371308:p.Gln1001Lys					CENPJ_ENST00000545981.1_Missense_Mutation_p.Q1001K	p.Q1001K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	10	3186	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1001					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.3001C>A	CCDS9310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.82|15.82	2.946412|2.946412	0.53079|0.53079	.|.	.|.	ENSG00000151849|ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729|ENST00000418179	T;T|.	0.37235|.	1.21;1.75|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.176589|.	0.51477|.	D|.	0.000086|.	T|T	0.68229|0.68229	0.2978|0.2978	L|L	0.45581|0.45581	1.43|1.43	0.52501|0.52501	D|D	0.999954|0.999954	B;B|.	0.13594|.	0.008;0.001|.	B;B|.	0.15484|.	0.013;0.002|.	T|T	0.64385|0.64385	-0.6420|-0.6420	10|5	0.19590|.	T|.	0.45|.	.|.	17.9193|17.9193	0.88961|0.88961	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	82;1001|.	Q5T6R6;Q9HC77|.	.;CENPJ_HUMAN|.	K|K	1001|82	ENSP00000371308:Q1001K;ENSP00000441090:Q1001K|.	ENSP00000371308:Q1001K|.	Q|T	-|-	1|2	0|0	CENPJ|CENPJ	24364996|24364996	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.874000|5.874000	0.69652|0.69652	2.606000|2.606000	0.88127|0.88127	0.555000|0.555000	0.69702|0.69702	CAG|ACA		0.333	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		7	56	1	0	7.48243e-07	1	7.48243e-07	7	56				
TTLL6	284076	broad.mit.edu	37	17	46847140	46847140	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr17:46847140G>A	ENST00000393382.3	-	14	2501	c.2360C>T	c.(2359-2361)tCc>tTc	p.S787F	TTLL6_ENST00000433608.2_Missense_Mutation_p.S480F	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGGGAAGAAGGAGAGCTTCCC	0.507																																						ENST00000393382.3																			0				endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(2359-2361)tCc>tTc		tubulin tyrosine ligase-like family, member 6							130.0	116.0	121.0					17																	46847140		2203	4300	6503	SO:0001583	missense	284076					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr17:46847140G>A	AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2360C>T	17.37:g.46847140G>A	ENSP00000377043:p.Ser787Phe					TTLL6_ENST00000433608.2_Missense_Mutation_p.S480F	p.S787F	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN			14	2501	-			739						Missense_Mutation	SNP	ENST00000393382.3	37	c.2360C>T	CCDS45724.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762597	0.49574	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	.	.	.	4.62	0.455	0.16649	.	.	.	.	.	T	0.38480	0.1042	L	0.51422	1.61	0.09310	N	1	B;B	0.14805	0.005;0.011	B;B	0.15052	0.005;0.012	T	0.37126	-0.9719	8	0.59425	D	0.04	.	6.3322	0.21276	0.4125:0.0:0.5875:0.0	.	739;480	Q8N841;G5E937	TTLL6_HUMAN;.	F	787;480;465;739	.	ENSP00000302547:S480F	S	-	2	0	TTLL6	44202139	0.179000	0.23135	0.001000	0.08648	0.178000	0.23041	1.160000	0.31761	0.289000	0.22422	0.655000	0.94253	TCC		0.507	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346939.3	NM_173623		25	35	0	0	0	1	0	25	35				
PLCH1	23007	broad.mit.edu	37	3	155200763	155200763	+	Missense_Mutation	SNP	A	A	T			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr3:155200763A>T	ENST00000340059.7	-	23	3075	c.3076T>A	c.(3076-3078)Tca>Aca	p.S1026T	PLCH1_ENST00000460012.1_Missense_Mutation_p.S988T|PLCH1_ENST00000414191.1_Missense_Mutation_p.S988T|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000334686.6_Missense_Mutation_p.S988T|PLCH1-AS2_ENST00000472913.1_RNA	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1026	Poly-Ser.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GAGGAGGATGATAACTTTTTG	0.418																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(2962-2964)Tca>Aca		phospholipase C, eta 1							152.0	155.0	154.0					3																	155200763		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200763A>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3076T>A	3.37:g.155200763A>T	ENSP00000345988:p.Ser1026Thr					PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.S988T|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1026T|PLCH1_ENST00000334686.6_Missense_Mutation_p.S988T|PLCH1_ENST00000494598.1_Intron	p.S988T			Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	3319	-			1026					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.2962T>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.452335	0.26074	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.03	3.87	0.44632	.	1.547940	0.02757	N	0.118195	T	0.22742	0.0549	L	0.44542	1.39	0.09310	N	1	B;B	0.25772	0.112;0.134	B;B	0.17722	0.019;0.018	T	0.30707	-0.9969	10	0.30078	T	0.28	.	10.9108	0.47108	0.9254:0.0:0.0745:0.0	.	988;1026	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	T	988;1026;988;988	ENSP00000417502:S988T;ENSP00000345988:S1026T;ENSP00000335469:S988T;ENSP00000412977:S988T	ENSP00000335469:S988T	S	-	1	0	PLCH1	156683457	0.577000	0.26708	0.559000	0.28332	0.460000	0.32559	1.077000	0.30741	0.865000	0.35603	0.482000	0.46254	TCA		0.418	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		33	7	0	0	0	1	0	33	7				
RET	5979	broad.mit.edu	37	10	43617416	43617416	+	Missense_Mutation	SNP	T	T	C	rs74799832		TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr10:43617416T>C	ENST00000355710.3	+	16	2985	c.2753T>C	c.(2752-2754)aTg>aCg	p.M918T	RET_ENST00000340058.5_Missense_Mutation_p.M918T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	918	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		M -> T (in MEN2B and MTC; sporadic form; somatic mutation; also found in a patient with renal agenesis; dbSNP:rs74799832). {ECO:0000269|PubMed:18252215, ECO:0000269|PubMed:7906417, ECO:0000269|PubMed:7906866, ECO:0000269|PubMed:7911697, ECO:0000269|PubMed:8595427, ECO:0000269|PubMed:8807338}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.M918T(247)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GTTAAATGGATGGCAATTGAA	0.443		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	247	Substitution - Missense(247)	p.M918T(247)	thyroid(231)|adrenal_gland(16)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607	GRCh37	CM941246	RET	M	rs74799832	c.(2752-2754)aTg>aCg		ret proto-oncogene	Sunitinib(DB01268)						262.0	244.0	250.0					10																	43617416		2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43617416T>C	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2753T>C	10.37:g.43617416T>C	ENSP00000347942:p.Met918Thr					RET_ENST00000340058.5_Missense_Mutation_p.M918T	p.M918T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			16	2985	+		Ovarian(717;0.0423)	918		M -> T (in RADYS, MEN2B and MTC; sporadic form; somatic mutation).	Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.2753T>C	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427864	0.83667	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.90504	-2.68;-2.68	5.43	5.43	0.79202	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93719	0.7993	L	0.52126	1.63	0.80722	A	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94557	0.7759	9	0.87932	D	0	.	15.7766	0.78224	0.0:0.0:0.0:1.0	.	664;918;918	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	T	918	ENSP00000347942:M918T;ENSP00000344798:M918T	ENSP00000344798:M918T	M	+	2	0	RET	42937422	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.986000	0.88173	2.198000	0.70561	0.533000	0.62120	ATG		0.443	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		48	76	0	0	0	1	0	48	76				
ABCB9	23457	broad.mit.edu	37	12	123466570	123466570	+	5'Flank	SNP	C	C	T			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr12:123466570C>T	ENST00000542678.1	-	0	0				ARL6IP4_ENST00000392435.2_Missense_Mutation_p.A283V|ARL6IP4_ENST00000439686.2_Missense_Mutation_p.A171V|ARL6IP4_ENST00000453766.2_Missense_Mutation_p.A294V|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000454885.2_Missense_Mutation_p.A168V|ARL6IP4_ENST00000315580.5_Missense_Mutation_p.A302V|ARL6IP4_ENST00000357866.4_Intron|ARL6IP4_ENST00000412505.2_Intron|ARL6IP4_ENST00000543566.1_Missense_Mutation_p.A283V|ARL6IP4_ENST00000426960.2_Missense_Mutation_p.A160V			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9						peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GAGTGGGATGCCCGGCAGAGC	0.622																																					Ovarian(49;786 1333 9175 38236)	ENST00000315580.5																			0											c.(904-906)gCc>gTc		ADP-ribosylation-like factor 6 interacting protein 4							65.0	62.0	63.0					12																	123466570		2203	4300	6503	SO:0001631	upstream_gene_variant	51329				RNA splicing	nucleus		g.chr12:123466570C>T	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78			12.37:g.123466570C>T	Exception_encountered					RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000543566.1_Missense_Mutation_p.A283V|ARL6IP4_ENST00000454885.2_Missense_Mutation_p.A168V|ARL6IP4_ENST00000412505.2_Intron|ARL6IP4_ENST00000439686.2_Missense_Mutation_p.A171V|ARL6IP4_ENST00000357866.4_Intron|ARL6IP4_ENST00000453766.2_Missense_Mutation_p.A294V|ARL6IP4_ENST00000392435.2_Missense_Mutation_p.A283V|ARL6IP4_ENST00000426960.2_Missense_Mutation_p.A160V	p.A302V			Q66PJ3	AR6P4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	4	1233	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		302					B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.905C>T	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	C	36	5.600602	0.96614	.	.	ENSG00000182196	ENST00000543566;ENST00000315580;ENST00000542099;ENST00000392435;ENST00000413381;ENST00000426960;ENST00000453766;ENST00000454885;ENST00000439686;ENST00000456762	T;T;T;T;T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47;0.47	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.73297	0.3569	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.76494	0.992;0.999;0.999;0.999;0.999	P;D;D;D;D	0.70935	0.85;0.951;0.971;0.971;0.951	T	0.76421	-0.2965	10	0.72032	D	0.01	.	18.9825	0.92760	0.0:1.0:0.0:0.0	.	168;283;283;302;294	B3V0L1;Q66PJ3-4;B3V0L0;Q66PJ3;Q66PJ3-2	.;.;.;AR6P4_HUMAN;.	V	283;302;291;283;171;160;294;168;171;161	ENSP00000442718:A283V;ENSP00000313422:A302V;ENSP00000442200:A291V;ENSP00000376230:A283V;ENSP00000441406:A171V;ENSP00000406036:A160V;ENSP00000414847:A294V;ENSP00000396723:A168V;ENSP00000396365:A171V;ENSP00000391598:A161V	ENSP00000313422:A302V	A	+	2	0	ARL6IP4	122032523	1.000000	0.71417	0.757000	0.31301	0.772000	0.43724	5.713000	0.68415	2.475000	0.83589	0.561000	0.74099	GCC		0.622	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		3	29	0	0	0	1	0	3	29				
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs147310450|rs141096512|rs58784721	byFrequency	TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485														1607	0.320887	0.3389	0.366	5008	,	,		16526	0.1716		0.3738	False		,,,				2504	0.364					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17721722_17721723delGA	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17721724_17721725delGA										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1545	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	DEL	ENST00000434762.2	37																																																																																						0.485	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		2	4						2	4	---	---	---	---
CYP4Z2P	163720	broad.mit.edu	37	1	47310359	47310360	+	RNA	INS	-	-	T	rs372212671		TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr1:47310359_47310360insT	ENST00000505841.1	-	0	1269					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CAAAAACAAAACCCTAGATATT	0.421																																						ENST00000505841.1																			0																																																			163720							g.chr1:47310359_47310360insT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47310359_47310360insT								NR_002788.2						0	1269	-								Q66ZJ5	RNA	INS	ENST00000505841.1	37																																																																																						0.421	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		3	6						3	6	---	---	---	---
FAM72B	653820	broad.mit.edu	37	1	120854564	120854564	+	Nonsense_Mutation	SNP	C	C	A			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr1:120854564C>A	ENST00000369390.3	+	4	1257	c.428C>A	c.(427-429)tCa>tAa	p.S143*	FAM72B_ENST00000471903.2_3'UTR|FAM72B_ENST00000355228.4_Nonsense_Mutation_p.S103*	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	143										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		TTAAATATCTCAGCAGAGGAG	0.269																																						ENST00000369390.3																			0				large_intestine(1)|lung(2)	3						c.(427-429)tCa>tAa		family with sequence similarity 72, member B							50.0	50.0	50.0					1																	120854564		1777	4036	5813	SO:0001587	stop_gained	653820							g.chr1:120854564C>A	AL357493	CCDS72848.1	1p12	2014-05-06			ENSG00000188610	ENSG00000188610			24805	protein-coding gene	gene with protein product		614711					Standard	NM_001100910		Approved	RP11-439A17.6	uc009whp.3	Q86X60	OTTHUMG00000185025	ENST00000369390.3:c.428C>A	1.37:g.120854564C>A	ENSP00000358397:p.Ser143*					FAM72B_ENST00000355228.4_Nonsense_Mutation_p.S103*|FAM72B_ENST00000471903.2_3'UTR	p.S143*	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)	4	1257	+	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)	143					B2RPQ5|Q5QP15	Nonsense_Mutation	SNP	ENST00000369390.3	37	c.428C>A	CCDS41374.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562402	0.86335	.	.	ENSG00000188610	ENST00000369392;ENST00000369390;ENST00000452190;ENST00000355228	.	.	.	2.63	2.63	0.31362	.	0.210193	0.32836	U	0.005587	.	.	.	.	.	.	0.48696	D	0.999691	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8378	0.35123	0.0:1.0:0.0:0.0	.	.	.	.	X	114;143;114;103	.	ENSP00000347368:S103X	S	+	2	0	FAM72B	120656087	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	3.818000	0.55678	1.487000	0.48415	0.398000	0.26397	TCA		0.269	FAM72B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098437.1			21	3	1	0	4.59853e-10	1	4.77539e-10	21	3				
OBSCN	84033	broad.mit.edu	37	1	228540722	228540722	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr1:228540722delA	ENST00000422127.1	+	79	18664	c.18620delA	c.(18619-18621)cagfs	p.Q6207fs	OBSCN_ENST00000570156.2_Frame_Shift_Del_p.Q7164fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.Q3841fs|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.Q3326fs|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.Q6207fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6207					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCAGGCCCAGGAGCAGTGT	0.697																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(21490-21492)cgfs		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							15.0	20.0	19.0					1																	228540722		2102	4190	6292	SO:0001589	frameshift_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228540722delA	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.18620delA	1.37:g.228540722delA	ENSP00000409493:p.Gln6207fs					OBSCN_ENST00000284548.11_Frame_Shift_Del_p.Q6207fs|OBSCN_ENST00000422127.1_Frame_Shift_Del_p.Q6207fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.Q3841fs|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.Q3326fs	p.Q7164fs	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			90	21565	+		Prostate(94;0.0405)	6207					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	ENST00000422127.1	37	c.21491delA	CCDS58065.1																																																																																				0.697	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		2	4						2	4	---	---	---	---
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs3216150|rs373899105	byFrequency	TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AGTGCTTTCACAAAAAAAATCA	0.327													|||unknown(NO_COVERAGE)	1065	0.21266	0.0946	0.2709	5008	,	,		17244	0.0764		0.4026	False		,,,				2504	0.2761					ENST00000515683.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)																																					126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100261040_100261041insA	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100261048_100261048dupA								NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	1316	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	INS	ENST00000515683.1	37																																																																																						0.327	ADH1C-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000364877.2	NM_000669		4	4						4	4	---	---	---	---
PROSER2	254427	broad.mit.edu	37	10	11911789	11911789	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr10:11911789delG	ENST00000277570.5	+	4	846	c.692delG	c.(691-693)cggfs	p.R231fs	PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000379200.1_Frame_Shift_Del_p.R35fs|PROSER2-AS1_ENST00000453242.1_RNA	NM_153256.3	NP_694988.3	Q86WR7	PRSR2_HUMAN	proline and serine rich 2	231	Pro-rich.																CCTGCCGCCCGGGGGCCCCGC	0.736																																						ENST00000277570.5																			0											c.(691-693)cgfs		proline and serine-rich protein 2				21,3521		5,11,1755	3.0	4.0	4.0			-10.1	0.0	10		4	44,7050		10,24,3513	no	frameshift	C10orf47	NM_153256.3		15,35,5268	A1A1,A1R,RR		0.6202,0.5929,0.6111			11911789	65,10571	1932	3859	5791	SO:0001589	frameshift_variant	254427							g.chr10:11911789delG	BC017269	CCDS7085.1	10p14	2014-02-19	2014-02-19	2012-12-05	ENSG00000148426	ENSG00000148426			23728	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 47"", ""proline and serine-rich protein 2"""	C10orf47		12477932	Standard	NM_153256		Approved	MGC35403	uc001ikx.3	Q86WR7	OTTHUMG00000017673	ENST00000277570.5:c.692delG	10.37:g.11911789delG	ENSP00000277570:p.Arg231fs					PROSER2_ENST00000379200.1_Frame_Shift_Del_p.R35fs|PROSER2-AS1_ENST00000453242.1_RNA|PROSER2-AS1_ENST00000445498.1_RNA	p.R231fs	NM_153256.3	NP_694988.3					4	846	+								D3DRR8|Q5W0J9|Q5W0K0|Q5W0K1|Q5W0K2|Q6PJC8|Q8N317	Frame_Shift_Del	DEL	ENST00000277570.5	37	c.692delG	CCDS7085.1																																																																																				0.736	PROSER2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090189.2	NM_153256		2	4						2	4	---	---	---	---
RP11-377D9.3	0	broad.mit.edu	37	12	13174141	13174142	+	lincRNA	INS	-	-	AACAACAAC	rs112328257|rs200245346|rs71436744	byFrequency	TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr12:13174141_13174142insAACAACAAC	ENST00000543321.1	+	0	1025																											tctgtctcaaaaacaacaacaa	0.55																																						ENST00000543321.1																			0																																																			0							g.chr12:13174141_13174142insAACAACAAC																													12.37:g.13174142_13174150dupAACAACAAC														0	1025	+									RNA	INS	ENST00000543321.1	37																																																																																						0.550	RP11-377D9.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000401005.1			3	6						3	6	---	---	---	---
ADSSL1	122622	broad.mit.edu	37	14	105190771	105190771	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A80V-01A-12D-A35I-08	TCGA-WB-A80V-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	152e6802-b426-4015-93e1-23526d5250c5	8c1aa1d7-058f-4953-9448-d33817d21499	g.chr14:105190771delC	ENST00000330877.2	+	1	249	c.164delC	c.(163-165)acgfs	p.T55fs		NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1											central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		CTGCTGGCCACGGACGCCGAC	0.766																																						ENST00000330877.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11						c.(163-165)agfs		adenylosuccinate synthase like 1	L-Aspartic Acid(DB00128)						7.0	8.0	8.0					14																	105190771		2063	4117	6180	SO:0001589	frameshift_variant	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105190771delC	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.164delC	14.37:g.105190771delC	ENSP00000331260:p.Thr55fs						p.T55fs	NM_152328.3	NP_689541.1	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	1	249	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	55						Frame_Shift_Del	DEL	ENST00000330877.2	37	c.164delC	CCDS9990.1																																																																																				0.766	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			2	4						2	4	---	---	---	---
