#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
RUFY3	22902	broad.mit.edu	37	4	71634293	71634293	+	Missense_Mutation	SNP	A	A	G			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr4:71634293A>G	ENST00000226328.4	+	5	1174	c.611A>G	c.(610-612)gAa>gGa	p.E204G	RUFY3_ENST00000502653.1_Missense_Mutation_p.E151G|RUFY3_ENST00000381006.3_Missense_Mutation_p.E204G|RUFY3_ENST00000417478.2_Missense_Mutation_p.E264G|RUFY3_ENST00000536664.1_Missense_Mutation_p.E188G	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	204	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			ATGGAAGAAGAAGGAGCCATA	0.413																																						ENST00000226328.4																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(610-612)gAa>gGa		RUN and FYVE domain containing 3							187.0	178.0	181.0					4																	71634293		2203	4300	6503	SO:0001583	missense	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71634293A>G	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	ENST00000226328.4:c.611A>G	4.37:g.71634293A>G	ENSP00000226328:p.Glu204Gly					RUFY3_ENST00000502653.1_Missense_Mutation_p.E151G|RUFY3_ENST00000381006.3_Missense_Mutation_p.E204G|RUFY3_ENST00000536664.1_Missense_Mutation_p.E188G|RUFY3_ENST00000417478.2_Missense_Mutation_p.E264G	p.E204G	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		5	1174	+		all_hematologic(202;0.248)	204			RUN.		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	ENST00000226328.4	37	c.611A>G	CCDS3547.1	.	.	.	.	.	.	.	.	.	.	A	31	5.060374	0.93846	.	.	ENSG00000018189	ENST00000503876;ENST00000417478;ENST00000381006;ENST00000226328;ENST00000536664;ENST00000513597;ENST00000502653	T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41	5.29	5.29	0.74685	RUN (3);	0.000000	0.85682	D	0.000000	T	0.51075	0.1653	M	0.91717	3.235	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;1.0	T	0.63382	-0.6650	10	0.87932	D	0	-22.2098	15.2276	0.73361	1.0:0.0:0.0:0.0	.	188;204;204;264	B4DKC2;Q7L099-3;Q7L099;Q7L099-2	.;.;RUFY3_HUMAN;.	G	140;264;204;204;188;140;151	ENSP00000426734:E140G;ENSP00000399771:E264G;ENSP00000370394:E204G;ENSP00000226328:E204G;ENSP00000443652:E188G;ENSP00000425574:E140G;ENSP00000425400:E151G	ENSP00000226328:E204G	E	+	2	0	RUFY3	71853157	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.142000	0.94618	2.007000	0.58848	0.455000	0.32223	GAA		0.413	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	NM_014961		51	67	0	0	0	1	0	51	67				
TBC1D10B	26000	broad.mit.edu	37	16	30369824	30369824	+	Missense_Mutation	SNP	T	T	C			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr16:30369824T>C	ENST00000409939.3	-	9	1948	c.1868A>G	c.(1867-1869)gAa>gGa	p.E623G	RP11-347C12.10_ENST00000563252.1_lincRNA	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	623					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			CCCCCGCGTTTCCCGCCACTT	0.647																																						ENST00000409939.3																			0				endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6						c.(1867-1869)gAa>gGa		TBC1 domain family, member 10B							24.0	24.0	24.0					16																	30369824		2197	4298	6495	SO:0001583	missense	26000					cytoplasm	Rab GTPase activator activity	g.chr16:30369824T>C	BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.1868A>G	16.37:g.30369824T>C	ENSP00000386538:p.Glu623Gly						p.E623G	NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	Colorectal(24;0.193)		9	1948	-			623					B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Missense_Mutation	SNP	ENST00000409939.3	37	c.1868A>G	CCDS10676.2	.	.	.	.	.	.	.	.	.	.	T	23.2	4.387904	0.82902	.	.	ENSG00000169221	ENST00000409939	D	0.97161	-4.27	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.97259	0.9104	M	0.65498	2.005	0.58432	D	0.999993	D	0.53312	0.959	P	0.55011	0.766	D	0.97677	1.0170	10	0.87932	D	0	.	13.4141	0.60958	0.0:0.0:0.0:1.0	.	623	Q4KMP7	TB10B_HUMAN	G	623	ENSP00000386538:E623G	ENSP00000386538:E623G	E	-	2	0	TBC1D10B	30277325	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.781000	0.85668	2.067000	0.61834	0.402000	0.26972	GAA		0.647	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255527.3	NM_015527		8	2	0	0	0	1	0	8	2				
EYS	346007	broad.mit.edu	37	6	66204999	66204999	+	Missense_Mutation	SNP	T	T	A			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr6:66204999T>A	ENST00000370621.3	-	4	831	c.305A>T	c.(304-306)aAt>aTt	p.N102I	EYS_ENST00000370618.3_Missense_Mutation_p.N102I|EYS_ENST00000342421.5_Missense_Mutation_p.N102I|EYS_ENST00000503581.1_Missense_Mutation_p.N102I|EYS_ENST00000393380.2_Missense_Mutation_p.N102I|EYS_ENST00000370616.2_Missense_Mutation_p.N102I			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	102					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTCATCAAATTTATTTCTGG	0.378																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(304-306)aAt>aTt		eyes shut homolog (Drosophila)							69.0	71.0	70.0					6																	66204999		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66204999T>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.305A>T	6.37:g.66204999T>A	ENSP00000359655:p.Asn102Ile					EYS_ENST00000393380.2_Missense_Mutation_p.N102I|EYS_ENST00000370616.2_Missense_Mutation_p.N102I|EYS_ENST00000370621.3_Missense_Mutation_p.N102I|EYS_ENST00000342421.5_Missense_Mutation_p.N102I|EYS_ENST00000370618.3_Missense_Mutation_p.N102I	p.N102I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			4	842	-			102					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.305A>T		.	.	.	.	.	.	.	.	.	.	T	17.22	3.333226	0.60853	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.90324	-1.66;-1.65;-1.65;-2.65;-2.61;-2.61	4.4	4.4	0.53042	.	.	.	.	.	D	0.86079	0.5847	N	0.19112	0.55	0.22171	N	0.999314	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.70935	0.962;0.971;0.936	T	0.79176	-0.1911	9	0.34782	T	0.22	.	11.3055	0.49332	0.0:0.0:0.0:1.0	.	102;102;102	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	I	102	ENSP00000424243:N102I;ENSP00000359655:N102I;ENSP00000359650:N102I;ENSP00000377042:N102I;ENSP00000341818:N102I;ENSP00000359652:N102I	ENSP00000341818:N102I	N	-	2	0	EYS	66261720	0.998000	0.40836	0.994000	0.49952	0.935000	0.57460	3.147000	0.50639	1.735000	0.51646	0.482000	0.46254	AAT		0.378	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		8	51	0	0	0	1	0	8	51				
RALGAPB	57148	broad.mit.edu	37	20	37179720	37179720	+	Missense_Mutation	SNP	G	G	A			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr20:37179720G>A	ENST00000262879.6	+	21	3300	c.3016G>A	c.(3016-3018)Gta>Ata	p.V1006I	RALGAPB_ENST00000397042.3_Missense_Mutation_p.V1002I|RALGAPB_ENST00000397040.1_Missense_Mutation_p.V1006I|RALGAPB_ENST00000397038.1_Missense_Mutation_p.V784I			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1006					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACAGCTTTTTGTACCTGAACC	0.388																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(3016-3018)Gta>Ata		Ral GTPase activating protein, beta subunit (non-catalytic)							156.0	143.0	147.0					20																	37179720		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37179720G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3016G>A	20.37:g.37179720G>A	ENSP00000262879:p.Val1006Ile					RALGAPB_ENST00000397040.1_Missense_Mutation_p.V1006I|RALGAPB_ENST00000397042.3_Missense_Mutation_p.V1002I|RALGAPB_ENST00000397038.1_Missense_Mutation_p.V784I	p.V1006I			Q86X10	RLGPB_HUMAN			21	3300	+			1006					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.3016G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422379	0.43020	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	6.03	5.03	0.67393	.	0.114674	0.64402	D	0.000015	T	0.37348	0.1000	N	0.16478	0.41	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.17806	-1.0357	9	0.17832	T	0.49	.	10.2025	0.43094	0.0701:0.1372:0.7926:0.0	.	1002;1006	A2A2E9;Q86X10	.;RLGPB_HUMAN	I	1006;1002;784;1006;834	.	ENSP00000262879:V1006I	V	+	1	0	RALGAPB	36613134	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.021000	0.57196	2.868000	0.98415	0.557000	0.71058	GTA		0.388	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		5	153	0	0	0	1	0	5	153				
ZBTB47	92999	broad.mit.edu	37	3	42703080	42703080	+	Missense_Mutation	SNP	A	A	G			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr3:42703080A>G	ENST00000232974.6	+	3	1858	c.1577A>G	c.(1576-1578)gAg>gGg	p.E526G	ZBTB47_ENST00000457842.3_Missense_Mutation_p.E150G|ZBTB47_ENST00000505904.1_Missense_Mutation_p.E72G			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GAGATCTGTGAGAAGAAGTTC	0.517																																						ENST00000457842.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13						c.(448-450)gAg>gGg		zinc finger and BTB domain containing 47							71.0	70.0	70.0					3																	42703080		2002	4191	6193	SO:0001583	missense	92999				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42703080A>G	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26955	protein-coding gene	gene with protein product			"""zinc finger protein 651"""	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1577A>G	3.37:g.42703080A>G	ENSP00000232974:p.Glu526Gly					ZBTB47_ENST00000232974.6_Missense_Mutation_p.E526G|ZBTB47_ENST00000505904.1_Missense_Mutation_p.E72G	p.E150G	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.216)	3	1858	+			150					H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Missense_Mutation	SNP	ENST00000232974.6	37	c.449A>G	CCDS46805.2	.	.	.	.	.	.	.	.	.	.	A	13.78	2.339701	0.41398	.	.	ENSG00000114853	ENST00000232974;ENST00000542870;ENST00000457842;ENST00000505904	T;T;T	0.08008	3.14;3.14;3.14	4.84	3.68	0.42216	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.02193	0.0068	N	0.00864	-1.135	0.53005	D	0.999962	B	0.21071	0.051	B	0.21360	0.034	T	0.40590	-0.9555	10	0.02654	T	1	-38.2771	10.2645	0.43447	0.9213:0.0:0.0787:0.0	.	150	Q9UFB7	ZBT47_HUMAN	G	526;425;150;72	ENSP00000232974:E526G;ENSP00000411491:E150G;ENSP00000420968:E72G	ENSP00000232974:E526G	E	+	2	0	ZBTB47	42678084	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.501000	0.81600	0.701000	0.31803	0.459000	0.35465	GAG		0.517	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	NM_145166		3	31	0	0	0	1	0	3	31				
PPP1R14D	54866	broad.mit.edu	37	15	41120792	41120792	+	Silent	SNP	C	C	A			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr15:41120792C>A	ENST00000299174.5	-	1	115	c.48G>T	c.(46-48)ggG>ggT	p.G16G	PPP1R14D_ENST00000427255.2_Silent_p.G16G	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	16					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ATGGGTTCTCCCCATCTGGGC	0.557																																						ENST00000299174.5																			0				breast(1)|large_intestine(2)|lung(2)|skin(1)	6						c.(46-48)ggG>ggT		protein phosphatase 1, regulatory (inhibitor) subunit 14D							102.0	88.0	93.0					15																	41120792		2203	4300	6503	SO:0001819	synonymous_variant	54866				regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity	g.chr15:41120792C>A	AK000258	CCDS10066.1, CCDS45230.1	15q11.2-q14	2012-04-17			ENSG00000166143	ENSG00000166143		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14953	protein-coding gene	gene with protein product	"""gut and brain phosphatase inhibitor 1"", ""PKC-dependent PP1 inhibitory protein"""	613256				11948623	Standard	NM_017726		Approved	CPI17-like, FLJ20251, GBPI-1, MGC119014, MGC119016	uc001zmz.3	Q9NXH3	OTTHUMG00000130064	ENST00000299174.5:c.48G>T	15.37:g.41120792C>A						PPP1R14D_ENST00000427255.2_Silent_p.G16G	p.G16G	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	1	115	-		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	16					Q4V773	Silent	SNP	ENST00000299174.5	37	c.48G>T	CCDS10066.1																																																																																				0.557	PPP1R14D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252355.2	NM_017726		9	34	1	0	1.76689e-08	1	1.82044e-08	9	34				
ZNF80	7634	broad.mit.edu	37	3	113955352	113955352	+	Silent	SNP	C	C	T			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr3:113955352C>T	ENST00000482457.2	-	1	1073	c.570G>A	c.(568-570)aaG>aaA	p.K190K	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				ACTCACTGCACTTGCAGGGCT	0.478																																					GBM(23;986 1114 21716)	ENST00000482457.2																			0				NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32						c.(568-570)aaG>aaA		zinc finger protein 80							115.0	120.0	118.0					3																	113955352		2203	4300	6503	SO:0001819	synonymous_variant	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955352C>T	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.570G>A	3.37:g.113955352C>T							p.K190K	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN			1	1073	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	190					Q6NSW4|Q6NT14	Silent	SNP	ENST00000482457.2	37	c.570G>A	CCDS2979.1																																																																																				0.478	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		47	75	0	0	0	1	0	47	75				
FAM49A	81553	broad.mit.edu	37	2	16734239	16734239	+	Missense_Mutation	SNP	A	A	G			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr2:16734239A>G	ENST00000381323.3	-	12	1157	c.937T>C	c.(937-939)Tca>Cca	p.S313P	FAM49A_ENST00000406434.1_Missense_Mutation_p.S313P|FAM49A_ENST00000355549.2_Missense_Mutation_p.S313P	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	313						intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TTGGAAGTTGATTCATCGTTC	0.418																																						ENST00000381323.3																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23						c.(937-939)Tca>Cca		family with sequence similarity 49, member A							226.0	198.0	208.0					2																	16734239		2203	4300	6503	SO:0001583	missense	81553					intracellular		g.chr2:16734239A>G	AK001942	CCDS1688.1	2p24.3	2008-02-05			ENSG00000197872	ENSG00000197872			25373	protein-coding gene	gene with protein product							Standard	NM_030797		Approved	DKFZP566A1524, FLJ11080	uc002rck.2	Q9H0Q0	OTTHUMG00000090615	ENST00000381323.3:c.937T>C	2.37:g.16734239A>G	ENSP00000370724:p.Ser313Pro					FAM49A_ENST00000406434.1_Missense_Mutation_p.S313P|FAM49A_ENST00000355549.2_Missense_Mutation_p.S313P	p.S313P	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)		12	1157	-	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		313					B3KNZ1|Q53QW2	Missense_Mutation	SNP	ENST00000381323.3	37	c.937T>C	CCDS1688.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.544072	0.86022	.	.	ENSG00000197872	ENST00000381323;ENST00000406434;ENST00000355549	T;T;T	0.46819	0.86;0.86;0.86	5.66	4.48	0.54585	.	0.052589	0.85682	D	0.000000	T	0.65780	0.2724	M	0.77103	2.36	0.80722	D	1	P	0.50943	0.94	D	0.63192	0.912	T	0.68689	-0.5342	10	0.72032	D	0.01	-6.0669	11.4965	0.50410	0.8655:0.0:0.0:0.1345	.	313	Q9H0Q0	FA49A_HUMAN	P	313	ENSP00000370724:S313P;ENSP00000384771:S313P;ENSP00000347744:S313P	ENSP00000347744:S313P	S	-	1	0	FAM49A	16597720	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	3.343000	0.52167	1.049000	0.40321	0.533000	0.62120	TCA		0.418	FAM49A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207203.2	NM_030797		31	34	0	0	0	1	0	31	34				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	42	0	0	0	1	0	3	42				
AKAP9	10142	broad.mit.edu	37	7	91715671	91715671	+	Missense_Mutation	SNP	C	C	G			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr7:91715671C>G	ENST00000359028.2	+	37	9391	c.9166C>G	c.(9166-9168)Cta>Gta	p.L3056V	AKAP9_ENST00000358100.2_Missense_Mutation_p.L3002V|AKAP9_ENST00000356239.3_Missense_Mutation_p.L3052V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3056					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCTGACAGCTCTAGGTACTAC	0.388			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(9166-9168)Cta>Gta		A kinase (PRKA) anchor protein 9							205.0	202.0	203.0					7																	91715671		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91715671C>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9166C>G	7.37:g.91715671C>G	ENSP00000351922:p.Leu3056Val					AKAP9_ENST00000356239.3_Missense_Mutation_p.L3052V|AKAP9_ENST00000358100.2_Missense_Mutation_p.L3002V	p.L3056V			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		37	9391	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		3056					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.9166C>G		.	.	.	.	.	.	.	.	.	.	C	13.75	2.330770	0.41297	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.04119	3.8;3.79;3.87;3.7	4.89	4.0	0.46444	.	0.000000	0.31427	N	0.007675	T	0.11623	0.0283	M	0.77616	2.38	0.41032	D	0.985167	D;P;P;P;P	0.57571	0.98;0.944;0.908;0.944;0.944	P;P;B;P;P	0.52514	0.701;0.572;0.368;0.572;0.572	T	0.04454	-1.0950	10	0.33940	T	0.23	.	6.9819	0.24708	0.1274:0.676:0.1238:0.0727	.	3056;3056;3056;3052;3044	F5H3X5;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	V	3052;3056;3002;3056;898	ENSP00000348573:L3052V;ENSP00000351922:L3056V;ENSP00000350813:L3002V;ENSP00000378042:L898V	ENSP00000348573:L3052V	L	+	1	2	AKAP9	91553607	0.994000	0.37717	0.996000	0.52242	0.971000	0.66376	0.818000	0.27295	1.390000	0.46547	0.585000	0.79938	CTA		0.388	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		8	195	0	0	0	1	0	8	195				
B4GALNT4	338707	broad.mit.edu	37	11	375706	375706	+	Silent	SNP	G	G	C			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr11:375706G>C	ENST00000329962.6	+	10	918	c.918G>C	c.(916-918)ggG>ggC	p.G306G		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	306					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGTGGGGGGGCGTCCGCCGC	0.677																																						ENST00000329962.6																			0				endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24						c.(916-918)ggG>ggC		beta-1,4-N-acetyl-galactosaminyl transferase 4							24.0	28.0	26.0					11																	375706		2176	4275	6451	SO:0001819	synonymous_variant	338707					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr11:375706G>C	AB089939	CCDS7694.1	11p15.5	2013-02-19			ENSG00000182272	ENSG00000182272	2.4.1.-	"""Beta 4-glycosyltransferases"""	26315	protein-coding gene	gene with protein product						15044014	Standard	NM_178537		Approved	FLJ25045, NGalNAc-T1	uc001lpb.3	Q76KP1	OTTHUMG00000119075	ENST00000329962.6:c.918G>C	11.37:g.375706G>C							p.G306G	NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	10	918	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	306					Q96LV2	Silent	SNP	ENST00000329962.6	37	c.918G>C	CCDS7694.1																																																																																				0.677	B4GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239289.2	NM_178537		6	27	0	0	0	1	0	6	27				
MINK1	50488	broad.mit.edu	37	17	4788820	4788820	+	Missense_Mutation	SNP	G	G	A			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr17:4788820G>A	ENST00000355280.6	+	7	747	c.551G>A	c.(550-552)aGa>aAa	p.R184K	MINK1_ENST00000453408.3_Missense_Mutation_p.R184K|MINK1_ENST00000347992.7_Missense_Mutation_p.R184K|RN7SL784P_ENST00000577319.1_RNA	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACCGTGGGCAGACGGAACACT	0.567																																						ENST00000355280.6																			0				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						c.(550-552)aGa>aAa		misshapen-like kinase 1							109.0	115.0	113.0					17																	4788820		2109	4217	6326	SO:0001583	missense	50488				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr17:4788820G>A	AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.551G>A	17.37:g.4788820G>A	ENSP00000347427:p.Arg184Lys					MINK1_ENST00000453408.3_Missense_Mutation_p.R184K|MINK1_ENST00000347992.7_Missense_Mutation_p.R184K	p.R184K	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN			7	747	+			184			Protein kinase.			Missense_Mutation	SNP	ENST00000355280.6	37	c.551G>A	CCDS45588.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873889	0.91664	.	.	ENSG00000141503	ENST00000355280;ENST00000453408;ENST00000347992	T;T;T	0.64438	-0.1;-0.1;-0.1	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	N	0.02751	-0.505	0.80722	D	1	P;P;P;P	0.42010	0.726;0.726;0.768;0.726	B;B;P;B	0.44860	0.332;0.332;0.462;0.332	T	0.60182	-0.7313	10	0.87932	D	0	.	17.0271	0.86450	0.0:0.0:1.0:0.0	.	184;184;184;184	Q8N4C8-2;Q8N4C8-4;Q8N4C8;Q8N4C8-3	.;.;MINK1_HUMAN;.	K	184	ENSP00000347427:R184K;ENSP00000406487:R184K;ENSP00000269296:R184K	ENSP00000269296:R184K	R	+	2	0	MINK1	4729603	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	9.657000	0.98554	2.884000	0.98904	0.655000	0.94253	AGA		0.567	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439801.1	NM_015716		29	58	0	0	0	1	0	29	58				
ADAMTS10	81794	broad.mit.edu	37	19	8654799	8654799	+	Missense_Mutation	SNP	A	A	T			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr19:8654799A>T	ENST00000597188.1	-	16	2144	c.1874T>A	c.(1873-1875)tTc>tAc	p.F625Y	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.S116T|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.F625Y	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	625	Cys-rich.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCACTTGTAGAATTTCCCACG	0.577																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(1873-1875)tTc>tAc		ADAM metallopeptidase with thrombospondin type 1 motif, 10							72.0	65.0	67.0					19																	8654799		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8654799A>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1874T>A	19.37:g.8654799A>T	ENSP00000471851:p.Phe625Tyr					ADAMTS10_ENST00000597188.1_Missense_Mutation_p.F625Y|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.S116T	p.F625Y			Q9H324	ATS10_HUMAN			15	2140	-			625			Cys-rich.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.1874T>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	A	4.311	0.057109	0.08339	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.05786	3.39	4.73	3.67	0.42095	.	0.153280	0.45606	U	0.000351	T	0.01976	0.0062	N	0.02412	-0.56	0.38436	D	0.946564	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37572	-0.9700	10	0.02654	T	1	.	7.1517	0.25614	0.5662:0.0:0.0:0.4338	.	379;625	Q59FE5;Q9H324	.;ATS10_HUMAN	Y	625;379	ENSP00000270328:F625Y	ENSP00000270328:F625Y	F	-	2	0	ADAMTS10	8560799	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	3.873000	0.56093	1.746000	0.51805	0.482000	0.46254	TTC		0.577	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		31	33	0	0	0	1	0	31	33				
MCPH1	79648	broad.mit.edu	37	8	6264189	6264189	+	Start_Codon_SNP	SNP	A	A	G			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr8:6264189A>G	ENST00000344683.5	+	1	77	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RP11-115C21.2_ENST00000500118.2_RNA|MCPH1_ENST00000522905.1_Start_Codon_SNP_p.M1V|RP11-115C21.2_ENST00000523225.1_RNA|MCPH1_ENST00000519480.1_Start_Codon_SNP_p.M1V|RP11-115C21.2_ENST00000606853.1_RNA	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	1	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GCCGTCTGTCATGGCGGCCCC	0.726																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(1-3)Atg>Gtg		microcephalin 1							18.0	24.0	22.0					8																	6264189		1865	4099	5964	SO:0001582	initiator_codon_variant	79648					microtubule organizing center		g.chr8:6264189A>G	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1A>G	8.37:g.6264189A>G	ENSP00000342924:p.Met1Val					MCPH1_ENST00000522905.1_Start_Codon_SNP_p.M1V|MCPH1_ENST00000519480.1_Start_Codon_SNP_p.M1V|RP11-115C21.2_ENST00000523225.1_RNA	p.M1V	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	1	77	+		Hepatocellular(245;0.0663)	1			BRCT 1.		B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Translation_Start_Site	SNP	ENST00000344683.5	37	c.1A>G	CCDS43689.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.974086	0.34848	.	.	ENSG00000147316	ENST00000344683;ENST00000519480;ENST00000522905	T;T;T	0.05319	3.83;3.46;3.48	1.22	1.22	0.21188	BRCT (1);	1.777740	0.03880	N	0.277012	T	0.06917	0.0176	.	.	.	0.80722	D	1	P;B;P	0.43392	0.805;0.001;0.458	P;B;B	0.45506	0.483;0.001;0.292	T	0.51482	-0.8700	9	0.18276	T	0.48	-1.8172	4.6018	0.12357	1.0:0.0:0.0:0.0	.	1;1;1	E9PH63;Q8NEM0;E9PGU5	.;MCPH1_HUMAN;.	V	1	ENSP00000342924:M1V;ENSP00000430962:M1V;ENSP00000430768:M1V	ENSP00000342924:M1V	M	+	1	0	MCPH1	6251597	0.643000	0.27269	0.599000	0.28851	0.113000	0.19764	2.142000	0.42177	0.814000	0.34374	0.383000	0.25322	ATG		0.726	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596	Missense_Mutation	3	3	0	0	0	1	0	3	3				
RBM38	55544	broad.mit.edu	37	20	55982660	55982660	+	Missense_Mutation	SNP	G	G	A			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr20:55982660G>A	ENST00000356208.5	+	4	653	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	RBM38_ENST00000440234.2_3'UTR|RBM38_ENST00000371219.2_Missense_Mutation_p.A79T	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	160					3'-UTR-mediated mRNA stabilization (GO:0070935)|cell cycle (GO:0007049)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|regulation of myotube differentiation (GO:0010830)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			GATCCCAGCCGCCCCTGTCCC	0.662																																						ENST00000356208.5																			0				large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(478-480)Gcc>Acc		RNA binding motif protein 38							32.0	42.0	39.0					20																	55982660		2163	4256	6419	SO:0001583	missense	55544				3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding	g.chr20:55982660G>A	X75314	CCDS46617.1, CCDS46618.1	20q13.31	2013-02-12	2006-07-11	2006-07-11	ENSG00000132819	ENSG00000132819		"""RNA binding motif (RRM) containing"""	15818	protein-coding gene	gene with protein product		612428	"""RNA-binding region (RNP1, RRM) containing 1"""	RNPC1			Standard	NM_017495		Approved	HSRNASEB, SEB4D, seb4B, dJ800J21.2	uc010zzj.2	Q9H0Z9	OTTHUMG00000032820	ENST00000356208.5:c.478G>A	20.37:g.55982660G>A	ENSP00000348538:p.Ala160Thr					RBM38_ENST00000371219.2_Missense_Mutation_p.A79T|RBM38_ENST00000440234.2_3'UTR	p.A160T	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)		4	653	+	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		160					A6NDK1|A6NMU6|Q15350|Q15351|Q9BYK3|Q9BYK4	Missense_Mutation	SNP	ENST00000356208.5	37	c.478G>A	CCDS46617.1	.	.	.	.	.	.	.	.	.	.	G	4.922	0.171288	0.09391	.	.	ENSG00000132819	ENST00000356208;ENST00000371219	T;T	0.19250	2.56;2.16	4.55	0.757	0.18427	.	0.193349	0.45867	N	0.000332	T	0.05960	0.0155	N	0.01874	-0.695	0.30029	N	0.813679	B	0.02656	0.0	B	0.01281	0.0	T	0.36504	-0.9745	10	0.12103	T	0.63	-4.6418	7.1131	0.25401	0.6394:0.0:0.3606:0.0	.	160	Q9H0Z9	RBM38_HUMAN	T	160;79	ENSP00000348538:A160T;ENSP00000360263:A79T	ENSP00000348538:A160T	A	+	1	0	RBM38	55416066	0.491000	0.26019	0.468000	0.27192	0.150000	0.21749	0.898000	0.28404	0.237000	0.21200	0.462000	0.41574	GCC		0.662	RBM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079843.4	NM_183425		3	32	0	0	0	1	0	3	32				
KRT72	140807	broad.mit.edu	37	12	52981542	52981542	+	Missense_Mutation	SNP	C	C	T	rs145882334	byFrequency	TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr12:52981542C>T	ENST00000537672.2	-	7	1193	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	KRT72_ENST00000293745.2_Missense_Mutation_p.A395T|KRT72_ENST00000398066.3_Missense_Mutation_p.A207T|KRT72_ENST00000354310.4_Missense_Mutation_p.A353T	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	395	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGGTGCAGGGCGCCCTCCAGC	0.662																																						ENST00000293745.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36						c.(1183-1185)Gcc>Acc		keratin 72		C	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	80.0	74.0	76.0		1183,1057,1183	4.0	0.8	12	dbSNP_134	76	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	KRT72	NM_001146225.1,NM_001146226.1,NM_080747.2	58,58,58	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging,possibly-damaging,possibly-damaging	395/512,353/470,395/512	52981542	3,13003	2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52981542C>T	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1183G>A	12.37:g.52981542C>T	ENSP00000441160:p.Ala395Thr					KRT72_ENST00000537672.2_Missense_Mutation_p.A395T|KRT72_ENST00000354310.4_Missense_Mutation_p.A353T|KRT72_ENST00000398066.3_Missense_Mutation_p.A207T	p.A395T	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	7	1268	-			395			Coil 2.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.1183G>A	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038220	0.93630	2.27E-4	2.33E-4	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;D	0.89343	-2.44;-2.44;-2.5;-2.44	4.92	4.03	0.46877	Filament (1);	0.122636	0.36167	N	0.002757	D	0.95796	0.8632	H	0.96518	3.835	0.41093	D	0.985613	D;D	0.76494	0.999;0.999	D;D	0.65684	0.937;0.937	D	0.97169	0.9843	10	0.87932	D	0	.	14.1097	0.65113	0.0:0.926:0.0:0.074	.	353;395	B4DEI8;Q14CN4	.;K2C72_HUMAN	T	395;395;353;207	ENSP00000441160:A395T;ENSP00000293745:A395T;ENSP00000346269:A353T;ENSP00000446151:A207T	ENSP00000293745:A395T	A	-	1	0	KRT72	51267809	1.000000	0.71417	0.790000	0.31976	0.992000	0.81027	4.890000	0.63178	1.383000	0.46405	0.650000	0.86243	GCC		0.662	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		37	50	0	0	0	1	0	37	50				
EMC9	51016	broad.mit.edu	37	14	24610468	24610468	+	Silent	SNP	G	G	A			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr14:24610468G>A	ENST00000419198.2	-	1	326	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	EMC9_ENST00000560403.1_Intron|PSME2_ENST00000471700.2_5'Flank|EMC9_ENST00000558200.1_5'UTR|EMC9_ENST00000216799.4_Silent_p.L16L|RP11-468E2.5_ENST00000558478.1_lincRNA			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	16						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)											GCAGCATGCAGGCACATCTTC	0.647											OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000419198.2																			0											c.(46-48)Ctg>Ttg		ER membrane protein complex subunit 9							88.0	86.0	86.0					14																	24610468		2203	4300	6503	SO:0001819	synonymous_variant	51016							g.chr14:24610468G>A	BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 122"", ""family with sequence similarity 158, member A"""	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.46C>T	14.37:g.24610468G>A			OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	772	EMC9_ENST00000560403.1_Intron|EMC9_ENST00000558200.1_5'UTR|EMC9_ENST00000216799.4_Silent_p.L16L	p.L16L							1	326	-								D3DS60|Q9BUM3	Silent	SNP	ENST00000419198.2	37	c.46C>T	CCDS9613.1																																																																																				0.647	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071917.4	NM_016049		20	40	0	0	0	1	0	20	40				
ZFP41	286128	broad.mit.edu	37	8	144332586	144332586	+	Silent	SNP	A	A	G			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr8:144332586A>G	ENST00000330701.4	+	2	942	c.573A>G	c.(571-573)aaA>aaG	p.K191K	ZFP41_ENST00000520584.1_Silent_p.K191K|ZFP41_ENST00000522452.1_Silent_p.K191K	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	191					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCCATCAGAAACGCCACCCTC	0.642																																						ENST00000330701.4																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(571-573)aaA>aaG		ZFP41 zinc finger protein							57.0	67.0	64.0					8																	144332586		2199	4298	6497	SO:0001819	synonymous_variant	286128				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144332586A>G		CCDS6397.1	8q24.3	2013-01-08	2012-11-27		ENSG00000181638	ENSG00000181638		"""Zinc fingers, C2H2-type"""	26786	protein-coding gene	gene with protein product			"""zinc finger protein 41 homolog (mouse)"""			11214971	Standard	NM_173832		Approved	FLJ38705, FLJ00028, ZNF753	uc003yxw.4	Q8N8Y5	OTTHUMG00000164951	ENST00000330701.4:c.573A>G	8.37:g.144332586A>G						ZFP41_ENST00000522452.1_Silent_p.K191K|ZFP41_ENST00000520584.1_Silent_p.K191K	p.K191K	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		2	942	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		191					D3DWJ5	Silent	SNP	ENST00000330701.4	37	c.573A>G	CCDS6397.1																																																																																				0.642	ZFP41-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381114.2	NM_173832		12	75	0	0	0	1	0	12	75				
GUSBP1	728411	broad.mit.edu	37	5	21497235	21497235	+	RNA	SNP	C	C	T			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr5:21497235C>T	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										AGTTTGAGAACTGGTGTAAGA	0.488																																						ENST00000607545.1																			0																																																			728411							g.chr5:21497235C>T	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21497235C>T								NR_027026.1						0	179	+								A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	ENST00000607545.1	37																																																																																						0.488	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324		3	49	0	0	0	1	0	3	49				
CCDC64B	146439	broad.mit.edu	37	16	3085362	3085362	+	Missense_Mutation	SNP	C	C	G			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr16:3085362C>G	ENST00000572449.1	-	2	198	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000389347.4_Missense_Mutation_p.E46Q|CCDC64B_ENST00000573514.1_5'Flank			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	46										breast(1)|endometrium(2)|large_intestine(1)	4						TCCTCGGGCTCCTCAGGCCCT	0.662																																						ENST00000572449.1																			0				breast(1)|endometrium(2)|large_intestine(1)	4						c.(136-138)Gag>Cag		coiled-coil domain containing 64B							11.0	13.0	13.0					16																	3085362		1892	4102	5994	SO:0001583	missense	146439							g.chr16:3085362C>G	BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.136G>C	16.37:g.3085362C>G	ENSP00000459043:p.Glu46Gln					RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000389347.4_Missense_Mutation_p.E46Q	p.E46Q			A1A5D9	BICR2_HUMAN			2	198	-			46					Q658L9	Missense_Mutation	SNP	ENST00000572449.1	37	c.136G>C	CCDS45393.1	.	.	.	.	.	.	.	.	.	.	c	11.10	1.540795	0.27563	.	.	ENSG00000162069	ENST00000389347	T	0.31247	1.5	5.08	5.08	0.68730	.	0.302831	0.30311	N	0.009909	T	0.29817	0.0745	L	0.29908	0.895	0.09310	N	1	D	0.54207	0.965	P	0.47981	0.563	T	0.12760	-1.0535	10	0.27082	T	0.32	-20.1274	15.9724	0.80031	0.0:1.0:0.0:0.0	.	46	A1A5D9	BICR2_HUMAN	Q	46	ENSP00000373998:E46Q	ENSP00000373998:E46Q	E	-	1	0	CCDC64B	3025363	0.089000	0.21612	0.685000	0.30070	0.520000	0.34377	2.376000	0.44292	2.361000	0.80049	0.457000	0.33378	GAG		0.662	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1			6	3	0	0	0	1	0	6	3				
ACSM2B	348158	broad.mit.edu	37	16	20565160	20565160	+	Missense_Mutation	SNP	G	G	A	rs374276624		TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr16:20565160G>A	ENST00000329697.6	-	5	847	c.679C>T	c.(679-681)Ctt>Ttt	p.L227F	ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000567001.1_Missense_Mutation_p.L227F|ACSM2B_ENST00000565232.1_Missense_Mutation_p.L227F|ACSM2B_ENST00000565322.1_Missense_Mutation_p.L148F	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	227					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATCTTGGGAAGACCACTGGTC	0.512																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(679-681)Ctt>Ttt		acyl-CoA synthetase medium-chain family member 2B		G	PHE/LEU,PHE/LEU	0,4400		0,0,2200	95.0	87.0	90.0		679,679	2.3	0.2	16		90	3,8559	3.0+/-9.4	0,3,4278	no	missense,missense	ACSM2B	NM_001105069.1,NM_182617.3	22,22	0,3,6478	AA,AG,GG		0.035,0.0,0.0231	benign,benign	227/578,227/578	20565160	3,12959	2200	4281	6481	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20565160G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.679C>T	16.37:g.20565160G>A	ENSP00000327453:p.Leu227Phe					ACSM2B_ENST00000567001.1_Missense_Mutation_p.L227F|ACSM2B_ENST00000565232.1_Missense_Mutation_p.L227F|ACSM2B_ENST00000565322.1_Missense_Mutation_p.L148F	p.L227F	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			5	847	-			227					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.679C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.728476	0.00694	0.0	3.5E-4	ENSG00000066813	ENST00000329697	T	0.44881	0.91	3.36	2.28	0.28536	AMP-dependent synthetase/ligase (1);AMP-binding, conserved site (1);	0.988822	0.08210	N	0.980877	T	0.33177	0.0854	L	0.53249	1.67	0.20703	N	0.999861	B;B	0.15930	0.015;0.015	B;B	0.17098	0.017;0.017	T	0.35847	-0.9772	10	0.10111	T	0.7	-0.0158	5.5407	0.17036	0.0:0.2177:0.5587:0.2236	.	227;227	A8K051;Q68CK6	.;ACS2B_HUMAN	F	227	ENSP00000327453:L227F	ENSP00000327453:L227F	L	-	1	0	ACSM2B	20472661	0.001000	0.12720	0.197000	0.23402	0.153000	0.21895	0.773000	0.26661	1.878000	0.54408	0.609000	0.83330	CTT		0.512	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		11	27	0	0	0	1	0	11	27				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			96610							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			9	2	0	0	0	1	0	9	2				
TUBGCP6	85378	broad.mit.edu	37	22	50657281	50657281	+	Missense_Mutation	SNP	G	G	T			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr22:50657281G>T	ENST00000248846.5	-	21	4776	c.4672C>A	c.(4672-4674)Ctg>Atg	p.L1558M	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1558					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACAGAGTTCAGCACCAGCGGG	0.637																																						ENST00000248846.5																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(4672-4674)Ctg>Atg		tubulin, gamma complex associated protein 6							64.0	63.0	63.0					22																	50657281		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50657281G>T	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4672C>A	22.37:g.50657281G>T	ENSP00000248846:p.Leu1558Met					TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR	p.L1558M			Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	21	4776	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1558					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.4672C>A	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.566330	0.45694	.	.	ENSG00000128159	ENST00000248846;ENST00000425018	T;T	0.11604	2.76;2.76	4.63	3.6	0.41247	.	0.139198	0.47093	D	0.000260	T	0.25568	0.0622	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.97110	1.0;0.991;0.985	T	0.00763	-1.1576	10	0.49607	T	0.09	.	12.8342	0.57763	0.0815:0.0:0.9185:0.0	.	1550;1558;1558	B2RWN4;Q96RT7;Q96RT7-3	.;GCP6_HUMAN;.	M	1558;244	ENSP00000248846:L1558M;ENSP00000405979:L244M	ENSP00000248846:L1558M	L	-	1	2	TUBGCP6	48999408	1.000000	0.71417	0.359000	0.25824	0.162000	0.22319	5.066000	0.64351	1.153000	0.42468	0.591000	0.81541	CTG		0.637	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		15	7	1	0	9.7654e-05	1	9.7654e-05	15	7				
INSRR	3645	broad.mit.edu	37	1	156816315	156816315	+	Silent	SNP	A	A	T			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr1:156816315A>T	ENST00000368195.3	-	8	2202	c.1806T>A	c.(1804-1806)ccT>ccA	p.P602P	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	602	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTACCTGCAGGCAGCGTTC	0.582																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1804-1806)ccT>ccA		insulin receptor-related receptor							87.0	64.0	72.0					1																	156816315		2203	4300	6503	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156816315A>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.1806T>A	1.37:g.156816315A>T						NTRK1_ENST00000392302.2_Intron	p.P602P	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN			8	2202	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		602					O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.1806T>A	CCDS1160.1																																																																																				0.582	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		6	4	0	0	0	1	0	6	4				
STON1	11037	broad.mit.edu	37	2	48809015	48809015	+	Missense_Mutation	SNP	A	A	G			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr2:48809015A>G	ENST00000406226.1	+	3	1438	c.1243A>G	c.(1243-1245)Att>Gtt	p.I415V	STON1_ENST00000404752.1_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.I415V|STON1_ENST00000309835.3_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.I415V	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	415	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGAGCAAGAAATTTCCTTGGA	0.393																																						ENST00000309835.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37						c.(1243-1245)Att>Gtt		stonin 1							71.0	74.0	73.0					2																	48809015		2203	4300	6503	SO:0001583	missense	11037							g.chr2:48809015A>G	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1243A>G	2.37:g.48809015A>G	ENSP00000384615:p.Ile415Val					STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.I415V|STON1_ENST00000404752.1_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.I415V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.I415V|STON1_ENST00000406226.1_Missense_Mutation_p.I415V	p.I415V					Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1253	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)						A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1243A>G	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	A	4.491	0.091034	0.08632	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.54	0.0225	0.14133	Clathrin adaptor, mu subunit, C-terminal (3);	0.327469	0.36932	N	0.002340	T	0.09024	0.0223	N	0.20530	0.585	0.22500	N	0.999045	B;B;B	0.25312	0.008;0.004;0.123	B;B;B	0.27887	0.032;0.007;0.084	T	0.39143	-0.9628	10	0.15499	T	0.54	.	8.875	0.35340	0.5776:0.3588:0.0636:0.0	.	415;415;415	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	V	415	ENSP00000385273:I415V;ENSP00000384615:I415V;ENSP00000310969:I415V;ENSP00000385499:I415V;ENSP00000385701:I415V;ENSP00000378236:I415V;ENSP00000311493:I415V;ENSP00000378234:I415V	ENSP00000310969:I415V	I	+	1	0	STON1-GTF2A1L;STON1	48662519	1.000000	0.71417	0.030000	0.17652	0.875000	0.50365	1.823000	0.39062	-0.112000	0.11979	0.533000	0.62120	ATT		0.393	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		30	43	0	0	0	1	0	30	43				
TNXB	7148	broad.mit.edu	37	6	32053641	32053641	+	Missense_Mutation	SNP	C	C	T			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr6:32053641C>T	ENST00000375244.3	-	7	3235	c.3034G>A	c.(3034-3036)Gtc>Atc	p.V1012I	TNXB_ENST00000375247.2_Missense_Mutation_p.V1012I			P22105	TENX_HUMAN	tenascin XB	1099	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCTGGCGGACGTCCCCTGGC	0.657																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(3034-3036)Gtc>Atc		tenascin XB							52.0	61.0	58.0					6																	32053641		1303	2564	3867	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32053641C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3034G>A	6.37:g.32053641C>T	ENSP00000364393:p.Val1012Ile					TNXB_ENST00000375247.2_Missense_Mutation_p.V1012I	p.V1012I			P22105	TENX_HUMAN			7	3235	-			1099			Fibronectin type-III 2.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.3034G>A		.	.	.	.	.	.	.	.	.	.	c	9.863	1.196747	0.22037	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04603	3.59;3.59	3.93	-0.23	0.13090	.	1.869340	0.02844	N	0.128234	T	0.01092	0.0036	L	0.27053	0.805	0.09310	N	1	B	0.23316	0.083	B	0.17433	0.018	T	0.46303	-0.9201	10	0.41790	T	0.15	.	2.8668	0.05604	0.1985:0.4262:0.0:0.3753	.	1012	P22105-3	.	I	1012	ENSP00000364393:V1012I;ENSP00000364396:V1012I	ENSP00000364393:V1012I	V	-	1	0	TNXB	32161619	0.001000	0.12720	0.489000	0.27452	0.710000	0.40934	-0.126000	0.10563	-0.287000	0.09064	-0.349000	0.07799	GTC		0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		25	41	0	0	0	1	0	25	41				
NLRP6	171389	broad.mit.edu	37	11	284621	284621	+	Missense_Mutation	SNP	G	G	A			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr11:284621G>A	ENST00000312165.5	+	7	2519	c.2519G>A	c.(2518-2520)gGa>gAa	p.G840E	RP11-326C3.2_ENST00000533924.1_RNA|NLRP6_ENST00000534750.1_Missense_Mutation_p.G839E	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	840					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGCACCAGGGATGCGGCCTG	0.692																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(2515-2517)gGa>gAa		NLR family, pyrin domain containing 6							21.0	18.0	19.0					11																	284621		2197	4278	6475	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:284621G>A	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2519G>A	11.37:g.284621G>A	ENSP00000309767:p.Gly840Glu					NLRP6_ENST00000312165.5_Missense_Mutation_p.G840E	p.G839E	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	7	2721	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	840					A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.2516G>A	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	G	3.434	-0.115554	0.06881	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.52057	0.68;0.68	3.21	-1.91	0.07641	.	.	.	.	.	T	0.26955	0.0660	L	0.34521	1.04	0.09310	N	1	B;B	0.34103	0.138;0.437	B;B	0.29862	0.065;0.108	T	0.24225	-1.0166	9	0.08837	T	0.75	.	7.268	0.26239	0.1109:0.4965:0.3926:0.0	.	839;840	E9PJZ8;P59044	.;NALP6_HUMAN	E	839;840	ENSP00000433617:G839E;ENSP00000309767:G840E	ENSP00000309767:G840E	G	+	2	0	NLRP6	274621	0.000000	0.05858	0.000000	0.03702	0.264000	0.26372	-1.132000	0.03235	-0.498000	0.06632	-0.518000	0.04402	GGA		0.692	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		3	17	0	0	0	1	0	3	17				
AGXT2	64902	broad.mit.edu	37	5	35039553	35039553	+	Missense_Mutation	SNP	C	C	T			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr5:35039553C>T	ENST00000231420.6	-	3	438	c.238G>A	c.(238-240)Gca>Aca	p.A80T		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	80					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	TGGAAATATGCCGTCACCACA	0.473																																						ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(238-240)Gca>Aca		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						83.0	87.0	86.0					5																	35039553		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35039553C>T	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.238G>A	5.37:g.35039553C>T	ENSP00000231420:p.Ala80Thr						p.A80T	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	3	438	-	all_lung(31;4.52e-05)		80					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.238G>A	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.386409	0.25031	.	.	ENSG00000113492	ENST00000231420	T	0.18960	2.18	5.45	2.29	0.28610	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.148518	0.64402	N	0.000015	T	0.12263	0.0298	L	0.33339	1.005	0.19300	N	0.99998	B;B	0.14805	0.011;0.003	B;B	0.15484	0.013;0.003	T	0.26815	-1.0092	10	0.17832	T	0.49	-8.2545	5.2577	0.15555	0.0:0.4016:0.0:0.5984	.	80;80	E9PDL7;Q9BYV1	.;AGT2_HUMAN	T	80	ENSP00000231420:A80T	ENSP00000231420:A80T	A	-	1	0	AGXT2	35075310	0.996000	0.38824	0.014000	0.15608	0.149000	0.21700	2.919000	0.48836	0.677000	0.31305	0.655000	0.94253	GCA		0.473	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		4	74	0	0	0	1	0	4	74				
AGRN	375790	broad.mit.edu	37	1	980571	980571	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr1:980571delC	ENST00000379370.2	+	13	2335	c.2285delC	c.(2284-2286)gccfs	p.A762fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	762					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGCCTGTGGCCCCCTTACAC	0.672																																						ENST00000379370.2																			0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2284-2286)gcfs		agrin							27.0	28.0	28.0					1																	980571		2203	4297	6500	SO:0001589	frameshift_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:980571delC	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2285delC	1.37:g.980571delC	ENSP00000368678:p.Ala762fs						p.A762fs	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	13	2335	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	762					Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Frame_Shift_Del	DEL	ENST00000379370.2	37	c.2285delC	CCDS30551.1																																																																																				0.672	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		2	4						2	4	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38655531	38655531	+	Intron	DEL	C	C	-			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr3:38655531delC	ENST00000333535.4	-	6	761				SCN5A_ENST00000414099.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000443581.1_Intron|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000413689.1_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000423572.2_Intron|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000449557.2_Intron			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit						AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CGACAAATTGCCTAGTTTTAT	0.463																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(637-639)gcfs		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						48.0	46.0	47.0					3																	38655531		1883	4109	5992	SO:0001627	intron_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38655531delC	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.612-206G>-	3.37:g.38655531delC						SCN5A_ENST00000443581.1_Intron|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000423572.2_Intron|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000333535.4_Intron|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.G213fs|SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.G213fs	p.G213fs	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	6	831	-	Medulloblastoma(35;0.163)		213					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Frame_Shift_Del	DEL	ENST00000333535.4	37	c.638delG	CCDS46796.1																																																																																				0.463	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		2	4						2	4	---	---	---	---
BDH1	622	broad.mit.edu	37	3	197273266	197273266	+	Frame_Shift_Del	DEL	T	T	-			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr3:197273266delT	ENST00000392378.2	-	2	359	c.49delA	c.(49-51)accfs	p.T17fs	BDH1_ENST00000358186.2_Frame_Shift_Del_p.T17fs|BDH1_ENST00000392379.1_Frame_Shift_Del_p.T17fs|BDH1_ENST00000441275.1_Intron	NM_004051.4	NP_004042.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	17					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)		GCACTTAGGGTTTTTCCTGGG	0.552																																						ENST00000392379.1																			0				endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(49-51)ccfs		3-hydroxybutyrate dehydrogenase, type 1	NADH(DB00157)						109.0	111.0	110.0					3																	197273266		2203	4300	6503	SO:0001589	frameshift_variant	622				cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity	g.chr3:197273266delT	M93107	CCDS3328.1	3q29	2011-09-14	2005-11-15	2005-11-15	ENSG00000161267	ENSG00000161267	1.1.1.30	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	1027	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 1"""	603063	"""3-hydroxybutyrate dehydrogenase (heart, mitochondrial)"""	BDH		1639787, 19027726	Standard	XM_005269352		Approved	SDR9C1	uc003fxs.3	Q02338	OTTHUMG00000155478	ENST00000392378.2:c.49delA	3.37:g.197273266delT	ENSP00000376183:p.Thr17fs					BDH1_ENST00000392378.2_Frame_Shift_Del_p.T17fs|BDH1_ENST00000441275.1_Intron|BDH1_ENST00000358186.2_Frame_Shift_Del_p.T17fs	p.T17fs	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	3	450	-	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	17					D3DXC0|Q96ET1|Q9BRZ4	Frame_Shift_Del	DEL	ENST00000392378.2	37	c.49delA	CCDS3328.1																																																																																				0.552	BDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340267.1	NM_004051		33	50						33	50	---	---	---	---
LPCAT3	10162	broad.mit.edu	37	12	7084784	7084784	+	IGR	DEL	T	T	-			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr12:7084784delT	ENST00000261407.4	-	0	2268				LPCAT3_ENST00000535021.1_5'Flank|U47924.30_ENST00000606112.1_lincRNA|EMG1_ENST00000546220.1_Intron|EMG1_ENST00000261406.6_Intron	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TCAGCCATAGTTTTCCTGCCC	0.438																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase																																				SO:0001628	intergenic_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7084784delT	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970		12.37:g.7084784delT						U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA				Q92979	NEP1_HUMAN			0	651	+								B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	RNA	DEL	ENST00000261407.4	37		CCDS8572.1																																																																																				0.438	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		9	17						9	17	---	---	---	---
UBE2Q2P2	100134869	broad.mit.edu	37	15	83040944	83040944	+	RNA	DEL	T	T	-			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr15:83040944delT	ENST00000558477.1	+	0	233					NR_004847.2																						AACAAAAATCTTTTTTTTTTT	0.313																																						ENST00000558477.1																			0																																																			100134869							g.chr15:83040944delT																													15.37:g.83040944delT								NR_004847.2						0	233	+									RNA	DEL	ENST00000558477.1	37																																																																																						0.313	UBE2Q2P3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000419279.1			2	4						2	4	---	---	---	---
ZC3H7B	23264	broad.mit.edu	37	22	41721866	41721866	+	Frame_Shift_Del	DEL	C	C	-			TCGA-PR-A5PF-01A-11D-A35D-08	TCGA-PR-A5PF-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c3bf12f-8590-4cdc-9a35-043406ed0ef7	92c39d4a-abec-4f9d-80d6-06eeb76b447e	g.chr22:41721866delC	ENST00000352645.4	+	4	486	c.229delC	c.(229-231)cccfs	p.P77fs	ZC3H7B_ENST00000351589.4_Frame_Shift_Del_p.P77fs	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	77					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GGTGGCCCTGCCCCGGGAGCT	0.592																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(229-231)ccfs		zinc finger CCCH-type containing 7B							60.0	41.0	48.0					22																	41721866		2203	4300	6503	SO:0001589	frameshift_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41721866delC		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.229delC	22.37:g.41721866delC	ENSP00000345793:p.Pro77fs					ZC3H7B_ENST00000351589.4_Frame_Shift_Del_p.P77fs	p.P77fs	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			4	486	+			77					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Frame_Shift_Del	DEL	ENST00000352645.4	37	c.229delC	CCDS14013.1																																																																																				0.592	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		2	4						2	4	---	---	---	---
