#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
LRRC7	57554	broad.mit.edu	37	1	70502287	70502287	+	Silent	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:70502287T>C	ENST00000035383.5	+	18	2184	c.2154T>C	c.(2152-2154)caT>caC	p.H718H	LRRC7_ENST00000310961.5_Silent_p.H723H|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	718						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.H718H(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATGCAGTACATAATTCTTTGT	0.413																																						ENST00000310961.5																			1	Substitution - coding silent(1)	p.H718H(1)	prostate(1)	breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						c.(2167-2169)caT>caC		leucine rich repeat containing 7							140.0	154.0	149.0					1																	70502287		2203	4300	6503	SO:0001819	synonymous_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70502287T>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2154T>C	1.37:g.70502287T>C						LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Silent_p.H718H	p.H723H			Q96NW7	LRRC7_HUMAN			21	2587	+			718					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	ENST00000035383.5	37	c.2169T>C	CCDS645.1																																																																																				0.413	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		7	169	7	169	---	---	---	---
NOTCH2NL	388677	broad.mit.edu	37	1	145273385	145273385	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:145273385G>A	ENST00000369340.3	+	4	683	c.239G>A	c.(238-240)gGc>gAc	p.G80D	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	80	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G80D(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTGAATGGCGGCACATGCCAT	0.532																																						ENST00000369340.3																			2	Substitution - Missense(2)	p.G80D(2)	prostate(2)	NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(238-240)gGc>gAc		notch 2 N-terminal like							402.0	370.0	381.0					1																	145273385		2203	4300	6503	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273385G>A		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.239G>A	1.37:g.145273385G>A	ENSP00000358346:p.Gly80Asp					NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D	p.G80D			Q7Z3S9	NT2NL_HUMAN			4	683	+			80			EGF-like 3.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.239G>A	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.834089	0.50951	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.97480	-4.4;-4.4;-4.4	2.75	2.75	0.32379	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.98216	0.9410	M	0.90145	3.09	0.38396	D	0.945546	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98847	1.0757	9	0.87932	D	0	.	11.2552	0.49050	0.0:0.0:1.0:0.0	.	80;80	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	D	80	ENSP00000354929:G80D;ENSP00000344557:G80D;ENSP00000358346:G80D	ENSP00000344557:G80D	G	+	2	0	NOTCH2NL	143984742	1.000000	0.71417	0.997000	0.53966	0.256000	0.26092	8.043000	0.89432	1.532000	0.49169	0.394000	0.25966	GGC		0.532	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		7	493	7	493	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152191256	152191256	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:152191256C>T	ENST00000368801.2	-	3	2924	c.2849G>A	c.(2848-2850)gGc>gAc	p.G950D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	950					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.G950D(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCTGAGCCAGATCCATG	0.547																																						ENST00000368801.2																			1	Substitution - Missense(1)	p.G950D(1)	prostate(1)	autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2848-2850)gGc>gAc		hornerin							264.0	261.0	262.0					1																	152191256		2203	4298	6501	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191256C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2849G>A	1.37:g.152191256C>T	ENSP00000357791:p.Gly950Asp					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.G950D	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2924	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		950					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2849G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	5.463	0.270525	0.10349	.	.	ENSG00000197915	ENST00000368801	T	0.01745	4.66	3.62	1.64	0.23874	.	.	.	.	.	T	0.00724	0.0024	L	0.61218	1.895	0.09310	N	1	P	0.48162	0.906	B	0.35413	0.202	T	0.51403	-0.8710	9	0.25751	T	0.34	.	9.5235	0.39149	0.0:0.5538:0.4462:0.0	.	950	Q86YZ3	HORN_HUMAN	D	950	ENSP00000357791:G950D	ENSP00000357791:G950D	G	-	2	0	HRNR	150457880	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.093000	0.15086	0.197000	0.20387	-0.488000	0.04728	GGC		0.547	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		265	245	265	245	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25469138	25469138	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr2:25469138C>T	ENST00000264709.3	-	11	1657	c.1320G>A	c.(1318-1320)tgG>tgA	p.W440*	DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W217*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W251*|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W440*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	440					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.W440*(1)|p.W251*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGTTCCACCCACATGTCCG	0.547			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		2	Substitution - Nonsense(2)	p.W440*(1)|p.W251*(1)	prostate(2)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1318-1320)tgG>tgA		DNA (cytosine-5-)-methyltransferase 3 alpha							142.0	144.0	143.0					2																	25469138		2203	4300	6503	SO:0001587	stop_gained	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25469138C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1320G>A	2.37:g.25469138C>T	ENSP00000264709:p.Trp440*					DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W251*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W217*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W440*	p.W440*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			11	1657	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		440					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	37	c.1320G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	40	8.266005	0.98735	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-7.0978	17.4192	0.87510	0.0:1.0:0.0:0.0	.	.	.	.	X	251;440;440;217	.	ENSP00000264709:W440X	W	-	3	0	DNMT3A	25322642	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.310000	0.78947	2.710000	0.92621	0.655000	0.94253	TGG		0.547	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		61	146	61	146	---	---	---	---
BRE	9577	broad.mit.edu	37	2	28117448	28117448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr2:28117448C>T	ENST00000342045.2	+	3	166	c.25C>T	c.(25-27)Cga>Tga	p.R9*	BRE_ENST00000379624.1_Nonsense_Mutation_p.R9*|BRE_ENST00000344773.2_Nonsense_Mutation_p.R9*|BRE_ENST00000603461.1_Intron|BRE_ENST00000361704.2_Nonsense_Mutation_p.R9*|BRE_ENST00000379632.2_Nonsense_Mutation_p.R9*	NM_199194.2	NP_954664.1			brain and reproductive organ-expressed (TNFRSF1A modulator)									p.R9*(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GGCCTTGAACCGAATATCTCC	0.418																																						ENST00000344773.2																			2	Substitution - Nonsense(2)	p.R9*(2)	prostate(2)	NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23						c.(25-27)Cga>Tga		brain and reproductive organ-expressed (TNFRSF1A modulator)							243.0	230.0	234.0					2																	28117448		2203	4300	6503	SO:0001587	stop_gained	9577				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	g.chr2:28117448C>T	AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000342045.2:c.25C>T	2.37:g.28117448C>T	ENSP00000339371:p.Arg9*					BRE_ENST00000361704.2_Nonsense_Mutation_p.R9*|BRE_ENST00000379632.2_Nonsense_Mutation_p.R9*|BRE_ENST00000342045.2_Nonsense_Mutation_p.R9*|BRE_ENST00000379624.1_Nonsense_Mutation_p.R9*|BRE_ENST00000603461.1_Intron	p.R9*	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN			2	163	+	Acute lymphoblastic leukemia(172;0.155)		9						Nonsense_Mutation	SNP	ENST00000342045.2	37	c.25C>T	CCDS1763.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465651	0.96257	.	.	ENSG00000158019	ENST00000436924;ENST00000344773;ENST00000379624;ENST00000342045;ENST00000379632;ENST00000361704;ENST00000379629	.	.	.	5.91	1.91	0.25777	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-14.1688	15.6353	0.76946	0.5757:0.4243:0.0:0.0	.	.	.	.	X	9	.	ENSP00000339371:R9X	R	+	1	2	BRE	27970952	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	0.722000	0.25925	0.375000	0.24679	-0.182000	0.12963	CGA		0.418	BRE-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215114.1			80	268	80	268	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121413151	121413151	+	Silent	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr3:121413151T>C	ENST00000340645.5	-	13	6329	c.6204A>G	c.(6202-6204)gaA>gaG	p.E2068E	GOLGB1_ENST00000393667.3_Silent_p.E2073E	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2068					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E2068E(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTTGCGGTGTTCAACTGCTT	0.403																																						ENST00000393667.3																			1	Substitution - coding silent(1)	p.E2068E(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(6217-6219)gaA>gaG		golgin B1							119.0	119.0	119.0					3																	121413151		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121413151T>C	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6204A>G	3.37:g.121413151T>C						GOLGB1_ENST00000340645.5_Silent_p.E2068E	p.E2073E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	6329	-			2068					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.6219A>G	CCDS3004.1																																																																																				0.403	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		4	317	4	317	---	---	---	---
BCL6	604	broad.mit.edu	37	3	187451335	187451335	+	Silent	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr3:187451335G>A	ENST00000406870.2	-	3	513	c.147C>T	c.(145-147)gtC>gtT	p.V49V	BCL6_ENST00000232014.4_Silent_p.V49V|BCL6_ENST00000496823.1_5'Flank|RP11-211G3.3_ENST00000449623.1_Silent_p.R51R|BCL6_ENST00000450123.2_Silent_p.V49V	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	49	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V49V(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGGCCATGAGGACCGTTTTAT	0.507			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		1	Substitution - coding silent(1)	p.V49V(1)	prostate(1)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(145-147)gtC>gtT		B-cell CLL/lymphoma 6							135.0	133.0	133.0					3																	187451335		2203	4300	6503	SO:0001819	synonymous_variant	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187451335G>A		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.147C>T	3.37:g.187451335G>A						RP11-211G3.3_ENST00000449623.1_Silent_p.R51R|BCL6_ENST00000232014.4_Silent_p.V49V|BCL6_ENST00000450123.2_Silent_p.V49V	p.V49V	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	3	513	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		49			BTB.		A7E241|B8PSA7|D3DNV5	Silent	SNP	ENST00000406870.2	37	c.147C>T	CCDS3289.1																																																																																				0.507	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		11	190	11	190	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85603587	85603587	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr4:85603587G>A	ENST00000295888.4	-	64	10170	c.9763C>T	c.(9763-9765)Cca>Tca	p.P3255S	WDFY3_ENST00000322366.6_Missense_Mutation_p.P3238S	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3255	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.P3255S(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCAGGAGCTGGTGTTTCAGGA	0.318																																						ENST00000322366.6																			1	Substitution - Missense(1)	p.P3255S(1)	prostate(1)	breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9712-9714)Cca>Tca		WD repeat and FYVE domain containing 3							56.0	58.0	58.0					4																	85603587		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85603587G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9763C>T	4.37:g.85603587G>A	ENSP00000295888:p.Pro3255Ser					WDFY3_ENST00000295888.4_Missense_Mutation_p.P3255S	p.P3238S			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	63	10119	-		Hepatocellular(203;0.114)	3255					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.9712C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802300	0.70682	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64260	-0.09;-0.09	5.98	5.98	0.97165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	L	0.29908	0.895	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.57631	-0.7778	10	0.06757	T	0.87	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	3255	Q8IZQ1	WDFY3_HUMAN	S	3238;3255	ENSP00000318466:P3238S;ENSP00000295888:P3255S	ENSP00000295888:P3255S	P	-	1	0	WDFY3	85822611	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.027000	0.93706	2.847000	0.97988	0.591000	0.81541	CCA		0.318	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		21	75	21	75	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80513248	80513248	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr5:80513248A>C	ENST00000265080.4	+	25	3575	c.3508A>C	c.(3508-3510)Aac>Cac	p.N1170H	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1170	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N1170H(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGGAACACCAAACTTTACTGA	0.403																																						ENST00000265080.4																			1	Substitution - Missense(1)	p.N1170H(1)	prostate(1)	biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(3508-3510)Aac>Cac		Ras protein-specific guanine nucleotide-releasing factor 2							136.0	137.0	137.0					5																	80513248		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80513248A>C	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3508A>C	5.37:g.80513248A>C	ENSP00000265080:p.Asn1170His					CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA	p.N1170H	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	25	3575	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	1170			Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.3508A>C	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.789724	0.70337	.	.	ENSG00000113319	ENST00000265080	T	0.32753	1.44	6.03	2.28	0.28536	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.089715	0.85682	D	0.000000	T	0.44159	0.1280	M	0.69358	2.11	0.50467	D	0.999876	D	0.59357	0.985	P	0.56788	0.806	T	0.33599	-0.9862	10	0.87932	D	0	.	9.8453	0.41024	0.8029:0.0:0.1971:0.0	.	1170	O14827	RGRF2_HUMAN	H	1170	ENSP00000265080:N1170H	ENSP00000265080:N1170H	N	+	1	0	RASGRF2	80549004	1.000000	0.71417	0.994000	0.49952	0.897000	0.52465	6.291000	0.72719	0.158000	0.19367	-0.250000	0.11733	AAC		0.403	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		13	217	13	217	---	---	---	---
SLC25A27	9481	broad.mit.edu	37	6	46623671	46623671	+	Silent	SNP	C	C	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr6:46623671C>A	ENST00000371347.5	+	2	450	c.198C>A	c.(196-198)gcC>gcA	p.A66A	SLC25A27_ENST00000411689.2_Silent_p.A66A|SLC25A27_ENST00000452689.2_5'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	66					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.A66A(1)		central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GAGAATCTGCCCCCTATAGGG	0.502																																						ENST00000371347.5																			1	Substitution - coding silent(1)	p.A66A(1)	prostate(1)	central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8						c.(196-198)gcC>gcA		solute carrier family 25, member 27							103.0	105.0	104.0					6																	46623671		1887	4112	5999	SO:0001819	synonymous_variant	9481				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		g.chr6:46623671C>A	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"""Solute carriers"""	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.198C>A	6.37:g.46623671C>A						SLC25A27_ENST00000452689.2_5'UTR|SLC25A27_ENST00000411689.2_Silent_p.A66A	p.A66A	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	Lung(136;0.192)		2	450	+			66					F5GWR4|Q5VTS9|Q8N518	Silent	SNP	ENST00000371347.5	37	c.198C>A	CCDS43470.1																																																																																				0.502	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1	NM_004277		4	140	4	140	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48315047	48315047	+	Silent	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr7:48315047C>T	ENST00000435803.1	+	17	5808	c.5784C>T	c.(5782-5784)gtC>gtT	p.V1928V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1928					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V1928V(2)|p.V1873V(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACCGTTTGTCCCACCTTCAA	0.363																																						ENST00000435803.1																			3	Substitution - coding silent(3)	p.V1928V(2)|p.V1873V(1)	prostate(3)	breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(5782-5784)gtC>gtT		ATP-binding cassette, sub-family A (ABC1), member 13							122.0	123.0	123.0					7																	48315047		1827	4090	5917	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48315047C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5784C>T	7.37:g.48315047C>T							p.V1928V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	5808	+			1928					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.5784C>T	CCDS47584.1																																																																																				0.363	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		88	250	88	250	---	---	---	---
LRRC17	10234	broad.mit.edu	37	7	102574825	102574825	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr7:102574825G>C	ENST00000339431.4	+	2	760	c.465G>C	c.(463-465)ttG>ttC	p.L155F	FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000249377.4_Missense_Mutation_p.L155F	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	155					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)		p.L155F(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						CACCTCTCTTGAGCTACCTGC	0.458																																						ENST00000249377.4																			1	Substitution - Missense(1)	p.L155F(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(463-465)ttG>ttC		leucine rich repeat containing 17							142.0	137.0	138.0					7																	102574825		2203	4300	6503	SO:0001583	missense	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102574825G>C	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.465G>C	7.37:g.102574825G>C	ENSP00000344242:p.Leu155Phe					FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.L155F|FBXL13_ENST00000436908.1_Intron	p.L155F	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN			2	746	+			155					Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	ENST00000339431.4	37	c.465G>C	CCDS34721.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374203	0.61735	.	.	ENSG00000128606	ENST00000339431;ENST00000249377	T;D	0.94966	1.68;-3.57	5.41	2.47	0.30058	.	0.000000	0.43919	D	0.000502	D	0.97250	0.9101	H	0.94264	3.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95547	0.8617	10	0.87932	D	0	-11.4443	5.2543	0.15539	0.182:0.3649:0.4531:0.0	.	155;155	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	F	155	ENSP00000344242:L155F;ENSP00000249377:L155F	ENSP00000249377:L155F	L	+	3	2	LRRC17	102362061	0.935000	0.31712	1.000000	0.80357	0.989000	0.77384	0.624000	0.24462	0.721000	0.32231	0.557000	0.71058	TTG		0.458	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		41	120	41	120	---	---	---	---
ADAMTS13	11093	broad.mit.edu	37	9	136324223	136324223	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr9:136324223G>A	ENST00000371929.3	+	29	4649	c.4205G>A	c.(4204-4206)cGg>cAg	p.R1402Q	CACFD1_ENST00000316948.4_5'Flank|CACFD1_ENST00000291722.7_5'Flank|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1346Q|CACFD1_ENST00000540581.1_5'Flank|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R1315Q|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.R198Q|CACFD1_ENST00000542192.1_5'Flank	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1402	CUB 2.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1402Q(2)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCAGCCTGCGGGGCCAGTAC	0.587																																						ENST00000371929.3																			2	Substitution - Missense(2)	p.R1402Q(2)	prostate(2)	central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(4204-4206)cGg>cAg		ADAM metallopeptidase with thrombospondin type 1 motif, 13							39.0	36.0	37.0					9																	136324223		2200	4300	6500	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136324223G>A	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.4205G>A	9.37:g.136324223G>A	ENSP00000360997:p.Arg1402Gln					ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R1315Q|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.R198Q|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1346Q|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR	p.R1402Q	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	29	4649	+			1402			CUB 2.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.4205G>A	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324465	0.41197	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000371910	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.87	0.923	0.19413	CUB (1);	.	.	.	.	T	0.26195	0.0639	L	0.28192	0.835	0.44807	D	0.997811	P;P;P	0.44281	0.612;0.831;0.831	B;B;B	0.33042	0.078;0.157;0.157	T	0.02617	-1.1133	9	0.49607	T	0.09	.	6.8628	0.24076	0.3988:0.0:0.6012:0.0	.	1402;1315;1346	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	Q	1402;1346;1315;198	ENSP00000360997:R1402Q;ENSP00000347927:R1346Q;ENSP00000348997:R1315Q;ENSP00000360978:R198Q	ENSP00000347927:R1346Q	R	+	2	0	ADAMTS13	135314044	0.987000	0.35691	0.733000	0.30861	0.575000	0.36095	1.858000	0.39408	-0.108000	0.12066	-0.157000	0.13467	CGG		0.587	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		7	26	7	26	---	---	---	---
SUPV3L1	6832	broad.mit.edu	37	10	70940278	70940278	+	Silent	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr10:70940278C>T	ENST00000359655.4	+	1	291	c.231C>T	c.(229-231)gaC>gaT	p.D77D	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	77					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.D77D(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAGCGCCGACGGCGACGTCG	0.652																																						ENST00000359655.4																			1	Substitution - coding silent(1)	p.D77D(1)	prostate(1)	NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(229-231)gaC>gaT		suppressor of var1, 3-like 1 (S. cerevisiae)							47.0	55.0	53.0					10																	70940278		2203	4299	6502	SO:0001819	synonymous_variant	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70940278C>T	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.231C>T	10.37:g.70940278C>T						SUPV3L1_ENST00000483572.1_3'UTR	p.D77D	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN			1	291	+			77					A8K301|O43630	Silent	SNP	ENST00000359655.4	37	c.231C>T	CCDS7287.1																																																																																				0.652	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		31	78	31	78	---	---	---	---
IFIT1	3434	broad.mit.edu	37	10	91162072	91162072	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr10:91162072C>A	ENST00000371804.3	+	2	207	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_5'UTR	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	14					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)	p.L14M(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CAAGGATAGTCTGGAGCAATT	0.353																																						ENST00000371804.3																			1	Substitution - Missense(1)	p.L14M(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(40-42)Ctg>Atg		interferon-induced protein with tetratricopeptide repeats 1							124.0	115.0	118.0					10																	91162072		2203	4300	6503	SO:0001583	missense	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162072C>A	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.40C>A	10.37:g.91162072C>A	ENSP00000360869:p.Leu14Met					IFIT1_ENST00000546318.1_5'UTR|LIPA_ENST00000371837.1_Intron	p.L14M	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN			2	207	+			14					B3KS50|D3DR31|Q5T7J1|Q96QM5	Missense_Mutation	SNP	ENST00000371804.3	37	c.40C>A	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.368322	0.61513	.	.	ENSG00000185745	ENST00000371804	T	0.55760	0.5	5.02	3.17	0.36434	.	0.000000	0.64402	D	0.000003	T	0.73984	0.3657	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75348	-0.3349	10	0.62326	D	0.03	.	9.4205	0.38548	0.0:0.8236:0.0:0.1764	.	14;14	Q5T7J1;P09914	.;IFIT1_HUMAN	M	14	ENSP00000360869:L14M	ENSP00000360869:L14M	L	+	1	2	IFIT1	91152052	0.947000	0.32204	0.073000	0.20177	0.136000	0.21042	2.011000	0.40922	0.623000	0.30267	0.563000	0.77884	CTG		0.353	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		17	144	17	144	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55135714	55135714	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr11:55135714A>T	ENST00000314706.3	+	1	355	c.355A>T	c.(355-357)Acc>Tcc	p.T119S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T119S(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGAGAAAAAGACCATTTCCTT	0.388																																						ENST00000314706.3																			1	Substitution - Missense(1)	p.T119S(1)	prostate(1)	NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(355-357)Acc>Tcc		olfactory receptor, family 4, subfamily A, member 15							154.0	153.0	153.0					11																	55135714		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135714A>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.355A>T	11.37:g.55135714A>T	ENSP00000325065:p.Thr119Ser						p.T119S	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	355	+			119					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.355A>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	a	8.253	0.809415	0.16537	.	.	ENSG00000181958	ENST00000314706	T	0.00527	6.79	3.48	1.01	0.19927	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000087	T	0.00468	0.0015	L	0.47016	1.485	0.09310	N	0.999999	P	0.41784	0.762	B	0.43194	0.411	T	0.51403	-0.8710	10	0.45353	T	0.12	.	3.8913	0.09120	0.7021:0.0:0.1124:0.1856	.	119	Q8NGL6	O4A15_HUMAN	S	119	ENSP00000325065:T119S	ENSP00000325065:T119S	T	+	1	0	OR4A15	54892290	0.000000	0.05858	0.010000	0.14722	0.273000	0.26683	-0.289000	0.08365	0.004000	0.14682	0.403000	0.27427	ACC		0.388	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		11	364	11	364	---	---	---	---
ATM	472	broad.mit.edu	37	11	108180931	108180931	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr11:108180931T>C	ENST00000452508.2	+	40	5996	c.5807T>C	c.(5806-5808)tTa>tCa	p.L1936S	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L1936S			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1936					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.L1936S(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGGCTGGATTTAAATTATCTA	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		2	Substitution - Missense(2)	p.L1936S(2)	prostate(2)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(5806-5808)tTa>tCa	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							70.0	74.0	73.0					11																	108180931		2201	4297	6498	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108180931T>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5807T>C	11.37:g.108180931T>C	ENSP00000388058:p.Leu1936Ser	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.L1936S|C11orf65_ENST00000525729.1_Intron	p.L1936S	NM_000051.3	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	39	6192	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1936					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5807T>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195943	0.58126	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.80214	-1.35;-1.35	5.7	5.7	0.88788	Armadillo-type fold (1);	0.066576	0.64402	D	0.000009	D	0.88020	0.6325	M	0.78049	2.395	0.80722	D	1	P;D	0.57257	0.955;0.979	P;P	0.57776	0.809;0.827	D	0.89616	0.3845	10	0.87932	D	0	.	15.9668	0.79979	0.0:0.0:0.0:1.0	.	588;1936	E9PFP9;Q13315	.;ATM_HUMAN	S	1936	ENSP00000278616:L1936S;ENSP00000388058:L1936S	ENSP00000278616:L1936S	L	+	2	0	ATM	107686141	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.402000	0.79972	2.173000	0.68751	0.455000	0.32223	TTA		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		37	91	37	91	---	---	---	---
USP28	57646	broad.mit.edu	37	11	113704218	113704218	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr11:113704218G>C	ENST00000003302.4	-	7	751	c.683C>G	c.(682-684)tCa>tGa	p.S228*	USP28_ENST00000545540.1_Nonsense_Mutation_p.S103*|USP28_ENST00000260188.5_Nonsense_Mutation_p.S228*|USP28_ENST00000537706.1_Nonsense_Mutation_p.S228*|USP28_ENST00000542033.1_5'UTR	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	228	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S228*(2)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TTTTCTATTTGATCCCATCAT	0.383																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			2	Substitution - Nonsense(2)	p.S228*(2)	prostate(2)	breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(682-684)tCa>tGa		ubiquitin specific peptidase 28							109.0	109.0	109.0					11																	113704218		2201	4296	6497	SO:0001587	stop_gained	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113704218G>C	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.683C>G	11.37:g.113704218G>C	ENSP00000003302:p.Ser228*					USP28_ENST00000545540.1_Nonsense_Mutation_p.S103*|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Nonsense_Mutation_p.S228*|USP28_ENST00000537706.1_Nonsense_Mutation_p.S228*	p.S228*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	7	751	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	228					B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	ENST00000003302.4	37	c.683C>G	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	39	7.565222	0.98361	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000537706;ENST00000537642	.	.	.	4.74	3.81	0.43845	.	0.209202	0.43110	D	0.000620	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.942	14.3186	0.66470	0.0:0.0:0.8504:0.1496	.	.	.	.	X	228;228;103;228;127	.	ENSP00000003302:S228X	S	-	2	0	USP28	113209428	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.228000	0.95250	1.216000	0.43427	0.558000	0.71614	TCA		0.383	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			5	123	5	123	---	---	---	---
OTOGL	283310	broad.mit.edu	37	12	80750271	80750271	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr12:80750271C>G	ENST00000547103.1	+	47	5825	c.5819C>G	c.(5818-5820)cCt>cGt	p.P1940R	OTOGL_ENST00000546620.1_5'UTR|OTOGL_ENST00000458043.2_Missense_Mutation_p.P1952R			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1940	Cys-rich.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)	p.P395A(2)|p.P1952R(1)|p.P317R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GGCCACAGTCCTCTTTCTTGC	0.328																																						ENST00000458043.2																			4	Substitution - Missense(4)	p.P395A(2)|p.P1952R(1)|p.P317R(1)	prostate(4)	breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(5854-5856)cCt>cGt		otogelin-like							103.0	97.0	99.0					12																	80750271		1849	4094	5943	SO:0001583	missense	283310							g.chr12:80750271C>G	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5819C>G	12.37:g.80750271C>G	ENSP00000447211:p.Pro1940Arg					OTOGL_ENST00000547103.1_Missense_Mutation_p.P1940R|OTOGL_ENST00000546620.1_5'UTR	p.P1952R	NM_173591.3	NP_775862.3					47	5861	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.5855C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.403418|2.403418	0.42613|0.42613	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043	.|T;T	.|0.28895	.|1.59;1.59	5.17|5.17	3.33|3.33	0.38152|0.38152	.|.	.|.	.|.	.|.	.|.	T|T	0.47358|0.47358	0.1441|0.1441	M|M	0.80746|0.80746	2.51|2.51	0.24976|0.24976	N|N	0.991634|0.991634	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.36866|0.36866	-0.9730|-0.9730	5|7	.|0.56958	.|D	.|0.05	.|.	11.5388|11.5388	0.50655|0.50655	0.0:0.8534:0.0:0.1466|0.0:0.8534:0.0:0.1466	.|.	.|.	.|.	.|.	V|R	395|1940;1952	.|ENSP00000447211:P1940R;ENSP00000400895:P1952R	.|ENSP00000400895:P1952R	L|P	+|+	1|2	0|0	OTOGL|OTOGL	79274402|79274402	0.041000|0.041000	0.20044|0.20044	0.383000|0.383000	0.26132|0.26132	0.846000|0.846000	0.48090|0.48090	2.428000|2.428000	0.44749|0.44749	0.571000|0.571000	0.29365|0.29365	0.557000|0.557000	0.71058|0.71058	CTC|CCT		0.328	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		22	99	22	99	---	---	---	---
ISCU	23479	broad.mit.edu	37	12	108958127	108958127	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr12:108958127C>A	ENST00000311893.9	+	2	209	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	ISCU_ENST00000338291.4_Missense_Mutation_p.L38M|ISCU_ENST00000535729.1_Missense_Mutation_p.L63M|SART3_ENST00000546611.1_5'Flank|ISCU_ENST00000431221.2_Missense_Mutation_p.L63M|SART3_ENST00000228284.3_5'Flank|ISCU_ENST00000392807.4_Missense_Mutation_p.L38M|ISCU_ENST00000539593.1_Missense_Mutation_p.L63M|ISCU_ENST00000547005.1_Missense_Mutation_p.L63M	NM_213595.2	NP_998760.1	Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	63					iron-sulfur cluster assembly (GO:0016226)|nitrogen fixation (GO:0009399)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|iron-sulfur cluster binding (GO:0051536)|protein complex scaffold (GO:0032947)	p.L38M(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						TGGAACTGGACTGGTGGGGGC	0.373																																						ENST00000535729.1																			1	Substitution - Missense(1)	p.L38M(1)	prostate(1)	kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						c.(187-189)Ctg>Atg		iron-sulfur cluster assembly enzyme							83.0	86.0	85.0					12																	108958127		2203	4300	6503	SO:0001583	missense	23479				iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold	g.chr12:108958127C>A	U47101	CCDS9118.1, CCDS44966.1, CCDS73518.1	12q24.1	2013-08-05	2013-08-05	2006-10-24	ENSG00000136003	ENSG00000136003			29882	protein-coding gene	gene with protein product		611911	"""NifU-like N-terminal domain containing"", ""IscU iron-sulfur cluster scaffold homolog (E. coli)"", ""iron-sulfur cluster scaffold homolog (E. coli)"""	NIFUN		8875867, 11060020	Standard	XM_005268760		Approved	ISU2, hnifU, IscU	uc010sxc.2	Q9H1K1	OTTHUMG00000168420	ENST00000311893.9:c.187C>A	12.37:g.108958127C>A	ENSP00000310623:p.Leu63Met					ISCU_ENST00000392807.4_Missense_Mutation_p.L38M|ISCU_ENST00000539593.1_Missense_Mutation_p.L63M|ISCU_ENST00000547005.1_Missense_Mutation_p.L63M|ISCU_ENST00000431221.2_Missense_Mutation_p.L63M|ISCU_ENST00000311893.9_Missense_Mutation_p.L63M|ISCU_ENST00000338291.4_Missense_Mutation_p.L38M	p.L63M			Q9H1K1	ISCU_HUMAN			2	209	+			63					Q6P713|Q99617|Q9H1K2	Missense_Mutation	SNP	ENST00000311893.9	37	c.187C>A	CCDS44966.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786992	0.49997	.	.	ENSG00000136003	ENST00000535729;ENST00000431221;ENST00000547005;ENST00000311893;ENST00000392807;ENST00000338291;ENST00000539593	T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	6.06	-12.1	0.00011	NIF system FeS cluster assembly, NifU, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77025	0.4070	L	0.45051	1.395	0.36426	D	0.864615	P;B;D;P;P;P	0.67145	0.935;0.392;0.996;0.92;0.835;0.547	P;P;D;P;P;P	0.75020	0.824;0.711;0.985;0.73;0.612;0.541	D	0.90671	0.4598	10	0.16420	T	0.52	.	19.7098	0.96094	0.0:0.6402:0.0:0.3598	.	63;63;63;63;38;38	B3KQ30;Q9H1K1;B4DNC9;F5H5N2;B1P7G3;Q9H1K1-2	.;ISCU_HUMAN;.;.;.;.	M	63;63;63;63;38;38;63	ENSP00000445598:L63M;ENSP00000411108:L63M;ENSP00000446606:L63M;ENSP00000310623:L63M;ENSP00000376554:L38M;ENSP00000344584:L38M;ENSP00000443272:L63M	ENSP00000310623:L63M	L	+	1	2	ISCU	107482256	0.003000	0.15002	0.048000	0.18961	0.942000	0.58702	-0.133000	0.10451	-2.869000	0.00324	-1.202000	0.01658	CTG		0.373	ISCU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399693.1	NM_014301		22	78	22	78	---	---	---	---
MYH7	4625	broad.mit.edu	37	14	23885344	23885344	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr14:23885344G>A	ENST00000355349.3	-	34	4984	c.4822C>T	c.(4822-4824)Cgc>Tgc	p.R1608C	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1608					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.R1608C(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCTCGTTGCGGCTGCGTGTC	0.622																																						ENST00000355349.3																			1	Substitution - Missense(1)	p.R1608C(1)	prostate(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4822-4824)Cgc>Tgc		myosin, heavy chain 7, cardiac muscle, beta							175.0	141.0	153.0					14																	23885344		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23885344G>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4822C>T	14.37:g.23885344G>A	ENSP00000347507:p.Arg1608Cys						p.R1608C	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	34	4984	-	all_cancers(95;2.54e-05)		1608					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4822C>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336384	0.60963	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.81499	-1.5	4.55	4.55	0.56014	Myosin tail (1);	.	.	.	.	D	0.92401	0.7588	H	0.96048	3.76	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	D	0.94351	0.7579	9	0.87932	D	0	.	14.4145	0.67139	0.0:0.0:0.8524:0.1476	.	1608	P12883	MYH7_HUMAN	C	1608;1613	ENSP00000347507:R1608C	ENSP00000347507:R1608C	R	-	1	0	MYH7	22955184	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.176000	0.42500	2.537000	0.85549	0.655000	0.94253	CGC		0.622	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		58	118	58	118	---	---	---	---
NUMB	8650	broad.mit.edu	37	14	73743464	73743464	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr14:73743464T>G	ENST00000355058.3	-	13	2056	c.1778A>C	c.(1777-1779)gAt>gCt	p.D593A	NUMB_ENST00000554521.2_Missense_Mutation_p.D387A|NUMB_ENST00000560335.1_Missense_Mutation_p.D447A|NUMB_ENST00000535282.1_Missense_Mutation_p.D582A|NUMB_ENST00000544991.3_Missense_Mutation_p.D398A|NUMB_ENST00000454166.4_Missense_Mutation_p.D447A|NUMB_ENST00000557597.1_Missense_Mutation_p.D582A|RP4-647C14.3_ENST00000556578.1_RNA|NUMB_ENST00000555394.1_Missense_Mutation_p.D545A|NUMB_ENST00000554546.1_Missense_Mutation_p.D534A|NUMB_ENST00000559312.1_Missense_Mutation_p.D398A|NUMB_ENST00000555238.1_Missense_Mutation_p.D593A|NUMB_ENST00000556772.1_Missense_Mutation_p.D449A|NUMB_ENST00000356296.4_Missense_Mutation_p.D545A|NUMB_ENST00000555738.2_Missense_Mutation_p.D436A|NUMB_ENST00000359560.3_Missense_Mutation_p.D582A			P49757	NUMB_HUMAN	numb homolog (Drosophila)	593					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D593A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CCTGCCATCATCTACACCATT	0.527																																						ENST00000556772.1																			1	Substitution - Missense(1)	p.D593A(1)	prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(1345-1347)gAt>gCt		numb homolog (Drosophila)							80.0	70.0	74.0					14																	73743464		2203	4300	6503	SO:0001583	missense	8650				axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		g.chr14:73743464T>G	L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.1778A>C	14.37:g.73743464T>G	ENSP00000347169:p.Asp593Ala					NUMB_ENST00000355058.3_Missense_Mutation_p.D593A|NUMB_ENST00000555738.2_Missense_Mutation_p.D436A|NUMB_ENST00000555394.1_Missense_Mutation_p.D545A|NUMB_ENST00000554546.1_Missense_Mutation_p.D534A|NUMB_ENST00000560335.1_Missense_Mutation_p.D447A|NUMB_ENST00000356296.4_Missense_Mutation_p.D545A|NUMB_ENST00000554521.2_Missense_Mutation_p.D387A|NUMB_ENST00000557597.1_Missense_Mutation_p.D582A|NUMB_ENST00000535282.1_Missense_Mutation_p.D582A|NUMB_ENST00000544991.3_Missense_Mutation_p.D398A|NUMB_ENST00000454166.4_Missense_Mutation_p.D447A|NUMB_ENST00000559312.1_Missense_Mutation_p.D398A|NUMB_ENST00000555238.1_Missense_Mutation_p.D593A|NUMB_ENST00000359560.3_Missense_Mutation_p.D582A	p.D449A			P49757	NUMB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)	7	3633	-			593					B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Missense_Mutation	SNP	ENST00000355058.3	37	c.1346A>C	CCDS32116.1	.	.	.	.	.	.	.	.	.	.	T	13.29	2.192552	0.38707	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000556772;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282	T;T;T;T;T;T;T;T;T;T;T;T;T	0.56611	0.45;0.5;0.93;0.93;1.5;0.93;0.93;0.5;0.48;0.48;0.48;0.48;0.93	5.14	5.14	0.70334	.	0.235103	0.42053	D	0.000771	T	0.48021	0.1477	N	0.08118	0	0.38935	D	0.958023	D;B;B;B;B;P;P;B;B	0.69078	0.997;0.099;0.099;0.099;0.099;0.95;0.95;0.002;0.001	P;B;B;B;B;P;P;B;B	0.60682	0.878;0.04;0.04;0.04;0.04;0.544;0.544;0.013;0.002	T	0.50767	-0.8789	10	0.21014	T	0.42	-13.9349	15.1217	0.72450	0.0:0.0:0.0:1.0	.	291;436;447;387;398;534;545;582;593	B1P2N9;B1P2N6;B1P2N5;B1P2N8;B1P2N7;P49757-4;P49757-2;P49757-3;P49757	.;.;.;.;.;.;.;.;NUMB_HUMAN	A	534;545;582;593;449;593;582;545;398;447;436;387;582	ENSP00000452416:D534A;ENSP00000348644:D545A;ENSP00000451117:D582A;ENSP00000451300:D593A;ENSP00000451513:D449A;ENSP00000347169:D593A;ENSP00000352563:D582A;ENSP00000451625:D545A;ENSP00000446001:D398A;ENSP00000394025:D447A;ENSP00000452069:D436A;ENSP00000450817:D387A;ENSP00000441258:D582A	ENSP00000347169:D593A	D	-	2	0	NUMB	72813217	0.997000	0.39634	0.859000	0.33776	0.957000	0.61999	3.518000	0.53451	2.165000	0.68154	0.459000	0.35465	GAT		0.527	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			17	36	17	36	---	---	---	---
EML5	161436	broad.mit.edu	37	14	89168815	89168815	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr14:89168815A>G	ENST00000380664.5	-	14	2212	c.2213T>C	c.(2212-2214)tTg>tCg	p.L738S	EML5_ENST00000352093.5_Missense_Mutation_p.L738S|EML5_ENST00000554922.1_Missense_Mutation_p.L738S			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	738						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.L738S(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTAGTCTTTCAAAGGATGAAT	0.388																																						ENST00000554922.1																			2	Substitution - Missense(2)	p.L738S(2)	prostate(2)	breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2212-2214)tTg>tCg		echinoderm microtubule associated protein like 5							90.0	83.0	85.0					14																	89168815		1887	4106	5993	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89168815A>G	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2213T>C	14.37:g.89168815A>G	ENSP00000370039:p.Leu738Ser					EML5_ENST00000380664.5_Missense_Mutation_p.L738S|EML5_ENST00000352093.5_Missense_Mutation_p.L738S	p.L738S	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN			14	2461	-			738					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.2213T>C	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.114102	0.37339	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.38077	1.16;2.42;1.16	5.27	5.27	0.74061	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.239529	0.25872	N	0.027751	T	0.30541	0.0768	N	0.03891	-0.335	0.37096	D	0.899673	P	0.39131	0.661	P	0.54100	0.742	T	0.38499	-0.9658	10	0.15066	T	0.55	-3.2656	15.0104	0.71545	1.0:0.0:0.0:0.0	.	738	Q05BV3	EMAL5_HUMAN	S	738	ENSP00000451998:L738S;ENSP00000298315:L738S;ENSP00000370039:L738S	ENSP00000298315:L738S	L	-	2	0	EML5	88238568	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	6.964000	0.76061	2.200000	0.70718	0.455000	0.32223	TTG		0.388	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			8	58	8	58	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51750826	51750826	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:51750826T>C	ENST00000251076.5	-	35	8298		c.e35-2		DMXL2_ENST00000543779.2_Splice_Site|RP11-707P17.2_ENST00000560727.1_RNA|DMXL2_ENST00000449909.3_Splice_Site|RP11-707P17.2_ENST00000559977.1_RNA|RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.?(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACAATTTGCCTATAAAGCAAA	0.348																																						ENST00000251076.5																			1	Unknown(1)	p.?(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.e35-2		Dmx-like 2							110.0	103.0	105.0					15																	51750826		2196	4293	6489	SO:0001630	splice_region_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51750826T>C	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.8011-2A>G	15.37:g.51750826T>C						RP11-707P17.1_ENST00000561007.1_RNA|RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000449909.3_Splice_Site|RP11-707P17.2_ENST00000560727.1_RNA|RP11-707P17.2_ENST00000559173.1_RNA|DMXL2_ENST00000543779.2_Splice_Site		NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	35	8298	-								B2RTR3|B7ZMH3|F5GWF1|O94938	Splice_Site	SNP	ENST00000251076.5	37		CCDS10141.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.045641	0.75846	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMXL2	49538118	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	5.881000	0.69706	2.367000	0.80283	0.528000	0.53228	.		0.348	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	Intron	32	79	32	79	---	---	---	---
UACA	55075	broad.mit.edu	37	15	70960502	70960502	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:70960502T>C	ENST00000322954.6	-	16	2706	c.2521A>G	c.(2521-2523)Ata>Gta	p.I841V	UACA_ENST00000379983.2_Missense_Mutation_p.I828V|UACA_ENST00000560441.1_Missense_Mutation_p.I826V|UACA_ENST00000539319.1_Missense_Mutation_p.I732V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	841					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.I828V(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGAGCGTGTATTTTCTCCTGG	0.348																																						ENST00000322954.6																			1	Substitution - Missense(1)	p.I828V(1)	prostate(1)	breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						c.(2521-2523)Ata>Gta		uveal autoantigen with coiled-coil domains and ankyrin repeats							134.0	130.0	131.0					15																	70960502		2199	4298	6497	SO:0001583	missense	55075					cytoskeleton|extracellular region		g.chr15:70960502T>C	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.2521A>G	15.37:g.70960502T>C	ENSP00000314556:p.Ile841Val					UACA_ENST00000379983.2_Missense_Mutation_p.I828V|UACA_ENST00000560441.1_Missense_Mutation_p.I826V|UACA_ENST00000539319.1_Missense_Mutation_p.I732V	p.I841V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN			16	2706	-			841					G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	ENST00000322954.6	37	c.2521A>G	CCDS10235.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.989495	0.00439	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.77489	-1.1;-1.1;-1.1	5.65	-3.36	0.04913	.	0.447721	0.23204	N	0.050760	T	0.53594	0.1806	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.001;0.001;0.002	T	0.48937	-0.8990	10	0.02654	T	1	-17.1828	8.7907	0.34848	0.1074:0.5208:0.0:0.3718	.	732;841;841;828	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	V	841;828;732	ENSP00000314556:I841V;ENSP00000369319:I828V;ENSP00000438667:I732V	ENSP00000314556:I841V	I	-	1	0	UACA	68747556	0.296000	0.24398	0.012000	0.15200	0.187000	0.23431	0.774000	0.26675	-0.289000	0.09038	-0.274000	0.10170	ATA		0.348	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			38	162	38	162	---	---	---	---
LRRC49	54839	broad.mit.edu	37	15	71305231	71305231	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:71305231T>C	ENST00000260382.5	+	14	1942	c.1682T>C	c.(1681-1683)aTt>aCt	p.I561T	LRRC49_ENST00000560691.1_Missense_Mutation_p.I267T|LRRC49_ENST00000560369.1_Missense_Mutation_p.I566T|LRRC49_ENST00000544974.2_Missense_Mutation_p.I551T|LRRC49_ENST00000443425.2_Missense_Mutation_p.I517T|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Missense_Mutation_p.I249T	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	561						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.I561T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TATCGTCTGATTTCCATTCTG	0.373																																						ENST00000260382.5																			1	Substitution - Missense(1)	p.I561T(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						c.(1681-1683)aTt>aCt		leucine rich repeat containing 49							173.0	158.0	163.0					15																	71305231		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71305231T>C		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1682T>C	15.37:g.71305231T>C	ENSP00000260382:p.Ile561Thr					LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.I566T|LRRC49_ENST00000560691.1_Missense_Mutation_p.I267T|LRRC49_ENST00000560158.2_Missense_Mutation_p.I249T|LRRC49_ENST00000443425.2_Missense_Mutation_p.I517T|LRRC49_ENST00000544974.2_Missense_Mutation_p.I551T	p.I561T	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN			14	1942	+			561					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1682T>C	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.232247	0.39498	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.33865	1.39;1.4;1.39	5.47	5.47	0.80525	.	0.126375	0.53938	D	0.000046	T	0.24431	0.0592	N	0.22421	0.69	0.32052	N	0.596813	B;B;P;B;B	0.34800	0.144;0.332;0.469;0.224;0.152	B;B;B;B;B	0.35510	0.065;0.204;0.204;0.101;0.107	T	0.32241	-0.9914	10	0.39692	T	0.17	-20.0826	8.9002	0.35490	0.1663:0.0:0.0:0.8337	.	566;533;517;561;551	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	T	551;561;517;533	ENSP00000439600:I551T;ENSP00000260382:I561T;ENSP00000414065:I517T	ENSP00000260382:I561T	I	+	2	0	LRRC49	69092285	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	5.082000	0.64450	2.068000	0.61886	0.454000	0.30748	ATT		0.373	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3	NM_017691		44	146	44	146	---	---	---	---
ZNF629	23361	broad.mit.edu	37	16	30794780	30794780	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr16:30794780T>C	ENST00000262525.4	-	3	1076	c.869A>G	c.(868-870)tAc>tGc	p.Y290C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y290C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGGGCACTTGTAGGGTTTCTC	0.647																																						ENST00000262525.4																			1	Substitution - Missense(1)	p.Y290C(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(868-870)tAc>tGc		zinc finger protein 629							72.0	80.0	77.0					16																	30794780		2185	4295	6480	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794780T>C	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.869A>G	16.37:g.30794780T>C	ENSP00000262525:p.Tyr290Cys						p.Y290C	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1076	-			290					Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.869A>G	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.071094	0.55646	.	.	ENSG00000102870	ENST00000262525	T	0.25414	1.8	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41294	D	0.000918	T	0.52175	0.1718	M	0.83223	2.63	0.41963	D	0.990717	D	0.89917	1.0	D	0.91635	0.999	T	0.58679	-0.7594	10	0.72032	D	0.01	-51.7336	10.4846	0.44713	0.1455:0.0:0.0:0.8545	.	290	Q9UEG4	ZN629_HUMAN	C	290	ENSP00000262525:Y290C	ENSP00000262525:Y290C	Y	-	2	0	ZNF629	30702281	0.819000	0.29175	1.000000	0.80357	0.993000	0.82548	0.236000	0.17967	2.125000	0.65367	0.459000	0.35465	TAC		0.647	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		3	70	3	70	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	15995320	15995320	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:15995320G>A	ENST00000268712.3	-	22	3130	c.2873C>T	c.(2872-2874)gCt>gTt	p.A958V	NCOR1_ENST00000395848.1_Missense_Mutation_p.A865V|NCOR1_ENST00000395851.1_Missense_Mutation_p.A974V	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	958					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.A958V(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGGTAGAGAGCATAGCCGCT	0.428																																						ENST00000268712.3																			1	Substitution - Missense(1)	p.A958V(1)	prostate(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(2872-2874)gCt>gTt		nuclear receptor corepressor 1							128.0	124.0	126.0					17																	15995320		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15995320G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2873C>T	17.37:g.15995320G>A	ENSP00000268712:p.Ala958Val					NCOR1_ENST00000395848.1_Missense_Mutation_p.A865V|NCOR1_ENST00000395851.1_Missense_Mutation_p.A974V	p.A958V	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	22	3130	-			958					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.2873C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306658	0.95629	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395848	T;T;T	0.37235	1.21;1.21;1.21	5.56	5.56	0.83823	.	0.152735	0.64402	D	0.000015	T	0.50514	0.1620	L	0.40543	1.245	0.80722	D	1	D;P;D	0.71674	0.998;0.952;0.971	P;P;P	0.61658	0.892;0.612;0.783	T	0.49532	-0.8930	10	0.66056	D	0.02	-9.0983	18.519	0.90944	0.0:0.0:1.0:0.0	.	865;958;974	E9PGV6;O75376;O75376-2	.;NCOR1_HUMAN;.	V	958;974;865;865	ENSP00000268712:A958V;ENSP00000379192:A974V;ENSP00000379189:A865V	ENSP00000268712:A958V	A	-	2	0	NCOR1	15936045	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	8.922000	0.92789	2.601000	0.87937	0.650000	0.86243	GCT		0.428	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		4	166	4	166	---	---	---	---
UBB	7314	broad.mit.edu	37	17	16285790	16285790	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:16285790C>A	ENST00000395837.1	+	2	750	c.569C>A	c.(568-570)cCc>cAc	p.P190H	UBB_ENST00000395839.1_Missense_Mutation_p.P190H|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000302182.3_Missense_Mutation_p.P190H|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Missense_Mutation_p.P114H	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	190	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.P190H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		GGCATCCCCCCCGACCAGCAG	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			1	Substitution - Missense(1)	p.P190H(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(568-570)cCc>cAc		ubiquitin B							53.0	58.0	56.0					17																	16285790		2203	4297	6500	SO:0001583	missense	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285790C>A		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.569C>A	17.37:g.16285790C>A	ENSP00000379178:p.Pro190His					RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Missense_Mutation_p.P190H|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Missense_Mutation_p.P114H|UBB_ENST00000395839.1_Missense_Mutation_p.P190H	p.P190H	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	961	+			190			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000395837.1	37	c.569C>A	CCDS11177.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.552887	0.45487	.	.	ENSG00000170315	ENST00000302182;ENST00000535788;ENST00000395839;ENST00000395837	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	3.83	3.83	0.44106	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.51477	U	0.000082	D	0.87896	0.6293	M	0.93720	3.45	0.80722	D	1	P	0.46784	0.884	P	0.58620	0.842	D	0.91468	0.5194	10	0.87932	D	0	.	15.1539	0.72723	0.0:1.0:0.0:0.0	.	190	P0CG47	UBB_HUMAN	H	190;114;190;190	ENSP00000304697:P190H;ENSP00000437475:P114H;ENSP00000379180:P190H;ENSP00000379178:P190H	ENSP00000304697:P190H	P	+	2	0	UBB	16226515	1.000000	0.71417	0.854000	0.33618	0.799000	0.45148	7.258000	0.78371	1.886000	0.54624	0.549000	0.68633	CCC		0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		3	80	3	80	---	---	---	---
HOXB13	10481	broad.mit.edu	37	17	46804355	46804355	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:46804355T>C	ENST00000290295.7	-	2	1236	c.652A>G	c.(652-654)Aag>Gag	p.K218E	PRAC2_ENST00000422730.2_RNA|PRAC2_ENST00000432056.1_RNA|MIR3185_ENST00000583892.1_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	218					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)	p.K218E(1)		endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						ATGCGTTTCTTGCGGCCGCGA	0.622																																						ENST00000290295.7																			1	Substitution - Missense(1)	p.K218E(1)	prostate(1)	endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						c.(652-654)Aag>Gag		homeobox B13							68.0	65.0	66.0					17																	46804355		2203	4300	6503	SO:0001583	missense	10481				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46804355T>C	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"""Homeoboxes / ANTP class : HOXL subclass"""	5112	protein-coding gene	gene with protein product		604607	"""homeo box B13"""			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.652A>G	17.37:g.46804355T>C	ENSP00000290295:p.Lys218Glu						p.K218E	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN			2	1236	-			218					B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	ENST00000290295.7	37	c.652A>G	CCDS11536.1	.	.	.	.	.	.	.	.	.	.	T	35	5.423643	0.96111	.	.	ENSG00000159184	ENST00000290295	D	0.96967	-4.19	5.31	5.31	0.75309	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	H	0.95187	3.635	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.99748	1.1017	10	0.87932	D	0	.	15.0922	0.72204	0.0:0.0:0.0:1.0	.	218	Q92826	HXB13_HUMAN	E	218	ENSP00000290295:K218E	ENSP00000290295:K218E	K	-	1	0	HOXB13	44159354	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.868000	0.87116	2.243000	0.73865	0.533000	0.62120	AAG		0.622	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		20	67	20	67	---	---	---	---
SEC14L1	6397	broad.mit.edu	37	17	75205504	75205504	+	Silent	SNP	C	C	G			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:75205504C>G	ENST00000413679.2	+	14	1860	c.1557C>G	c.(1555-1557)ctC>ctG	p.L519L	SEC14L1_ENST00000431431.2_Silent_p.L485L|SEC14L1_ENST00000443798.4_Silent_p.L519L|SEC14L1_ENST00000392476.2_Silent_p.L519L|SEC14L1_ENST00000436233.4_Silent_p.L519L|SEC14L1_ENST00000430767.4_Silent_p.L519L|SEC14L1_ENST00000591437.1_Silent_p.L485L|SEC14L1_ENST00000585618.1_Silent_p.L519L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	519					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L519L(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						ACCTGAAGCTCTGGACTGAGA	0.587																																						ENST00000413679.2																			1	Substitution - coding silent(1)	p.L519L(1)	prostate(1)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						c.(1555-1557)ctC>ctG		SEC14-like 1 (S. cerevisiae)							84.0	69.0	74.0					17																	75205504		2203	4300	6503	SO:0001819	synonymous_variant	6397				transport	Golgi apparatus|integral to membrane	binding	g.chr17:75205504C>G	D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1557C>G	17.37:g.75205504C>G						SEC14L1_ENST00000591437.1_Silent_p.L485L|SEC14L1_ENST00000443798.4_Silent_p.L519L|SEC14L1_ENST00000392476.2_Silent_p.L519L|SEC14L1_ENST00000585618.1_Silent_p.L519L|SEC14L1_ENST00000436233.4_Silent_p.L519L|SEC14L1_ENST00000430767.4_Silent_p.L519L|SEC14L1_ENST00000431431.2_Silent_p.L485L	p.L519L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN			14	1860	+			519					A8K4E8|B4DDI5|D5G3K1|Q99780	Silent	SNP	ENST00000413679.2	37	c.1557C>G	CCDS11752.1																																																																																				0.587	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1	NM_003003		9	30	9	30	---	---	---	---
ZNF492	57615	broad.mit.edu	37	19	22836775	22836775	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:22836775C>T	ENST00000456783.2	+	3	332	c.88C>T	c.(88-90)Cct>Tct	p.P30S		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	30	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P30S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AGGAAAAGAACCTTGGAATGT	0.423																																						ENST00000456783.2																			1	Substitution - Missense(1)	p.P30S(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(88-90)Cct>Tct		zinc finger protein 492							97.0	111.0	106.0					19																	22836775		2201	4298	6499	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22836775C>T	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.88C>T	19.37:g.22836775C>T	ENSP00000413660:p.Pro30Ser						p.P30S	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN			3	332	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	30			KRAB.		Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.88C>T	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	9.814	1.184047	0.21870	.	.	ENSG00000229676	ENST00000456783	T	0.10573	2.86	0.458	0.458	0.16670	Krueppel-associated box (2);	.	.	.	.	T	0.28830	0.0715	M	0.84219	2.685	0.09310	N	1	D	0.71674	0.998	D	0.65010	0.931	T	0.04796	-1.0926	8	0.52906	T	0.07	.	.	.	.	.	30	Q9P255	ZN492_HUMAN	S	30	ENSP00000413660:P30S	ENSP00000413660:P30S	P	+	1	0	ZNF492	22628615	0.674000	0.27549	0.100000	0.21137	0.091000	0.18340	1.166000	0.31834	0.482000	0.27582	0.484000	0.47621	CCT		0.423	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855		42	102	42	102	---	---	---	---
CEACAM6	4680	broad.mit.edu	37	19	42260828	42260828	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:42260828C>A	ENST00000199764.6	+	2	603	c.385C>A	c.(385-387)Ctt>Att	p.L129I	CEA_ENST00000598976.1_Intron|AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	129	Ig-like V-type.				cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L129I(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AAAGTCAGATCTTGTGAATGA	0.473																																						ENST00000199764.6																			1	Substitution - Missense(1)	p.L129I(1)	prostate(1)	breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(385-387)Ctt>Att		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							294.0	288.0	290.0					19																	42260828		2203	4300	6503	SO:0001583	missense	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42260828C>A	M29541	CCDS12585.1	19q13.1-q13.2	2013-01-29			ENSG00000086548	ENSG00000086548		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1818	protein-coding gene	gene with protein product		163980		NCA			Standard	NM_002483		Approved	CD66c	uc002orm.2	P40199	OTTHUMG00000151064	ENST00000199764.6:c.385C>A	19.37:g.42260828C>A	ENSP00000199764:p.Leu129Ile					CEA_ENST00000598976.1_Intron	p.L129I	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)	2	603	+			129			Ig-like V-type.		Q13774|Q14920|Q53XP7	Missense_Mutation	SNP	ENST00000199764.6	37	c.385C>A	CCDS12585.1	.	.	.	.	.	.	.	.	.	.	C	7.969	0.748690	0.15710	.	.	ENSG00000086548	ENST00000199764	T	0.01584	4.75	2.15	1.06	0.20224	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.07143	0.0181	M	0.83312	2.635	0.09310	N	1	P	0.44090	0.826	D	0.63113	0.911	T	0.27157	-1.0082	9	0.22706	T	0.39	.	3.9981	0.09568	0.0:0.2285:0.0:0.7715	.	129	P40199	CEAM6_HUMAN	I	129	ENSP00000199764:L129I	ENSP00000199764:L129I	L	+	1	0	CEACAM6	46952668	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-1.630000	0.02028	0.077000	0.16863	0.305000	0.20034	CTT		0.473	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			6	480	6	480	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99551705	99551705	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chrX:99551705T>C	ENST00000373034.4	-	6	4692	c.3017A>G	c.(3016-3018)gAc>gGc	p.D1006G	PCDH19_ENST00000464981.1_5'Flank|PCDH19_ENST00000255531.7_Missense_Mutation_p.D959G|PCDH19_ENST00000420881.2_Missense_Mutation_p.D958G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1006					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1006G(1)|p.D459G(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCCGCAGTCGTCATAAGCCTC	0.577																																						ENST00000373034.4																			2	Substitution - Missense(2)	p.D1006G(1)|p.D459G(1)	prostate(2)	breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(3016-3018)gAc>gGc		protocadherin 19							80.0	79.0	80.0					X																	99551705		2114	4216	6330	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99551705T>C	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.3017A>G	X.37:g.99551705T>C	ENSP00000362125:p.Asp1006Gly					PCDH19_ENST00000420881.2_Missense_Mutation_p.D958G|PCDH19_ENST00000255531.7_Missense_Mutation_p.D959G	p.D1006G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN			6	4692	-			1006					B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.3017A>G	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.717523	0.30413	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.52526	0.66;0.7;0.66	5.84	4.67	0.58626	.	0.253268	0.41294	D	0.000916	T	0.24314	0.0589	N	0.04508	-0.205	0.38485	D	0.947821	B;B;B	0.23442	0.085;0.0;0.0	B;B;B	0.19666	0.026;0.0;0.0	T	0.08229	-1.0732	10	0.49607	T	0.09	.	7.8359	0.29369	0.0:0.0754:0.1456:0.779	.	1006;959;958	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	G	958;1006;959	ENSP00000400327:D958G;ENSP00000362125:D1006G;ENSP00000255531:D959G	ENSP00000255531:D959G	D	-	2	0	PCDH19	99438361	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	4.769000	0.62300	0.825000	0.34637	0.486000	0.48141	GAC		0.577	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		3	52	3	52	---	---	---	---
MT-CO1	4512	broad.mit.edu	37	M	3031	3031	+	5'Flank	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chrM:3031G>A	ENST00000361624.2	+	0	0				MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TY_ENST00000387409.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GCCGCTATTAAAGGTTCGTTT	0.448																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	100616263							g.chrM:3031G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3031G>A	Exception_encountered							NR_039705.1						0	1361	+								Q34770	RNA	SNP	ENST00000361624.2	37																																																																																						0.448	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		4	0	4	0	---	---	---	---
MT-CO2	4513	broad.mit.edu	37	M	7854	7854	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chrM:7854T>C	ENST00000361739.1	+	1	269	c.269T>C	c.(268-270)gTc>gCc	p.V90A	MT-TN_ENST00000387400.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TY_ENST00000387409.1_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	90					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						AACAGACGAGGTCAACGATCC	0.498																																						ENST00000361739.1																			0				endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						c.(268-270)gTc>gCc		mitochondrially encoded cytochrome c oxidase II																																				SO:0001583	missense	4513							g.chrM:7854T>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.269T>C	M.37:g.7854T>C	ENSP00000354876:p.Val90Ala						p.V90A							1	269	+								Q37526	Missense_Mutation	SNP	ENST00000361739.1	37	c.269T>C																																																																																					0.498	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024029		4	2	4	2	---	---	---	---
SCAMP1	9522	broad.mit.edu	37	5	77755186	77755186	+	Splice_Site	DEL	G	G	-			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr5:77755186delG	ENST00000339292.4	+	8	940		c.e8+1		SCAMP1_ENST00000538629.1_Splice_Site			O15126	SCAM1_HUMAN	secretory carrier membrane protein 1						endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		GTTCAAAAAAGTAAGTGAAAT	0.323																																						ENST00000538629.1																			0											c.e8+1		secretory carrier membrane protein 1							51.0	45.0	47.0					5																	77755186		1844	4089	5933	SO:0001630	splice_region_variant	9522				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding	g.chr5:77755186delG	AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"""Secretory carrier membrane proteins"""	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000339292.4:c.940+1G>-	5.37:g.77755186delG						SCAMP1_ENST00000339292.4_Splice_Site		NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)	8	1009	+		all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)						O43587|Q6FG23|Q96BX1|Q96QK5	Splice_Site	DEL	ENST00000339292.4	37																																																																																						0.323	SCAMP1-001	KNOWN	sequence_error|basic|exp_conf	processed_transcript	protein_coding	OTTHUMT00000369096.2	NM_004866	Intron	8	18	8	18	---	---	---	---
CDKN1B	1027	broad.mit.edu	37	12	12870993	12870994	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr12:12870993_12870994insA	ENST00000228872.4	+	1	936_937	c.220_221insA	c.(220-222)tacfs	p.Y74fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.Y74fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	74					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		AGAGGGCAAGTACGAGTGGCAA	0.589																																						ENST00000228872.4																			0				breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13						c.(220-222)tacfs		cyclin-dependent kinase inhibitor 1B (p27, Kip1)																																				SO:0001589	frameshift_variant	1027				autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	g.chr12:12870993_12870994insA	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.221dupA	12.37:g.12870994_12870994dupA	ENSP00000228872:p.Tyr74fs					CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.Y74fs	p.Y74fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.0336)	1	936_937	+		Prostate(47;0.0322)|all_epithelial(100;0.159)	74					Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Ins	INS	ENST00000228872.4	37	c.220_221insA	CCDS8653.1																																																																																				0.589	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064		49	50	49	50	---	---	---	---
