#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CDK19	23097	broad.mit.edu	37	6	110935826	110935826	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:110935826G>A	ENST00000368911.3	-	13	1600	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F	CDK19_ENST00000413605.2_Missense_Mutation_p.S350F|CDK19_ENST00000323817.3_Missense_Mutation_p.S414F	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	474	Ser-rich.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GGACTGAGAGGATCCCTGAAC	0.532																																						ENST00000368911.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						c.(1420-1422)tCc>tTc		cyclin-dependent kinase 19							156.0	137.0	143.0					6																	110935826		2203	4300	6503	SO:0001583	missense	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110935826G>A	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.1421C>T	6.37:g.110935826G>A	ENSP00000357907:p.Ser474Phe					CDK19_ENST00000413605.2_Missense_Mutation_p.S350F|CDK19_ENST00000323817.3_Missense_Mutation_p.S414F	p.S474F	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN			13	1600	-			474			Ser-rich.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	c.1421C>T	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.305046	0.40795	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605	T;T;T	0.30182	1.54;1.54;1.54	5.78	4.91	0.64330	.	0.047783	0.85682	D	0.000000	T	0.23289	0.0563	L	0.51422	1.61	0.58432	D	0.999993	P;P	0.52842	0.924;0.956	B;P	0.44732	0.44;0.459	T	0.05115	-1.0905	10	0.66056	D	0.02	-1.0055	16.6498	0.85186	0.0:0.0:0.8691:0.1309	.	350;474	B4DUB1;Q9BWU1	.;CDK19_HUMAN	F	474;414;413;350	ENSP00000357907:S474F;ENSP00000317665:S414F;ENSP00000410604:S350F	ENSP00000317665:S414F	S	-	2	0	CDK19	111042519	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.420000	0.97426	1.574000	0.49760	0.591000	0.81541	TCC		0.532	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		12	37	0	0	0	1	0	12	37				
MRPL23	6150	broad.mit.edu	37	11	1977596	1977596	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr11:1977596G>C	ENST00000397298.3	+	5	493	c.408G>C	c.(406-408)caG>caC	p.Q136H	MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381519.1_Missense_Mutation_p.Q136H|MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000381514.3_Intron	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	136					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGAGGCAGCAGAGGCAGAGCA	0.677																																						ENST00000397298.3																			0				large_intestine(2)|lung(1)|ovary(1)	4						c.(406-408)caG>caC		mitochondrial ribosomal protein L23							49.0	49.0	49.0					11																	1977596		2202	4299	6501	SO:0001583	missense	6150				translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome	g.chr11:1977596G>C	AB051340	CCDS31336.1	11p15.5	2012-09-13			ENSG00000214026	ENSG00000214026		"""Mitochondrial ribosomal proteins / large subunits"""	10322	protein-coding gene	gene with protein product		600789		RPL23L		8541832	Standard	NM_021134		Approved	L23MRP	uc001lux.3	Q16540	OTTHUMG00000012476	ENST00000397298.3:c.408G>C	11.37:g.1977596G>C	ENSP00000380466:p.Gln136His					MRPL23_ENST00000381514.3_Intron|MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381519.1_Missense_Mutation_p.Q136H	p.Q136H	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)	5	493	+		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	136					A8MT29|Q96Q71	Missense_Mutation	SNP	ENST00000397298.3	37	c.408G>C	CCDS31336.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759181	0.31137	.	.	ENSG00000214026	ENST00000397298;ENST00000381519	T;T	0.15139	2.45;2.45	4.42	2.53	0.30540	.	.	.	.	.	T	0.17492	0.0420	L	0.54323	1.7	0.80722	D	1	P	0.44478	0.836	B	0.44224	0.444	T	0.03619	-1.1019	9	0.26408	T	0.33	.	8.1153	0.30940	0.2745:0.0:0.7255:0.0	.	136	Q16540	RM23_HUMAN	H	136	ENSP00000380466:Q136H;ENSP00000370930:Q136H	ENSP00000370930:Q136H	Q	+	3	2	MRPL23	1934172	1.000000	0.71417	0.000000	0.03702	0.012000	0.07955	3.615000	0.54167	0.432000	0.26286	0.561000	0.74099	CAG		0.677	MRPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034765.2	NM_021134		6	65	0	0	0	1	0	6	65				
SNTG1	54212	broad.mit.edu	37	8	51503438	51503438	+	Splice_Site	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr8:51503438G>C	ENST00000522124.1	+	13	1471		c.e13-1		SNTG1_ENST00000518864.1_Splice_Site|SNTG1_ENST00000276467.5_Splice_Site|SNTG1_ENST00000517473.1_Splice_Site	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TATCATTGCAGATTAAAAAAA	0.269																																						ENST00000522124.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66						c.e13-1		syntrophin, gamma 1							17.0	19.0	18.0					8																	51503438		2181	4249	6430	SO:0001630	splice_region_variant	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51503438G>C	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.811-1G>C	8.37:g.51503438G>C						SNTG1_ENST00000518864.1_Splice_Site|SNTG1_ENST00000517473.1_Splice_Site|SNTG1_ENST00000276467.5_Splice_Site		NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN			13	1471	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)						Q2M3Q0|Q9NY98	Splice_Site	SNP	ENST00000522124.1	37		CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174973	0.57692	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3371	0.60524	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNTG1	51665991	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.238000	0.51352	2.205000	0.71048	0.650000	0.86243	.		0.269	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1		Intron	3	13	0	0	0	1	0	3	13				
VPS13C	54832	broad.mit.edu	37	15	62257047	62257047	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr15:62257047G>C	ENST00000261517.5	-	31	3138	c.3065C>G	c.(3064-3066)tCt>tGt	p.S1022C	VPS13C_ENST00000395896.4_Missense_Mutation_p.S1022C|VPS13C_ENST00000395898.3_Missense_Mutation_p.S979C|VPS13C_ENST00000249837.3_Missense_Mutation_p.S979C	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CAGATTTAAAGATGAAAAGGC	0.378																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3064-3066)tCt>tGt		vacuolar protein sorting 13 homolog C (S. cerevisiae)							72.0	77.0	75.0					15																	62257047		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62257047G>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3065C>G	15.37:g.62257047G>C	ENSP00000261517:p.Ser1022Cys					VPS13C_ENST00000249837.3_Missense_Mutation_p.S979C|VPS13C_ENST00000395896.4_Missense_Mutation_p.S1022C|VPS13C_ENST00000395898.3_Missense_Mutation_p.S979C	p.S1022C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			31	3138	-			1022						Missense_Mutation	SNP	ENST00000261517.5	37	c.3065C>G	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550237	0.86127	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.22134	1.97;1.97;1.97	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	M	0.79926	2.475	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;0.982	D;D;D;P	0.76575	0.974;0.974;0.988;0.826	T	0.44298	-0.9337	10	0.46703	T	0.11	.	20.2348	0.98355	0.0:0.0:1.0:0.0	.	979;1022;979;1022	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	C	979;1022;1022;1022	ENSP00000249837:S979C;ENSP00000261517:S1022C;ENSP00000379233:S1022C	ENSP00000249837:S979C	S	-	2	0	VPS13C	60044339	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.012000	0.70767	2.880000	0.98712	0.650000	0.86243	TCT		0.378	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		10	82	0	0	0	1	0	10	82				
MTA3	57504	broad.mit.edu	37	2	42935134	42935134	+	Silent	SNP	A	A	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr2:42935134A>T	ENST00000405094.1	+	13	1242	c.1242A>T	c.(1240-1242)ggA>ggT	p.G414G	MTA3_ENST00000406911.1_Silent_p.G413G|MTA3_ENST00000405592.1_Silent_p.G357G|MTA3_ENST00000406652.1_Silent_p.G357G|MTA3_ENST00000407270.3_Silent_p.G414G|MTA3_ENST00000472767.1_3'UTR			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	414						intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						AAAAATATGGAGGCTTGAAAA	0.408																																						ENST00000405592.1																			0				endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						c.(1069-1071)ggA>ggT		metastasis associated 1 family, member 3							106.0	104.0	104.0					2																	42935134		1829	4083	5912	SO:0001819	synonymous_variant	57504					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:42935134A>T	AB033092	CCDS46267.1, CCDS62900.1	2p22.1	2013-01-25	2004-12-15		ENSG00000057935	ENSG00000057935		"""GATA zinc finger domain containing"""	23784	protein-coding gene	gene with protein product		609050	"""metastasis associated gene family, member 3"""			12705869, 14613024	Standard	NM_001282755		Approved	KIAA1266	uc002rsq.3	Q9BTC8	OTTHUMG00000150452	ENST00000405094.1:c.1242A>T	2.37:g.42935134A>T						MTA3_ENST00000407270.3_Silent_p.G414G|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000406911.1_Silent_p.G413G|MTA3_ENST00000405094.1_Silent_p.G414G|MTA3_ENST00000406652.1_Silent_p.G357G	p.G357G			Q9BTC8	MTA3_HUMAN			14	1741	+			414					Q9NSP2|Q9ULF4	Silent	SNP	ENST00000405094.1	37	c.1071A>T																																																																																					0.408	MTA3-017	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000318159.1	NM_020744		9	57	0	0	0	1	0	9	57				
ZNF616	90317	broad.mit.edu	37	19	52618995	52618995	+	Silent	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:52618995G>A	ENST00000600228.1	-	4	1683	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	474					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)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AATGTATGCTGAAAACTTTGC	0.413																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1420-1422)ttC>ttT		zinc finger protein 616							123.0	111.0	115.0					19																	52618995		2203	4300	6503	SO:0001819	synonymous_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618995G>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1422C>T	19.37:g.52618995G>A						ZNF616_ENST00000330123.5_3'UTR	p.F474F	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1683	-			474					B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	c.1422C>T	CCDS33090.1																																																																																				0.413	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		19	145	0	0	0	1	0	19	145				
AHNAK	79026	broad.mit.edu	37	11	62290779	62290779	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr11:62290779C>G	ENST00000378024.4	-	5	11384	c.11110G>C	c.(11110-11112)Gag>Cag	p.E3704Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3704					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGTCCACCTCAGGGCCTTTT	0.473																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(11110-11112)Gag>Cag		AHNAK nucleoprotein							160.0	166.0	164.0					11																	62290779		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290779C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11110G>C	11.37:g.62290779C>G	ENSP00000367263:p.Glu3704Gln					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.E3704Q	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	11384	-		Melanoma(852;0.155)	3704					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.11110G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	8.872	0.949543	0.18356	.	.	ENSG00000124942	ENST00000378024	T	0.00711	5.8	4.74	3.82	0.43975	.	1.766790	0.03483	N	0.215402	T	0.02929	0.0087	M	0.88704	2.975	0.09310	N	1	B	0.16396	0.017	B	0.16289	0.015	T	0.60974	-0.7156	10	0.40728	T	0.16	.	15.0378	0.71764	0.0:0.857:0.143:0.0	.	3704	Q09666	AHNK_HUMAN	Q	3704	ENSP00000367263:E3704Q	ENSP00000367263:E3704Q	E	-	1	0	AHNAK	62047355	0.000000	0.05858	0.054000	0.19295	0.002000	0.02628	-0.096000	0.11059	1.092000	0.41356	0.453000	0.30009	GAG		0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		20	231	0	0	0	1	0	20	231				
LRP1B	53353	broad.mit.edu	37	2	141259405	141259405	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr2:141259405C>A	ENST00000389484.3	-	55	9672	c.8701G>T	c.(8701-8703)Ggc>Tgc	p.G2901C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2901	LDL-receptor class A 20. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGCACCTGCCATTTTTGCAC	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(8701-8703)Ggc>Tgc		low density lipoprotein receptor-related protein 1B							48.0	47.0	48.0					2																	141259405		2203	4298	6501	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141259405C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8701G>T	2.37:g.141259405C>A	ENSP00000374135:p.Gly2901Cys	TSP Lung(27;0.18)					p.G2901C	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	55	9672	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2901			LDL-receptor class A 20.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8701G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	33	5.239444	0.95240	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96522	-4.04	5.86	5.86	0.93980	Growth factor, receptor (1);	0.000000	0.85682	U	0.000000	D	0.99013	0.9663	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98805	1.0741	10	0.54805	T	0.06	.	20.1739	0.98173	0.0:1.0:0.0:0.0	.	2901	Q9NZR2	LRP1B_HUMAN	C	2901;2839	ENSP00000374135:G2901C	ENSP00000374135:G2901C	G	-	1	0	LRP1B	140975875	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.988000	0.70579	2.774000	0.95407	0.585000	0.79938	GGC		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	57	1	0	0.00024832	1	0.000257603	4	57				
HERC1	8925	broad.mit.edu	37	15	64010891	64010891	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr15:64010891T>C	ENST00000443617.2	-	21	3947	c.3860A>G	c.(3859-3861)tAt>tGt	p.Y1287C		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1287					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACCAGGTTGATATCTAAATGA	0.353																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(3859-3861)tAt>tGt		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							72.0	62.0	65.0					15																	64010891		1831	4091	5922	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64010891T>C	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3860A>G	15.37:g.64010891T>C	ENSP00000390158:p.Tyr1287Cys						p.Y1287C	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			21	3947	-			1287					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.3860A>G	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.637102	0.67130	.	.	ENSG00000103657	ENST00000443617	T	0.03717	3.83	5.5	5.5	0.81552	.	0.000000	0.64402	U	0.000004	T	0.10766	0.0263	L	0.50333	1.59	0.58432	D	0.999999	D	0.69078	0.997	P	0.56865	0.808	T	0.01027	-1.1476	10	0.62326	D	0.03	.	14.1842	0.65595	0.0:0.0:0.0:1.0	.	1287	Q15751	HERC1_HUMAN	C	1287	ENSP00000390158:Y1287C	ENSP00000390158:Y1287C	Y	-	2	0	HERC1	61797944	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.917000	0.69989	2.084000	0.62774	0.533000	0.62120	TAT		0.353	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		7	35	0	0	0	1	0	7	35				
WNK1	65125	broad.mit.edu	37	12	994643	994643	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr12:994643C>G	ENST00000315939.6	+	19	5316	c.4673C>G	c.(4672-4674)tCt>tGt	p.S1558C	WNK1_ENST00000530271.2_Missense_Mutation_p.S2056C|WNK1_ENST00000535572.1_Missense_Mutation_p.S1311C|WNK1_ENST00000340908.4_Missense_Mutation_p.S1151C|WNK1_ENST00000537687.1_Missense_Mutation_p.S1818C	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1558					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCAGGAGTGTCTAGTTATATT	0.483																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(5452-5454)tCt>tGt		WNK lysine deficient protein kinase 1							325.0	297.0	307.0					12																	994643		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994643C>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4673C>G	12.37:g.994643C>G	ENSP00000313059:p.Ser1558Cys					WNK1_ENST00000530271.2_Missense_Mutation_p.S2056C|WNK1_ENST00000315939.6_Missense_Mutation_p.S1558C|WNK1_ENST00000535572.1_Missense_Mutation_p.S1311C|WNK1_ENST00000340908.4_Missense_Mutation_p.S1151C	p.S1818C	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	6096	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1558					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.5453C>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	6.964	0.547815	0.13312	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	5.0	4.07	0.47477	.	0.350251	0.25543	N	0.029960	T	0.42200	0.1192	L	0.41236	1.265	0.27362	N	0.955922	B;B;B	0.10296	0.003;0.001;0.001	B;B;B	0.14023	0.01;0.007;0.003	T	0.38972	-0.9636	10	0.52906	T	0.07	-2.1781	9.3757	0.38281	0.0:0.758:0.1539:0.0882	.	1311;1311;1558	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	C	1311;1558;1818;731;2056;1151	ENSP00000441972:S1311C;ENSP00000313059:S1558C;ENSP00000444465:S1818C;ENSP00000433548:S2056C;ENSP00000341292:S1151C	ENSP00000252477:S731C	S	+	2	0	WNK1	864904	0.992000	0.36948	0.839000	0.33178	0.063000	0.16089	1.801000	0.38843	1.377000	0.46286	0.655000	0.94253	TCT		0.483	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		89	409	0	0	0	1	0	89	409				
NOS1	4842	broad.mit.edu	37	12	117710243	117710243	+	Missense_Mutation	SNP	T	T	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr12:117710243T>A	ENST00000338101.4	-	9	1790	c.1786A>T	c.(1786-1788)Aca>Tca	p.T596S	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.T596S			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CCAATCTCTGTGCCCATGTAC	0.592																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1786-1788)Aca>Tca		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						63.0	72.0	69.0					12																	117710243		2198	4299	6497	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117710243T>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1786A>T	12.37:g.117710243T>A	ENSP00000337459:p.Thr596Ser					NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.T596S	p.T596S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	10	2471	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		596						Missense_Mutation	SNP	ENST00000338101.4	37	c.1786A>T	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	T	31	5.080021	0.94050	.	.	ENSG00000089250	ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.54866	0.55;0.55	4.85	4.85	0.62838	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	M	0.77406	2.37	0.80722	D	1	P	0.46064	0.872	P	0.49421	0.61	T	0.66874	-0.5813	10	0.44086	T	0.13	-18.9307	14.6302	0.68650	0.0:0.0:0.0:1.0	.	596	P29475	NOS1_HUMAN	S	596	ENSP00000320758:T596S;ENSP00000337459:T596S	ENSP00000320758:T596S	T	-	1	0	NOS1	116194626	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.868000	0.87116	2.035000	0.60131	0.533000	0.62120	ACA		0.592	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			13	57	0	0	0	1	0	13	57				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977358	29977358	+	RNA	SNP	T	T	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:29977358T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		GATTTGTTCATGCCTTCCCTT	0.448																																						ENST00000376797.3																			0																																																			80862							g.chr6:29977358T>C	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977358T>C						HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.448	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		6	45	0	0	0	1	0	6	45				
GNAS	2778	broad.mit.edu	37	20	57429935	57429935	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr20:57429935G>A	ENST00000371100.4	+	1	2167	c.1615G>A	c.(1615-1617)Gat>Aat	p.D539N	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.D539N|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.P475P|GNAS_ENST00000371102.4_Missense_Mutation_p.D539N|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCAGGCTGCCGATCCGCCTAC	0.726			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(1615-1617)Gat>Aat		GNAS complex locus							5.0	6.0	6.0					20																	57429935		1794	3839	5633	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57429935G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1615G>A	20.37:g.57429935G>A	ENSP00000360141:p.Asp539Asn	TSP Lung(22;0.16)				GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.D539N|GNAS_ENST00000371102.4_Missense_Mutation_p.D539N|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000306120.3_Silent_p.P475P	p.D539N	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	2167	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.1615G>A	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471775	0.84533	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.91295	-2.82;-2.81	4.75	3.78	0.43462	.	3.888680	0.01073	N	0.004848	D	0.90480	0.7018	L	0.55481	1.735	0.80722	D	1	D	0.61697	0.99	P	0.46885	0.53	D	0.84219	0.0460	10	0.39692	T	0.17	.	8.2025	0.31432	0.1097:0.0:0.8903:0.0	.	539	Q5JWF2	GNAS1_HUMAN	N	539	ENSP00000360141:D539N;ENSP00000360143:D539N	ENSP00000360140:D539N	D	+	1	0	GNAS	56863330	0.858000	0.29795	1.000000	0.80357	0.943000	0.58893	1.500000	0.35682	2.340000	0.79590	0.462000	0.41574	GAT		0.726	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		3	7	0	0	0	1	0	3	7				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			5	43	0	0	0	1	0	5	43				
SLITRK3	22865	broad.mit.edu	37	3	164908105	164908105	+	Silent	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr3:164908105G>A	ENST00000475390.1	-	2	957	c.514C>T	c.(514-516)Cta>Tta	p.L172L	SLITRK3_ENST00000241274.3_Silent_p.L172L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	172					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AATTTACTTAGGTTCCGAAAT	0.398										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(514-516)Cta>Tta		SLIT and NTRK-like family, member 3							72.0	70.0	70.0					3																	164908105		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164908105G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.514C>T	3.37:g.164908105G>A		HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Silent_p.L172L	p.L172L			O94933	SLIK3_HUMAN			2	957	-			172					Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.514C>T	CCDS3197.1																																																																																				0.398	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		21	68	0	0	0	1	0	21	68				
SPHK2	56848	broad.mit.edu	37	19	49129133	49129133	+	Intron	SNP	C	C	T	rs76628003	byFrequency	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:49129133C>T	ENST00000245222.4	+	3	405				SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000601712.1_Intron|SPHK2_ENST00000598088.1_Intron|AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000599029.1_5'UTR|AC022154.7_ENST00000594850.1_RNA|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000599748.1_Intron|SPHK2_ENST00000443164.1_Missense_Mutation_p.P71S	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2						blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CCCCTTCTCTCCTCCCTTCCC	0.677													C|||	45	0.00898562	0.0325	0.0029	5008	,	,		14582	0.0		0.0	False		,,,				2504	0.0					ENST00000443164.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(211-213)Cct>Tct		sphingosine kinase 2		C	,,,	110,4280		2,106,2087	11.0	13.0	13.0		,,,	3.2	0.0	19	dbSNP_132	13	1,8581		0,1,4290	no	intron,intron,intron,intron	SPHK2	NM_001204158.2,NM_001204159.2,NM_001204160.2,NM_020126.4	,,,	2,107,6377	TT,TC,CC		0.0117,2.5057,0.8557	,,,	,,,	49129133	111,12861	2195	4291	6486	SO:0001627	intron_variant	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49129133C>T	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.40-15C>T	19.37:g.49129133C>T						SPHK2_ENST00000245222.4_Intron|SPHK2_ENST00000601712.1_Intron|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000599748.1_Intron|SPHK2_ENST00000599029.1_5'UTR|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000598088.1_Intron	p.P71S			Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	1	916	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	451			Required for binding to sulfatide and phosphoinositides and for membrane localization.		A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	c.211C>T	CCDS12727.1	12	0.005494505494505495	11	0.022357723577235773	1	0.0027624309392265192	0	0.0	0	0.0	C	5.194	0.221270	0.09863	0.025057	1.17E-4	ENSG00000063176	ENST00000443164	T	0.35605	1.3	3.18	3.18	0.36537	.	.	.	.	.	T	0.10637	0.0260	.	.	.	0.19945	N	0.999942	B	0.13594	0.008	B	0.09377	0.004	T	0.09530	-1.0670	8	0.87932	D	0	.	10.1207	0.42618	0.0:1.0:0.0:0.0	.	71	A0T4C8	.	S	71	ENSP00000413369:P71S	ENSP00000413369:P71S	P	+	1	0	SPHK2	53820945	0.002000	0.14202	0.035000	0.18076	0.070000	0.16714	0.740000	0.26188	2.083000	0.62718	0.462000	0.41574	CCT		0.677	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			4	16	0	0	0	1	0	4	16				
PLCE1	51196	broad.mit.edu	37	10	96012146	96012146	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr10:96012146G>A	ENST00000371380.3	+	8	3405	c.3170G>A	c.(3169-3171)cGa>cAa	p.R1057Q	PLCE1_ENST00000371385.3_Missense_Mutation_p.R749Q|PLCE1_ENST00000260766.3_Missense_Mutation_p.R1057Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.R749Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1057					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGAGTGCTCGAAACCCCAGC	0.502																																						ENST00000260766.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(3169-3171)cGa>cAa		phospholipase C, epsilon 1							108.0	109.0	109.0					10																	96012146		2028	4183	6211	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96012146G>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3170G>A	10.37:g.96012146G>A	ENSP00000360431:p.Arg1057Gln					PLCE1_ENST00000371380.2_Missense_Mutation_p.R1057Q|PLCE1_ENST00000371385.3_Missense_Mutation_p.R749Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.R749Q	p.R1057Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN			9	3804	+		Colorectal(252;0.0458)	1057					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.3170G>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727607	0.89390	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.87	5.87	0.94306	.	0.000000	0.47093	D	0.000254	T	0.40767	0.1130	L	0.36672	1.1	0.38188	D	0.939831	D;D;D	0.71674	0.986;0.983;0.998	P;P;P	0.53146	0.644;0.67;0.719	T	0.17198	-1.0377	10	0.48119	T	0.1	.	20.2084	0.98285	0.0:0.0:1.0:0.0	.	1057;749;1057	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Q	1057;1057;749;749	ENSP00000260766:R1057Q;ENSP00000360431:R1057Q;ENSP00000360438:R749Q;ENSP00000360426:R749Q	ENSP00000260766:R1057Q	R	+	2	0	PLCE1	96002136	1.000000	0.71417	0.991000	0.47740	0.475000	0.33008	8.257000	0.89851	2.774000	0.95407	0.650000	0.86243	CGA		0.502	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		6	48	0	0	0	1	0	6	48				
ENTPD3	956	broad.mit.edu	37	3	40457421	40457421	+	Missense_Mutation	SNP	G	G	A	rs144633113	byFrequency	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr3:40457421G>A	ENST00000301825.3	+	7	806	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.V230M|ENTPD3_ENST00000456402.1_Missense_Mutation_p.V230M	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	230					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		AATATCCTTCGTGGCAGGAGA	0.552													G|||	8	0.00159744	0.0023	0.0	5008	,	,		18796	0.001		0.004	False		,,,				2504	0.0					ENST00000301825.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(688-690)Gtg>Atg		ectonucleoside triphosphate diphosphohydrolase 3		G	MET/VAL	4,4402	8.1+/-20.4	0,4,2199	92.0	77.0	82.0		688	3.5	0.1	3	dbSNP_134	82	35,8565	23.4+/-69.3	0,35,4265	yes	missense	ENTPD3	NM_001248.2	21	0,39,6464	AA,AG,GG		0.407,0.0908,0.2999	benign	230/530	40457421	39,12967	2203	4300	6503	SO:0001583	missense	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40457421G>A	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.688G>A	3.37:g.40457421G>A	ENSP00000301825:p.Val230Met					ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.V230M|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.V230M|ENTPD3-AS1_ENST00000452768.1_RNA	p.V230M	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	7	806	+			230					B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	ENST00000301825.3	37	c.688G>A	CCDS2691.1	5	0.0022893772893772895	0	0.0	0	0.0	1	0.0017482517482517483	4	0.005277044854881266	G	14.46	2.541527	0.45280	9.08E-4	0.00407	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	T;T;T	0.12147	2.71;2.71;2.71	5.38	3.55	0.40652	.	0.547984	0.21273	N	0.077281	T	0.09379	0.0231	L	0.57536	1.79	0.09310	N	1	P	0.50156	0.932	B	0.42798	0.398	T	0.19844	-1.0293	10	0.49607	T	0.09	-6.6685	3.9487	0.09360	0.0866:0.1643:0.5786:0.1704	.	230	O75355	ENTP3_HUMAN	M	230	ENSP00000301825:V230M;ENSP00000401565:V230M;ENSP00000404671:V230M	ENSP00000301825:V230M	V	+	1	0	ENTPD3	40432425	0.000000	0.05858	0.087000	0.20705	0.990000	0.78478	0.903000	0.28475	1.391000	0.46566	0.655000	0.94253	GTG		0.552	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248		3	27	0	0	0	1	0	3	27				
FLT4	2324	broad.mit.edu	37	5	180048764	180048764	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr5:180048764C>T	ENST00000261937.6	-	13	1876	c.1798G>A	c.(1798-1800)Gat>Aat	p.D600N	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.D600N|FLT4_ENST00000393347.3_Missense_Mutation_p.D600N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	600	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCGTGCGCATCGTGCAGCGTG	0.657																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1798-1800)Gat>Aat		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						86.0	76.0	79.0					5																	180048764		2203	4300	6503	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048764C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1798G>A	5.37:g.180048764C>T	ENSP00000261937:p.Asp600Asn					FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.D600N|FLT4_ENST00000502649.1_Missense_Mutation_p.D600N	p.D600N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	1876	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	600			Ig-like C2-type 6.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.1798G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815183	0.90790	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.76968	-1.06;-1.05;-1.05	4.64	4.64	0.57946	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86602	0.5972	M	0.67953	2.075	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.989;0.989;0.974	D;D;P;P	0.97110	1.0;0.93;0.898;0.806	D	0.85559	0.1226	9	0.34782	T	0.22	.	17.887	0.88858	0.0:1.0:0.0:0.0	.	600;410;600;600	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	N	600;600;600;410	ENSP00000261937:D600N;ENSP00000377016:D600N;ENSP00000426057:D600N	ENSP00000261937:D600N	D	-	1	0	FLT4	179981370	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	5.348000	0.66004	2.300000	0.77407	0.561000	0.74099	GAT		0.657	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			30	55	0	0	0	1	0	30	55				
C3orf30	152405	broad.mit.edu	37	3	118865597	118865597	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr3:118865597G>C	ENST00000295622.1	+	1	601	c.561G>C	c.(559-561)gaG>gaC	p.E187D	IGSF11_ENST00000441144.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	187										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GCCAGTCTGAGAGAAGAGCTT	0.507																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(559-561)gaG>gaC		chromosome 3 open reading frame 30							82.0	86.0	84.0					3																	118865597		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865597G>C	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.561G>C	3.37:g.118865597G>C	ENSP00000295622:p.Glu187Asp						p.E187D	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	601	+			187					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.561G>C	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.144|0.144	-1.099224|-1.099224	0.01843|0.01843	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000295622;ENST00000470341|ENST00000460150	T|T	0.25085|0.22134	1.82|1.97	3.8|3.8	-7.6|-7.6	0.01303|0.01303	.|.	1.081400|1.081400	0.07196|0.07196	N|N	0.856697|0.856697	T|T	0.14442|0.14442	0.0349|0.0349	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	1|1	B;B|.	0.15141|.	0.012;0.012|.	B;B|.	0.14578|.	0.011;0.011|.	T|T	0.13150|0.13150	-1.0520|-1.0520	10|8	0.07030|0.31617	T|T	0.85|0.26	-4.0288|-4.0288	1.5191|1.5191	0.02512|0.02512	0.1921:0.2781:0.3549:0.1749|0.1921:0.2781:0.3549:0.1749	.|.	187;187|.	E9PFE5;Q96M34|.	.;CC030_HUMAN|.	D|Q	187|151	ENSP00000295622:E187D|ENSP00000418207:E151Q	ENSP00000295622:E187D|ENSP00000418207:E151Q	E|E	+|+	3|1	2|0	C3orf30|C3orf30	120348287|120348287	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.013000|0.013000	0.08279|0.08279	-2.381000|-2.381000	0.01065|0.01065	-2.841000|-2.841000	0.00335|0.00335	-0.426000|-0.426000	0.05927|0.05927	GAG|GAG		0.507	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		17	81	0	0	0	1	0	17	81				
ZNF705B	100132396	broad.mit.edu	37	8	7808219	7808219	+	Missense_Mutation	SNP	A	A	T	rs2740676	byFrequency	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr8:7808219A>T	ENST00000400120.3	+	6	550	c.268A>T	c.(268-270)Ata>Tta	p.I90L	ZNF705B_ENST00000443676.1_Missense_Mutation_p.I90L	NM_001193630.1	NP_001180559.1	P0CI00	Z705B_HUMAN	zinc finger protein 705B	90					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.I90L(4)		kidney(2)|lung(2)	4						AAAACACATGATATCCATGCA	0.328													a|||	611	0.122005	0.3215	0.098	5008	,	,		8921	0.0476		0.0368	False		,,,				2504	0.0337					ENST00000443676.1																			4	Substitution - Missense(4)	p.I90L(4)	kidney(4)	kidney(2)|lung(2)	4						c.(268-270)Ata>Tta		zinc finger protein 705B																																				SO:0001583	missense	100132396				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr8:7808219A>T		CCDS55194.1	8p23.1	2013-01-08			ENSG00000215356	ENSG00000215356		"""Zinc fingers, C2H2-type"", ""-"""	32284	protein-coding gene	gene with protein product							Standard	NM_001193630		Approved		uc010lro.1	P0CI00	OTTHUMG00000165401	ENST00000400120.3:c.268A>T	8.37:g.7808219A>T	ENSP00000382987:p.Ile90Leu					ZNF705B_ENST00000400120.3_Missense_Mutation_p.I90L	p.I90L			P0CI00	Z705L_HUMAN			5	384	+			90					A8K971|A8MY01	Missense_Mutation	SNP	ENST00000400120.3	37	c.268A>T	CCDS55194.1	.	.	.	.	.	.	.	.	.	.	A	5.923	0.354401	0.11239	.	.	ENSG00000215356	ENST00000400120;ENST00000443676	T;T	0.10477	2.87;2.87	1.03	-0.278	0.12894	.	.	.	.	.	T	0.04182	0.0116	N	0.12182	0.205	0.80722	P	0.0	P	0.42692	0.787	B	0.38056	0.264	T	0.36016	-0.9765	8	0.13470	T	0.59	.	4.1796	0.10369	0.5061:0.0:0.4939:0.0	.	90	P0CI00	Z705L_HUMAN	L	90	ENSP00000382987:I90L;ENSP00000411618:I90L	ENSP00000382987:I90L	I	+	1	0	ZNF705B	7845629	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.124000	0.15728	-0.074000	0.12820	0.155000	0.16302	ATA		0.328	ZNF705B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383804.1	NM_001193630		6	44	0	0	0	1	0	6	44				
PTPRE	5791	broad.mit.edu	37	10	129866487	129866487	+	Missense_Mutation	SNP	A	A	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr10:129866487A>T	ENST00000254667.3	+	12	1223	c.944A>T	c.(943-945)aAg>aTg	p.K315M	PTPRE_ENST00000419012.2_Missense_Mutation_p.K315M|PTPRE_ENST00000306042.5_Missense_Mutation_p.K257M	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	315	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GGGATGCTGAAGTTCCTCAAG	0.632																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(943-945)aAg>aTg		protein tyrosine phosphatase, receptor type, E							73.0	69.0	70.0					10																	129866487		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129866487A>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.944A>T	10.37:g.129866487A>T	ENSP00000254667:p.Lys315Met					PTPRE_ENST00000419012.2_Missense_Mutation_p.K315M|PTPRE_ENST00000306042.5_Missense_Mutation_p.K257M	p.K315M	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			12	1223	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	315			Tyrosine-protein phosphatase 1.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.944A>T	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406177	0.83230	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.12569	2.67;2.67;2.67	3.88	3.88	0.44766	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.37376	0.1001	M	0.81614	2.55	0.80722	D	1	D;D;D;D	0.76494	0.999;0.992;0.996;0.992	D;D;P;D	0.79784	0.993;0.929;0.898;0.929	T	0.25537	-1.0129	10	0.46703	T	0.11	.	13.2203	0.59883	1.0:0.0:0.0:0.0	.	293;315;257;315	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	M	315;293;315;257	ENSP00000254667:K315M;ENSP00000402337:K315M;ENSP00000303350:K257M	ENSP00000254667:K315M	K	+	2	0	PTPRE	129756477	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.965000	0.93393	1.761000	0.52028	0.456000	0.33151	AAG		0.632	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			11	56	0	0	0	1	0	11	56				
OTOF	9381	broad.mit.edu	37	2	26739314	26739314	+	Missense_Mutation	SNP	G	G	A	rs377378925		TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr2:26739314G>A	ENST00000272371.2	-	5	607	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	OTOF_ENST00000403946.3_Missense_Mutation_p.R161W	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	161					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGGGGCCGGGAGCTGGGC	0.637																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(481-483)Cgg>Tgg		otoferlin		G	TRP/ARG	0,4406		0,0,2203	66.0	78.0	74.0		481	3.6	1.0	2		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	OTOF	NM_194248.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	161/1998	26739314	1,13005	2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26739314G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.481C>T	2.37:g.26739314G>A	ENSP00000272371:p.Arg161Trp					OTOF_ENST00000403946.3_Missense_Mutation_p.R161W	p.R161W	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			5	607	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		161					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.481C>T	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.856378	0.32791	0.0	1.16E-4	ENSG00000115155	ENST00000272371;ENST00000403946;ENST00000380499	T;T	0.80566	-1.39;-1.39	5.46	3.6	0.41247	.	0.346086	0.28209	N	0.016184	T	0.63943	0.2554	N	0.22421	0.69	0.32330	N	0.561243	D	0.60575	0.988	B	0.41299	0.353	T	0.69510	-0.5126	10	0.56958	D	0.05	-26.3298	4.284	0.10846	0.0839:0.1595:0.591:0.1655	.	161	Q9HC10	OTOF_HUMAN	W	161;161;30	ENSP00000272371:R161W;ENSP00000385255:R161W	ENSP00000272371:R161W	R	-	1	2	OTOF	26592818	0.996000	0.38824	0.996000	0.52242	0.140000	0.21249	1.245000	0.32790	0.629000	0.30376	0.655000	0.94253	CGG		0.637	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			12	124	0	0	0	1	0	12	124				
ZNF175	7728	broad.mit.edu	37	19	52076481	52076481	+	De_novo_Start_OutOfFrame	SNP	C	C	A	rs386810357|rs2305371	byFrequency	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:52076481C>A	ENST00000262259.2	+	0	257				ZNF175_ENST00000436511.2_5'Flank|ZNF175_ENST00000596504.1_De_novo_Start_OutOfFrame|ZNF175_ENST00000545217.1_De_novo_Start_OutOfFrame	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175						defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GACTCTCCGCCGTGTCCCTGG	0.527													A|||	1937	0.386781	0.2988	0.2637	5008	,	,		19505	0.7599		0.2465	False		,,,				2504	0.3528					ENST00000262259.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24								zinc finger protein 175																																						7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52076481C>A	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.-102C>A	19.37:g.52076481C>A						ZNF175_ENST00000545217.1_De_novo_Start_OutOfFrame|ZNF175_ENST00000596504.1_De_novo_Start_OutOfFrame		NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	0	257	+		all_neural(266;0.0299)						A8K9H2	Translation_Start_Site	SNP	ENST00000262259.2	37		CCDS12837.1																																																																																				0.527	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		5	64	1	0	1.23904e-05	1	1.32244e-05	5	64				
PCDHB5	26167	broad.mit.edu	37	5	140515776	140515776	+	Missense_Mutation	SNP	A	A	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr5:140515776A>T	ENST00000231134.5	+	1	977	c.760A>T	c.(760-762)Aac>Tac	p.N254Y		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	254	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCCCGAGAACAGCCCCCT	0.493																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(760-762)Aac>Tac									187.0	201.0	196.0					5																	140515776		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515776A>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.760A>T	5.37:g.140515776A>T	ENSP00000231134:p.Asn254Tyr						p.N254Y	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	977	+			254			Cadherin 3.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.760A>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.525434	0.44969	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.58060	0.36	5.37	1.41	0.22369	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81389	0.4812	H	0.99117	4.435	0.31769	N	0.632295	D	0.64830	0.994	D	0.70935	0.971	T	0.81728	-0.0800	9	0.87932	D	0	.	9.6856	0.40096	0.7947:0.0:0.2053:0.0	.	254	Q9Y5E4	PCDB5_HUMAN	Y	254;38	ENSP00000231134:N254Y	ENSP00000231134:N254Y	N	+	1	0	PCDHB5	140495960	0.854000	0.29725	0.643000	0.29450	0.489000	0.33432	2.634000	0.46528	0.063000	0.16370	0.454000	0.30748	AAC		0.493	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		103	223	0	0	0	1	0	103	223				
PNPT1	87178	broad.mit.edu	37	2	55873415	55873415	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr2:55873415C>G	ENST00000447944.2	-	21	1803	c.1717G>C	c.(1717-1719)Gag>Cag	p.E573Q		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	573					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGAATAGCCTCCATCACAATT	0.323																																						ENST00000447944.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27						c.(1717-1719)Gag>Cag		polyribonucleotide nucleotidyltransferase 1							98.0	104.0	102.0					2																	55873415		2203	4300	6503	SO:0001583	missense	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55873415C>G	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1717G>C	2.37:g.55873415C>G	ENSP00000400646:p.Glu573Gln						p.E573Q	NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		21	1803	-			573					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	c.1717G>C	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422965	0.83559	.	.	ENSG00000138035	ENST00000447944	T	0.53857	0.6	4.97	4.97	0.65823	Exoribonuclease, phosphorolytic domain 2 (2);	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	L	0.48362	1.52	0.80722	D	1	D	0.62365	0.991	D	0.63877	0.919	T	0.55945	-0.8060	10	0.15499	T	0.54	-20.0889	18.5854	0.91187	0.0:1.0:0.0:0.0	.	573	Q8TCS8	PNPT1_HUMAN	Q	573	ENSP00000400646:E573Q	ENSP00000393953:E573Q	E	-	1	0	PNPT1	55726919	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.712000	0.68407	2.460000	0.83146	0.563000	0.77884	GAG		0.323	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		10	48	0	0	0	1	0	10	48				
C16orf58	64755	broad.mit.edu	37	16	31504971	31504971	+	Missense_Mutation	SNP	T	T	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr16:31504971T>A	ENST00000327237.2	-	8	950	c.911A>T	c.(910-912)gAg>gTg	p.E304V	C16orf58_ENST00000570164.1_Missense_Mutation_p.E302V|C16orf58_ENST00000430477.2_Missense_Mutation_p.E162V|C16orf58_ENST00000567994.1_Missense_Mutation_p.E259V			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	304						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						GTCGAGTACCTCTCCCCTCTG	0.627																																						ENST00000327237.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						c.(910-912)gAg>gTg		chromosome 16 open reading frame 58							63.0	66.0	65.0					16																	31504971		2197	4300	6497	SO:0001583	missense	64755					integral to membrane		g.chr16:31504971T>A	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.911A>T	16.37:g.31504971T>A	ENSP00000317579:p.Glu304Val					C16orf58_ENST00000567994.1_Missense_Mutation_p.E259V|C16orf58_ENST00000430477.2_Missense_Mutation_p.E162V|C16orf58_ENST00000570164.1_Missense_Mutation_p.E302V	p.E304V			Q96GQ5	CP058_HUMAN			8	950	-			304					Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Missense_Mutation	SNP	ENST00000327237.2	37	c.911A>T	CCDS10715.1	.	.	.	.	.	.	.	.	.	.	T	12.55	1.970992	0.34754	.	.	ENSG00000140688	ENST00000327237;ENST00000452223;ENST00000430477	T;T	0.46451	0.87;0.87	5.57	5.57	0.84162	.	0.395460	0.30501	N	0.009488	T	0.36110	0.0955	L	0.42245	1.32	0.35776	D	0.821294	B;B	0.23806	0.022;0.091	B;B	0.22152	0.038;0.029	T	0.40515	-0.9559	10	0.28530	T	0.3	-19.791	13.6948	0.62572	0.0:0.0:0.0:1.0	.	162;304	B4DJP2;Q96GQ5	.;CP058_HUMAN	V	304;258;162	ENSP00000317579:E304V;ENSP00000398074:E162V	ENSP00000317579:E304V	E	-	2	0	C16orf58	31412472	0.240000	0.23847	0.990000	0.47175	0.757000	0.42996	1.450000	0.35134	2.117000	0.64856	0.460000	0.39030	GAG		0.627	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255629.2	NM_022744		5	56	0	0	0	1	0	5	56				
UBE3C	9690	broad.mit.edu	37	7	156979548	156979548	+	Silent	SNP	A	A	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr7:156979548A>G	ENST00000348165.5	+	10	1524	c.1164A>G	c.(1162-1164)gtA>gtG	p.V388V	UBE3C_ENST00000389103.4_Silent_p.V345V	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	388					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GACTGTCAGTATCATACATAA	0.483																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(1162-1164)gtA>gtG		ubiquitin protein ligase E3C							136.0	104.0	115.0					7																	156979548		2203	4300	6503	SO:0001819	synonymous_variant	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156979548A>G	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1164A>G	7.37:g.156979548A>G						UBE3C_ENST00000389103.4_Silent_p.V345V	p.V388V	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	10	1524	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	388					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	ENST00000348165.5	37	c.1164A>G	CCDS34789.1																																																																																				0.483	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		6	23	0	0	0	1	0	6	23				
HIST1H2BD	3017	broad.mit.edu	37	6	26158602	26158602	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:26158602G>C	ENST00000289316.2	+	1	229	c.205G>C	c.(205-207)Gac>Cac	p.D69H	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.D69H	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	69					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CTTCGTCAACGACATCTTCGA	0.577																																						ENST00000289316.2																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						c.(205-207)Gac>Cac		histone cluster 1, H2bd							172.0	162.0	165.0					6																	26158602		2203	4300	6503	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158602G>C	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.205G>C	6.37:g.26158602G>C	ENSP00000289316:p.Asp69His					HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.D69H	p.D69H	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN			1	229	+			69						Missense_Mutation	SNP	ENST00000289316.2	37	c.205G>C	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	21.5	4.154309	0.78114	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.30182	1.54;1.54	5.19	4.29	0.51040	Histone-fold (2);Histone core (1);	0.000000	0.43747	D	0.000525	T	0.47340	0.1440	H	0.98883	4.36	0.48901	D	0.999724	P	0.36535	0.557	B	0.40165	0.321	T	0.65825	-0.6074	10	0.66056	D	0.02	.	14.573	0.68224	0.0:0.0:0.848:0.152	.	69	P58876	H2B1D_HUMAN	H	69	ENSP00000367008:D69H;ENSP00000289316:D69H	ENSP00000289316:D69H	D	+	1	0	HIST1H2BD	26266581	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.680000	0.74518	1.460000	0.47911	0.650000	0.86243	GAC		0.577	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		11	184	0	0	0	1	0	11	184				
SI	6476	broad.mit.edu	37	3	164735605	164735605	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr3:164735605C>G	ENST00000264382.3	-	30	3639	c.3577G>C	c.(3577-3579)Gat>Cat	p.D1193H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1193	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.D1193N(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ATATAAAAATCCAAGATCCCT	0.333										HNSCC(35;0.089)																												ENST00000264382.3																			1	Substitution - Missense(1)	p.D1193N(1)	haematopoietic_and_lymphoid_tissue(1)	NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3577-3579)Gat>Cat		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						57.0	56.0	56.0					3																	164735605		2202	4300	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735605C>G	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3577G>C	3.37:g.164735605C>G	ENSP00000264382:p.Asp1193His	HNSCC(35;0.089)					p.D1193H	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			30	3639	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1193			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3577G>C	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371524	0.82573	.	.	ENSG00000090402	ENST00000264382	D	0.91351	-2.83	4.91	4.91	0.64330	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.97018	0.9026	H	0.96489	3.83	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.98254	1.0495	10	0.87932	D	0	.	18.2831	0.90104	0.0:1.0:0.0:0.0	.	1193	P14410	SUIS_HUMAN	H	1193	ENSP00000264382:D1193H	ENSP00000264382:D1193H	D	-	1	0	SI	166218299	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.465000	0.73538	2.540000	0.85666	0.491000	0.48974	GAT		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		6	66	0	0	0	1	0	6	66				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977359	29977359	+	RNA	SNP	G	G	A	rs367861986|rs3831361|rs370297731	byFrequency	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:29977359G>A	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		ATTTGTTCATGCCTTCCCTTT	0.453																																						ENST00000376797.3																			0																																																			80862							g.chr6:29977359G>A	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977359G>A						HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.453	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	45	0	0	0	1	0	4	45				
SGIP1	84251	broad.mit.edu	37	1	67185026	67185026	+	Silent	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:67185026C>G	ENST00000371037.4	+	19	1757	c.1680C>G	c.(1678-1680)ctC>ctG	p.L560L	SGIP1_ENST00000237247.6_Silent_p.L591L|SGIP1_ENST00000371039.1_Silent_p.L363L|SGIP1_ENST00000435165.2_Silent_p.L65L|SGIP1_ENST00000371036.3_Silent_p.L362L|SGIP1_ENST00000371035.3_Silent_p.L350L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	560	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGGACACTCTCCCTGTTGCAG	0.438																																						ENST00000371037.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						c.(1678-1680)ctC>ctG		SH3-domain GRB2-like (endophilin) interacting protein 1							74.0	68.0	70.0					1																	67185026		2203	4300	6503	SO:0001819	synonymous_variant	84251				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	g.chr1:67185026C>G	AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1680C>G	1.37:g.67185026C>G						SGIP1_ENST00000371035.3_Silent_p.L350L|SGIP1_ENST00000371036.3_Silent_p.L362L|SGIP1_ENST00000371039.1_Silent_p.L363L|SGIP1_ENST00000237247.6_Silent_p.L591L|SGIP1_ENST00000435165.2_Silent_p.L65L	p.L560L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN			19	1757	+			560					A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	ENST00000371037.4	37	c.1680C>G	CCDS30744.1																																																																																				0.438	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291		6	38	0	0	0	1	0	6	38				
CCDC180	100499483	broad.mit.edu	37	9	100122338	100122338	+	Silent	SNP	T	T	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr9:100122338T>C	ENST00000357054.1	+	37	4418	c.3483T>C	c.(3481-3483)ctT>ctC	p.L1161L	CCDC180_ENST00000529487.1_Silent_p.L1190L|CCDC180_ENST00000375202.2_Silent_p.L1190L|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1161						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TTCAGTACCTTAACTGCAGCC	0.517																																						ENST00000375202.2																			0											c.(3568-3570)ctT>ctC		coiled-coil domain containing 180							132.0	127.0	129.0					9																	100122338		2203	4300	6503	SO:0001819	synonymous_variant	100499483							g.chr9:100122338T>C	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3483T>C	9.37:g.100122338T>C						CCDC180_ENST00000357054.1_Silent_p.L1161L|CCDC180_ENST00000529487.1_Silent_p.L1190L|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA	p.L1190L							40	4922	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37	c.3570T>C																																																																																					0.517	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		29	223	0	0	0	1	0	29	223				
CBLL1	79872	broad.mit.edu	37	7	107399511	107399511	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr7:107399511C>A	ENST00000440859.3	+	6	1831	c.1364C>A	c.(1363-1365)cCt>cAt	p.P455H	CBLL1_ENST00000222597.2_Missense_Mutation_p.P454H	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	455	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						GGTATATGGCCTGCACCAAGA	0.512																																						ENST00000440859.2																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(1363-1365)cCt>cAt		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							148.0	146.0	147.0					7																	107399511		2203	4300	6503	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107399511C>A	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.1364C>A	7.37:g.107399511C>A	ENSP00000401277:p.Pro455His					CBLL1_ENST00000222597.2_Missense_Mutation_p.P454H	p.P455H	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN			6	1831	+			455			Pro-rich.		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.1364C>A	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	c	16.04	3.009729	0.54361	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000417616	T;T	0.51574	0.7;0.7	5.29	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.63105	0.2483	M	0.63843	1.955	0.19575	N	0.999965	D;D	0.76494	0.999;0.999	D;D	0.64237	0.923;0.923	T	0.56275	-0.8006	10	0.45353	T	0.12	-1.6645	16.0281	0.80558	0.0:0.866:0.134:0.0	.	454;455	B7ZM03;Q75N03	.;HAKAI_HUMAN	H	455;334;454;246	ENSP00000401277:P455H;ENSP00000222597:P454H	ENSP00000222597:P454H	P	+	2	0	CBLL1	107186747	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.552000	0.67281	2.496000	0.84212	0.441000	0.28932	CCT		0.512	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		55	124	1	0	9.52127e-25	1	1.06754e-24	55	124				
PARP1	142	broad.mit.edu	37	1	226567780	226567780	+	Silent	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:226567780G>C	ENST00000366794.5	-	10	1529	c.1386C>G	c.(1384-1386)gtC>gtG	p.V462V		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	462	Automodification domain.|BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|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)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TGGAGGCGGAGACGTCCTGGA	0.512								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(1384-1386)gtC>gtG	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							70.0	63.0	65.0					1																	226567780		2203	4300	6503	SO:0001819	synonymous_variant	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226567780G>C	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1386C>G	1.37:g.226567780G>C							p.V462V	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	10	1529	-	Breast(184;0.133)		462			Automodification domain.|BRCT.		B1ANJ4|Q8IUZ9	Silent	SNP	ENST00000366794.5	37	c.1386C>G	CCDS1554.1																																																																																				0.512	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		6	42	0	0	0	1	0	6	42				
CEACAM6	4680	broad.mit.edu	37	19	42260722	42260722	+	Silent	SNP	C	C	A	rs376555378		TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:42260722C>A	ENST00000199764.6	+	2	497	c.279C>A	c.(277-279)ccC>ccA	p.P93P	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)	93	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)				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)		CCCCAGGGCCCGCATACAGTG	0.458																																						ENST00000199764.6																			0				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18						c.(277-279)ccC>ccA		carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)							276.0	262.0	267.0					19																	42260722		2203	4300	6503	SO:0001819	synonymous_variant	4680				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		g.chr19:42260722C>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.279C>A	19.37:g.42260722C>A						CEA_ENST00000598976.1_Intron	p.P93P	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	497	+			93			Ig-like V-type.		Q13774|Q14920|Q53XP7	Silent	SNP	ENST00000199764.6	37	c.279C>A	CCDS12585.1																																																																																				0.458	CEACAM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321147.1			23	251	1	0	5.26018e-13	1	5.78099e-13	23	251				
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs62538181|rs200215881		TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433																																						ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(3739-3741)atG>atC		contactin associated protein-like 3B																																				SO:0001583	missense	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43915893G>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.3741G>C	9.37:g.43915893G>C	ENSP00000366787:p.Met1247Ile						p.M1247I	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			23	4134	+			1247					B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.3741G>C	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	C	1.267	-0.614036	0.03690	.	.	ENSG00000154529	ENST00000377564;ENST00000377555	T	0.23552	1.9	2.87	-2.82	0.05787	.	.	.	.	.	T	0.03053	0.0090	N	0.00018	-2.82	0.09310	P	0.9999999999977237	B	0.02656	0.0	B	0.01281	0.0	T	0.44267	-0.9339	8	0.11794	T	0.64	.	7.2283	0.26028	0.0:0.1691:0.1448:0.6861	.	161	E9PBG0	.	I	1247;161	ENSP00000366787:M1247I	ENSP00000366778:M161I	M	+	3	0	CNTNAP3B	43855889	0.990000	0.36364	0.901000	0.35422	0.347000	0.29111	0.022000	0.13511	-1.052000	0.03222	-2.091000	0.00372	ATG		0.433	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			4	27	0	0	0	1	0	4	27				
AHNAK	79026	broad.mit.edu	37	11	62299999	62299999	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr11:62299999C>G	ENST00000378024.4	-	5	2164	c.1890G>C	c.(1888-1890)aaG>aaC	p.K630N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	630					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATTTTCATCTTGGGCATTT	0.507																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(1888-1890)aaG>aaC		AHNAK nucleoprotein							115.0	106.0	109.0					11																	62299999		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62299999C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1890G>C	11.37:g.62299999C>G	ENSP00000367263:p.Lys630Asn					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.K630N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2164	-		Melanoma(852;0.155)	630					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.1890G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305466	0.40795	.	.	ENSG00000124942	ENST00000378024	T	0.02606	4.23	4.48	2.58	0.30949	.	.	.	.	.	T	0.10208	0.0250	M	0.89095	3.005	0.27415	N	0.954452	P	0.48911	0.917	P	0.52793	0.709	T	0.11131	-1.0600	9	0.54805	T	0.06	-2.9569	4.2715	0.10789	0.1612:0.5798:0.0:0.2589	.	630	Q09666	AHNK_HUMAN	N	630	ENSP00000367263:K630N	ENSP00000367263:K630N	K	-	3	2	AHNAK	62056575	0.859000	0.29813	1.000000	0.80357	0.723000	0.41478	0.565000	0.23578	0.344000	0.23847	0.305000	0.20034	AAG		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		12	139	0	0	0	1	0	12	139				
TXK	7294	broad.mit.edu	37	4	48088525	48088525	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr4:48088525G>C	ENST00000264316.4	-	10	999	c.914C>G	c.(913-915)tCc>tGc	p.S305C	TXK_ENST00000510457.1_5'Flank	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	305	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TTCAGACATGGAGCCTTCATT	0.433																																						ENST00000264316.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						c.(913-915)tCc>tGc		TXK tyrosine kinase							240.0	203.0	216.0					4																	48088525		2203	4300	6503	SO:0001583	missense	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48088525G>C	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.914C>G	4.37:g.48088525G>C	ENSP00000264316:p.Ser305Cys						p.S305C	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN			10	999	-			305			Protein kinase.		Q14220	Missense_Mutation	SNP	ENST00000264316.4	37	c.914C>G	CCDS3480.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886768	0.72410	.	.	ENSG00000074966	ENST00000264316	D	0.83506	-1.73	5.14	3.38	0.38709	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.317797	0.28042	N	0.016821	D	0.86049	0.5840	M	0.66439	2.03	0.80722	D	1	D	0.54397	0.966	P	0.55545	0.778	D	0.85956	0.1467	10	0.87932	D	0	.	10.0357	0.42127	0.0751:0.1383:0.7866:0.0	.	305	P42681	TXK_HUMAN	C	305	ENSP00000264316:S305C	ENSP00000264316:S305C	S	-	2	0	TXK	47783282	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.481000	0.66826	0.838000	0.34948	0.650000	0.86243	TCC		0.433	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	NM_003328		13	131	0	0	0	1	0	13	131				
GRIN2B	2904	broad.mit.edu	37	12	13768577	13768577	+	Silent	SNP	C	C	T	rs200607718		TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr12:13768577C>T	ENST00000609686.1	-	6	1559	c.1350G>A	c.(1348-1350)ccG>ccA	p.P450P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	450					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.P450P(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGATGTAACCCGGCTCCTCGT	0.353																																						ENST00000279593.3																			1	Substitution - coding silent(1)	p.P450P(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1348-1350)ccG>ccA		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						128.0	142.0	138.0					12																	13768577		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13768577C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1350G>A	12.37:g.13768577C>T							p.P450P	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			6	1559	-			450					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.1350G>A	CCDS8662.1																																																																																				0.353	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			40	175	0	0	0	1	0	40	175				
BRINP3	339479	broad.mit.edu	37	1	190423828	190423828	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:190423828C>A	ENST00000367462.3	-	2	424	c.193G>T	c.(193-195)Gac>Tac	p.D65Y	BRINP3_ENST00000534846.1_Missense_Mutation_p.W26C	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	65					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CGGCTTCTGTCCACAAAATCT	0.463																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(193-195)Gac>Tac									88.0	85.0	86.0					1																	190423828		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190423828C>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.193G>T	1.37:g.190423828C>A	ENSP00000356432:p.Asp65Tyr					FAM5C_ENST00000534846.1_Missense_Mutation_p.W26C|FAM5C_ENST00000484105.1_5'UTR	p.D65Y	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			2	424	-	Prostate(682;0.198)		65					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.193G>T	CCDS1373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.15|15.15	2.747540|2.747540	0.49257|0.49257	.|.	.|.	ENSG00000162670|ENSG00000162670	ENST00000367462;ENST00000445957|ENST00000534846	D;T|T	0.84873|0.16743	-1.91;0.77|2.32	5.42|5.42	5.42|5.42	0.78866|0.78866	Membrane attack complex component/perforin (MACPF) domain (1);|.	0.057888|.	0.64402|.	D|.	0.000002|.	T|T	0.22589|0.22589	0.0545|0.0545	N|N	0.24115|0.24115	0.695|0.695	0.51482|0.51482	D|D	0.999927|0.999927	D|D	0.59767|0.61697	0.986|0.99	P|P	0.57679|0.53450	0.825|0.726	T|T	0.01242|0.01242	-1.1408|-1.1408	10|9	0.87932|0.87932	D|D	0|0	.|.	16.7242|16.7242	0.85417|0.85417	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	65|26	Q76B58|B7Z260	FAM5C_HUMAN|.	Y|C	65|26	ENSP00000356432:D65Y;ENSP00000393441:D65Y|ENSP00000438022:W26C	ENSP00000356432:D65Y|ENSP00000438022:W26C	D|W	-|-	1|3	0|0	FAM5C|FAM5C	188690451|188690451	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.463000|7.463000	0.80869|0.80869	2.540000|2.540000	0.85666|0.85666	0.655000|0.655000	0.94253|0.94253	GAC|TGG		0.463	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		3	29	1	0	1	1	1	3	29				
EPPK1	83481	broad.mit.edu	37	8	144942069	144942069	+	Missense_Mutation	SNP	G	G	A	rs201036475	byFrequency	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr8:144942069G>A	ENST00000525985.1	-	2	5424	c.5353C>T	c.(5353-5355)Cgc>Tgc	p.R1785C				P58107	EPIPL_HUMAN	epiplakin 1	1785						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCCCCACGCGCATTTTTGCA	0.517													G|||	2	0.000399361	0.0	0.0	5008	,	,		20456	0.0		0.0	False		,,,				2504	0.002					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(5353-5355)Cgc>Tgc		epiplakin 1		G	CYS/ARG	1,3951		0,1,1975	107.0	105.0	106.0		5353	3.3	0.0	8		106	5,8317		0,5,4156	yes	missense	EPPK1	NM_031308.1	180	0,6,6131	AA,AG,GG		0.0601,0.0253,0.0489	possibly-damaging	1785/2420	144942069	6,12268	1976	4161	6137	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144942069G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.5353C>T	8.37:g.144942069G>A	ENSP00000436337:p.Arg1785Cys						p.R1785C			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	5424	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1785					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.5353C>T		.	.	.	.	.	.	.	.	.	.	G	15.44	2.834246	0.50951	2.53E-4	6.01E-4	ENSG00000227184	ENST00000525985	T	0.67523	-0.27	5.2	3.35	0.38373	.	.	.	.	.	T	0.49081	0.1536	N	0.19112	0.55	0.09310	N	1	D	0.61697	0.99	B	0.43575	0.424	T	0.38628	-0.9652	9	0.52906	T	0.07	.	5.324	0.15896	0.1732:0.0:0.6657:0.1611	.	1785	E9PPU0	.	C	1785	ENSP00000436337:R1785C	ENSP00000436337:R1785C	R	-	1	0	EPPK1	145014057	0.000000	0.05858	0.019000	0.16419	0.020000	0.10135	-0.000000	0.12993	1.394000	0.46624	0.585000	0.79938	CGC		0.517	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		40	112	0	0	0	1	0	40	112				
OR10AG1	282770	broad.mit.edu	37	11	55735289	55735289	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr11:55735289C>G	ENST00000312345.2	-	1	701	c.651G>C	c.(649-651)ttG>ttC	p.L217F		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ATGACAATTTCAAAATGTTGG	0.393																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(649-651)ttG>ttC		olfactory receptor, family 10, subfamily AG, member 1							63.0	63.0	63.0					11																	55735289		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735289C>G	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.651G>C	11.37:g.55735289C>G	ENSP00000311477:p.Leu217Phe						p.L217F	NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN			1	701	-	Esophageal squamous(21;0.0137)		217					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.651G>C	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231642	0.39399	.	.	ENSG00000174970	ENST00000312345	T	0.00296	8.24	5.37	2.34	0.29019	GPCR, rhodopsin-like superfamily (1);	0.165820	0.28921	N	0.013708	T	0.00552	0.0018	M	0.85542	2.76	0.19575	N	0.999964	P	0.49961	0.93	P	0.53988	0.739	T	0.25572	-1.0128	10	0.56958	D	0.05	.	15.3185	0.74102	0.0:0.4371:0.5629:0.0	.	217	Q8NH19	O10AG_HUMAN	F	217	ENSP00000311477:L217F	ENSP00000311477:L217F	L	-	3	2	OR10AG1	55491865	0.000000	0.05858	0.080000	0.20451	0.742000	0.42306	-1.760000	0.01806	0.228000	0.21019	-0.679000	0.03777	TTG		0.393	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		7	78	0	0	0	1	0	7	78				
ZSCAN29	146050	broad.mit.edu	37	15	43658664	43658664	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr15:43658664T>C	ENST00000396976.2	-	3	1000	c.866A>G	c.(865-867)tAt>tGt	p.Y289C	ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.Y288C	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	289					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAGGAAGCCATATTCCCTGAG	0.557																																						ENST00000396976.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(865-867)tAt>tGt		zinc finger and SCAN domain containing 29							83.0	88.0	86.0					15																	43658664		2201	4299	6500	SO:0001583	missense	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43658664T>C	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.866A>G	15.37:g.43658664T>C	ENSP00000380174:p.Tyr289Cys					ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.Y288C|ZSCAN29_ENST00000396972.1_Intron	p.Y289C	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	3	1000	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	289					B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	ENST00000396976.2	37	c.866A>G	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	T	13.49	2.253531	0.39797	.	.	ENSG00000140265	ENST00000396976	T	0.42131	0.98	4.74	2.36	0.29203	.	0.510248	0.18237	N	0.147344	T	0.37265	0.0997	N	0.10874	0.06	0.80722	D	1	B;B;D	0.69078	0.02;0.016;0.997	B;B;D	0.63597	0.022;0.009;0.916	T	0.10800	-1.0614	10	0.37606	T	0.19	-3.6055	8.0251	0.30431	0.4898:0.0:0.0:0.5102	.	288;289;289	C9K0J8;Q8IWY8-3;Q8IWY8	.;.;ZSC29_HUMAN	C	289	ENSP00000380174:Y289C	ENSP00000380174:Y289C	Y	-	2	0	ZSCAN29	41445956	0.987000	0.35691	0.997000	0.53966	0.996000	0.88848	0.364000	0.20325	0.291000	0.22468	0.533000	0.62120	TAT		0.557	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		12	95	0	0	0	1	0	12	95				
AHNAK	79026	broad.mit.edu	37	11	62291089	62291089	+	Silent	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr11:62291089C>G	ENST00000378024.4	-	5	11074	c.10800G>C	c.(10798-10800)ctG>ctC	p.L3600L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3600					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGCATCTTCAGATGCCAGT	0.483																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(10798-10800)ctG>ctC		AHNAK nucleoprotein							209.0	213.0	211.0					11																	62291089		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62291089C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.10800G>C	11.37:g.62291089C>G						AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.L3600L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	11074	-		Melanoma(852;0.155)	3600					A1A586	Silent	SNP	ENST00000378024.4	37	c.10800G>C	CCDS31584.1																																																																																				0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		31	275	0	0	0	1	0	31	275				
C3orf30	152405	broad.mit.edu	37	3	118865650	118865650	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr3:118865650G>C	ENST00000295622.1	+	1	654	c.614G>C	c.(613-615)aGa>aCa	p.R205T	IGSF11_ENST00000441144.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	205										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GCTGAGCGAAGAACTTCTGAG	0.517																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(613-615)aGa>aCa		chromosome 3 open reading frame 30							112.0	115.0	114.0					3																	118865650		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865650G>C	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.614G>C	3.37:g.118865650G>C	ENSP00000295622:p.Arg205Thr						p.R205T	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	654	+			205					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.614G>C	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.275|6.275	0.418841|0.418841	0.11870|0.11870	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000460150|ENST00000295622;ENST00000470341	.|T	.|0.21932	.|1.98	3.6|3.6	2.72|2.72	0.32119|0.32119	.|.	.|1.128570	.|0.06630	.|N	.|0.759005	T|T	0.26738|0.26738	0.0654|0.0654	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	.|P;P	.|0.44429	.|0.835;0.493	.|B;B	.|0.43728	.|0.429;0.234	T|T	0.33317|0.33317	-0.9873|-0.9873	5|10	.|0.42905	.|T	.|0.14	-6.6036|-6.6036	13.2096|13.2096	0.59817|0.59817	0.0:0.0:0.8375:0.1625|0.0:0.0:0.8375:0.1625	.|.	.|205;205	.|E9PFE5;Q96M34	.|.;CC030_HUMAN	N|T	168|205	.|ENSP00000295622:R205T	.|ENSP00000295622:R205T	K|R	+|+	3|2	2|0	C3orf30|C3orf30	120348340|120348340	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.142000|-0.142000	0.10311|0.10311	0.502000|0.502000	0.28037|0.28037	-1.796000|-1.796000	0.00623|0.00623	AAG|AGA		0.517	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		14	104	0	0	0	1	0	14	104				
SPEN	23013	broad.mit.edu	37	1	16255489	16255489	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:16255489G>T	ENST00000375759.3	+	11	2958	c.2754G>T	c.(2752-2754)caG>caT	p.Q918H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	918					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGAAACTTCAGGTCTCTCAGA	0.443																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(2752-2754)caG>caT		spen family transcriptional repressor							155.0	170.0	165.0					1																	16255489		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255489G>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2754G>T	1.37:g.16255489G>T	ENSP00000364912:p.Gln918His						p.Q918H	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2958	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	918					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.2754G>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	9.633	1.136938	0.21123	.	.	ENSG00000065526	ENST00000375759	T	0.57907	0.37	5.2	1.2	0.21068	.	.	.	.	.	T	0.46328	0.1387	L	0.57536	1.79	0.26062	N	0.981339	P	0.44090	0.826	B	0.41723	0.365	T	0.36817	-0.9732	9	0.59425	D	0.04	-6.7895	5.9017	0.18970	0.2186:0.0:0.6468:0.1346	.	918	Q96T58	MINT_HUMAN	H	918	ENSP00000364912:Q918H	ENSP00000364912:Q918H	Q	+	3	2	SPEN	16128076	0.034000	0.19679	0.874000	0.34290	0.871000	0.50021	0.800000	0.27042	0.065000	0.16485	-0.140000	0.14226	CAG		0.443	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		46	188	1	0	5.20006e-24	1	5.77207e-24	46	188				
ARID4A	5926	broad.mit.edu	37	14	58830908	58830908	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr14:58830908G>A	ENST00000355431.3	+	20	2474	c.2101G>A	c.(2101-2103)Gaa>Aaa	p.E701K	ARID4A_ENST00000431317.2_Missense_Mutation_p.E701K|ARID4A_ENST00000348476.3_Missense_Mutation_p.E701K|ARID4A_ENST00000395168.3_Missense_Mutation_p.E701K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	701					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATCTGATAGTGAAACAGAAGA	0.234																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2101-2103)Gaa>Aaa		AT rich interactive domain 4A (RBP1-like)							15.0	16.0	16.0					14																	58830908		1853	3985	5838	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58830908G>A	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2101G>A	14.37:g.58830908G>A	ENSP00000347602:p.Glu701Lys					ARID4A_ENST00000431317.2_Missense_Mutation_p.E701K|ARID4A_ENST00000348476.3_Missense_Mutation_p.E701K|ARID4A_ENST00000395168.3_Missense_Mutation_p.E701K	p.E701K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			20	2474	+			701					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.2101G>A	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526505	0.64860	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.18960	2.29;2.26;2.18;2.26;2.26	5.8	5.8	0.92144	Chromo domain-like (1);	0.294664	0.36972	N	0.002307	T	0.31606	0.0802	L	0.34521	1.04	0.54753	D	0.999987	D;B;P	0.55605	0.972;0.229;0.925	P;B;P	0.53912	0.737;0.11;0.54	T	0.00704	-1.1602	10	0.51188	T	0.08	-27.3593	20.0432	0.97601	0.0:0.0:1.0:0.0	.	701;701;701	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	K	701;701;701;701;379	ENSP00000347602:E701K;ENSP00000344556:E701K;ENSP00000378597:E701K;ENSP00000397368:E701K;ENSP00000416053:E379K	ENSP00000344556:E701K	E	+	1	0	ARID4A	57900661	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.757000	0.74924	2.740000	0.93945	0.650000	0.86243	GAA		0.234	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		11	68	0	0	0	1	0	11	68				
HMCN1	83872	broad.mit.edu	37	1	185891515	185891515	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:185891515C>G	ENST00000271588.4	+	7	1134	c.905C>G	c.(904-906)tCa>tGa	p.S302*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S302*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	302					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTCAGACCTCAAGCAGTGGA	0.448																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(904-906)tCa>tGa		hemicentin 1							95.0	87.0	90.0					1																	185891515		2203	4300	6503	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185891515C>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.905C>G	1.37:g.185891515C>G	ENSP00000271588:p.Ser302*					HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S302*	p.S302*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			7	1134	+			302					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.905C>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	40	8.257906	0.98729	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	19.2454	0.93901	0.0:1.0:0.0:0.0	.	.	.	.	X	302	.	ENSP00000271588:S302X	S	+	2	0	HMCN1	184158138	0.998000	0.40836	0.947000	0.38551	0.927000	0.56198	4.588000	0.60999	2.527000	0.85204	0.655000	0.94253	TCA		0.448	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		11	59	0	0	0	1	0	11	59				
SLC5A5	6528	broad.mit.edu	37	19	17983383	17983383	+	Silent	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:17983383C>G	ENST00000222248.3	+	1	602	c.255C>G	c.(253-255)ctC>ctG	p.L85L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	85					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCTATGGCCTCAAGTTCCTCT	0.672																																					Melanoma(65;1008 1708 7910 46650)	ENST00000222248.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(253-255)ctC>ctG		solute carrier family 5 (sodium/iodide cotransporter), member 5							83.0	74.0	77.0					19																	17983383		2203	4300	6503	SO:0001819	synonymous_variant	6528				cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	g.chr19:17983383C>G		CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.255C>G	19.37:g.17983383C>G							p.L85L	NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN			1	602	+			85					O43702|Q2M335|Q9NYB6	Silent	SNP	ENST00000222248.3	37	c.255C>G	CCDS12368.1																																																																																				0.672	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466690.1			7	19	0	0	0	1	0	7	19				
PHF1	5252	broad.mit.edu	37	6	33381858	33381858	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:33381858G>A	ENST00000374516.3	+	8	995	c.724G>A	c.(724-726)Gag>Aag	p.E242K	PHF1_ENST00000374512.3_Missense_Mutation_p.E242K	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	242					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CGGGGGCCCTGAGAAAGTCCG	0.527																																						ENST00000374516.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(724-726)Gag>Aag		PHD finger protein 1							122.0	117.0	119.0					6																	33381858		2203	4300	6503	SO:0001583	missense	5252				chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:33381858G>A	AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.724G>A	6.37:g.33381858G>A	ENSP00000363640:p.Glu242Lys					PHF1_ENST00000374512.3_Missense_Mutation_p.E242K	p.E242K	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN			8	995	+		Ovarian(999;0.0443)	242					B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Missense_Mutation	SNP	ENST00000374516.3	37	c.724G>A	CCDS4777.1	.	.	.	.	.	.	.	.	.	.	G	36	5.679092	0.96764	.	.	ENSG00000112511	ENST00000374512;ENST00000374516	T;T	0.20881	2.04;2.04	5.44	5.44	0.79542	Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.45756	0.1358	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.85130	0.997;0.968	T	0.48833	-0.9000	10	0.87932	D	0	-15.8951	16.8112	0.85720	0.0:0.0:1.0:0.0	.	242;242	O43189-2;O43189	.;PHF1_HUMAN	K	242	ENSP00000363636:E242K;ENSP00000363640:E242K	ENSP00000363636:E242K	E	+	1	0	PHF1	33489836	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	8.772000	0.91757	2.837000	0.97791	0.655000	0.94253	GAG		0.527	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			15	79	0	0	0	1	0	15	79				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			4	61	0	0	0	1	0	4	61				
RLF	6018	broad.mit.edu	37	1	40627183	40627183	+	Missense_Mutation	SNP	C	C	T	rs147792979	byFrequency	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:40627183C>T	ENST00000372771.4	+	1	139	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	38					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TCGGGGTCATCGCCCCGTATC	0.672													C|||	2	0.000399361	0.0	0.0014	5008	,	,		13216	0.0		0.001	False		,,,				2504	0.0					ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(112-114)Cgc>Tgc		rearranged L-myc fusion		C	CYS/ARG	4,4402	8.1+/-20.4	0,4,2199	46.0	47.0	47.0		112	2.4	1.0	1	dbSNP_134	47	28,8570	17.9+/-57.8	0,28,4271	yes	missense	RLF	NM_012421.3	180	0,32,6470	TT,TC,CC		0.3257,0.0908,0.2461	probably-damaging	38/1915	40627183	32,12972	2203	4299	6502	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40627183C>T		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.112C>T	1.37:g.40627183C>T	ENSP00000361857:p.Arg38Cys						p.R38C	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		1	139	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	38					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.112C>T	CCDS448.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	18.87	3.714516	0.68730	9.08E-4	0.003257	ENSG00000117000	ENST00000372771	T	0.16597	2.33	4.39	2.39	0.29439	.	0.208919	0.31685	N	0.007230	T	0.07458	0.0188	N	0.08118	0	0.41687	D	0.989322	P	0.42556	0.783	B	0.35353	0.201	T	0.27226	-1.0080	10	0.87932	D	0	-0.3825	8.8759	0.35345	0.1777:0.6653:0.157:0.0	.	38	Q13129	RLF_HUMAN	C	38	ENSP00000361857:R38C	ENSP00000361857:R38C	R	+	1	0	RLF	40399770	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	1.599000	0.36751	0.484000	0.27630	0.305000	0.20034	CGC		0.672	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		3	29	0	0	0	1	0	3	29				
HSP90AB1	3326	broad.mit.edu	37	6	44220884	44220884	+	Silent	SNP	C	C	A	rs373017568		TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:44220884C>A	ENST00000371554.1	+	11	2048	c.1834C>A	c.(1834-1836)Cgg>Agg	p.R612R	HSP90AB1_ENST00000371646.5_Silent_p.R612R|SLC35B2_ENST00000495706.1_5'Flank|MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000353801.3_Silent_p.R612R			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	612					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCAGGCACTTCGGGACAACTC	0.547																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(1834-1836)Cgg>Agg		heat shock protein 90kDa alpha (cytosolic), class B member 1		C		0,4406		0,0,2203	67.0	71.0	70.0		1834	2.3	1.0	6		70	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	HSP90AB1	NM_007355.2		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		612/725	44220884	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44220884C>A	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1834C>A	6.37:g.44220884C>A						HSP90AB1_ENST00000353801.3_Silent_p.R612R|HSP90AB1_ENST00000371646.5_Silent_p.R612R	p.R612R			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	2048	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		612					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	ENST00000371554.1	37	c.1834C>A	CCDS4909.1																																																																																				0.547	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		16	159	1	0	3.45872e-05	1	3.62186e-05	16	159				
ZNF804B	219578	broad.mit.edu	37	7	88965282	88965282	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr7:88965282G>A	ENST00000333190.4	+	4	3595	c.2986G>A	c.(2986-2988)Gca>Aca	p.A996T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	996							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCAAGACAGTGCAATTCCAAG	0.373										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(2986-2988)Gca>Aca		zinc finger protein 804B							84.0	83.0	83.0					7																	88965282		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965282G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2986G>A	7.37:g.88965282G>A	ENSP00000329638:p.Ala996Thr	HNSCC(36;0.09)					p.A996T	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3595	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		996					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2986G>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	5.015	0.188441	0.09547	.	.	ENSG00000182348	ENST00000333190	T	0.05139	3.49	5.34	0.633	0.17712	.	1.368930	0.04322	N	0.350937	T	0.04724	0.0128	N	0.19112	0.55	0.09310	N	1	B	0.14805	0.011	B	0.13407	0.009	T	0.42085	-0.9472	10	0.31617	T	0.26	2.3999	3.9763	0.09476	0.4438:0.0:0.3409:0.2153	.	996	A4D1E1	Z804B_HUMAN	T	996	ENSP00000329638:A996T	ENSP00000329638:A996T	A	+	1	0	ZNF804B	88803218	0.000000	0.05858	0.000000	0.03702	0.263000	0.26337	-0.383000	0.07398	0.246000	0.21394	0.655000	0.94253	GCA		0.373	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		14	216	0	0	0	1	0	14	216				
TP53	7157	broad.mit.edu	37	17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr17:7577566T>C	ENST00000269305.4	-	7	904	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000420246.2_Missense_Mutation_p.N239D|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGAACTGTTACACATGTAG	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		95	Substitution - Missense(40)|Insertion - Frameshift(18)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(7)|Unknown(5)|Substitution - Nonsense(1)|Complex - frameshift(1)|Insertion - In frame(1)	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(1)	ovary(14)|oesophagus(11)|haematopoietic_and_lymphoid_tissue(10)|biliary_tract(7)|central_nervous_system(7)|large_intestine(7)|lung(7)|breast(6)|upper_aerodigestive_tract(5)|endometrium(5)|bone(5)|urinary_tract(4)|stomach(3)|prostate(2)|liver(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(715-717)Aac>Gac	Other conserved DNA damage response genes	tumor protein p53							133.0	104.0	114.0					17																	7577566		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577566T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.715A>G	17.37:g.7577566T>C	ENSP00000269305:p.Asn239Asp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000269305.4_Missense_Mutation_p.N239D	p.N239D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	847	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	239		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.715A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.564934	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99748	-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62;-6.62	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99648	0.9870	M	0.87381	2.88	0.58432	D	0.99999	D;D;D;D;D;D	0.89917	0.999;0.972;0.999;0.999;0.999;1.0	D;P;D;D;D;D	0.91635	0.993;0.803;0.998;0.993;0.996;0.999	D	0.97636	1.0145	10	0.87932	D	0	-35.9081	11.6823	0.51466	0.0:0.0:0.0:1.0	.	239;239;146;239;239;239	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	239;239;239;239;239;239;228;146;107;146	ENSP00000410739:N239D;ENSP00000352610:N239D;ENSP00000269305:N239D;ENSP00000398846:N239D;ENSP00000391127:N239D;ENSP00000391478:N239D;ENSP00000425104:N107D;ENSP00000423862:N146D	ENSP00000269305:N239D	N	-	1	0	TP53	7518291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.074000	0.62210	0.379000	0.24179	AAC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	30	0	0	0	1	0	18	30				
ERBB4	2066	broad.mit.edu	37	2	212426726	212426726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr2:212426726G>A	ENST00000342788.4	-	20	2699	c.2389C>T	c.(2389-2391)Caa>Taa	p.Q797*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.Q787*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.Q797*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	797	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GGCATAAGTTGAGTAACCAGC	0.488										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(2389-2391)Caa>Taa		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							146.0	123.0	131.0					2																	212426726		2203	4300	6503	SO:0001587	stop_gained	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212426726G>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2389C>T	2.37:g.212426726G>A	ENSP00000342235:p.Gln797*	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Nonsense_Mutation_p.Q787*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.Q797*	p.Q797*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	20	2699	-		Renal(323;0.06)|Lung NSC(271;0.197)	797			Protein kinase.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Nonsense_Mutation	SNP	ENST00000342788.4	37	c.2389C>T	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	G	38	6.734096	0.97796	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9378	0.92592	0.0:0.0:1.0:0.0	.	.	.	.	X	797;797;787	.	ENSP00000342235:Q797X	Q	-	1	0	ERBB4	212134971	1.000000	0.71417	0.933000	0.37362	0.967000	0.64934	9.813000	0.99286	2.550000	0.86006	0.655000	0.94253	CAA		0.488	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		16	65	0	0	0	1	0	16	65				
MUC16	94025	broad.mit.edu	37	19	9089203	9089203	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:9089203T>C	ENST00000397910.4	-	1	2815	c.2612A>G	c.(2611-2613)aAt>aGt	p.N871S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	871	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CACAGATGGATTCGAAGTTTC	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(2611-2613)aAt>aGt		mucin 16, cell surface associated							84.0	85.0	85.0					19																	9089203		1947	4133	6080	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089203T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2612A>G	19.37:g.9089203T>C	ENSP00000381008:p.Asn871Ser						p.N871S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	2815	-			871			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2612A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.177	-0.388514	0.04932	.	.	ENSG00000181143	ENST00000397910	T	0.02421	4.3	1.45	-0.819	0.10829	.	.	.	.	.	T	0.01835	0.0058	N	0.19112	0.55	.	.	.	B	0.30686	0.29	B	0.22753	0.041	T	0.42241	-0.9463	8	0.87932	D	0	.	4.208	0.10498	0.0:0.4773:0.0:0.5227	.	871	B5ME49	.	S	871	ENSP00000381008:N871S	ENSP00000381008:N871S	N	-	2	0	MUC16	8950203	0.001000	0.12720	0.000000	0.03702	0.079000	0.17450	-0.291000	0.08343	-0.327000	0.08551	0.172000	0.16884	AAT		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	62	0	0	0	1	0	10	62				
LOC202181	202181	broad.mit.edu	37	5	177059130	177059130	+	RNA	SNP	T	T	G	rs6886539	byFrequency	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr5:177059130T>G	ENST00000515045.1	-	0	798					NR_026921.1																						CTTGAGGTGGTTGAGTTAGAG	0.542													N|||	2295	0.458267	0.5734	0.4395	5008	,	,		21779	0.4008		0.4493	False		,,,				2504	0.3845					ENST00000515045.1																			0																																																			202181							g.chr5:177059130T>G																													5.37:g.177059130T>G								NR_026921.1						0	798	-									RNA	SNP	ENST00000515045.1	37																																																																																						0.542	RP11-1277A3.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373167.1			3	26	0	0	0	1	0	3	26				
AP3D1	8943	broad.mit.edu	37	19	2132553	2132553	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:2132553C>T	ENST00000345016.5	-	5	610	c.379G>A	c.(379-381)Gac>Aac	p.D127N	AP3D1_ENST00000356926.4_Missense_Mutation_p.D127N|AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000355272.6_Missense_Mutation_p.D127N	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	127					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACCTGTGTCGTACTGGCTG	0.597																																						ENST00000355272.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(379-381)Gac>Aac		adaptor-related protein complex 3, delta 1 subunit							106.0	116.0	113.0					19																	2132553		2052	4189	6241	SO:0001583	missense	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2132553C>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.379G>A	19.37:g.2132553C>T	ENSP00000344055:p.Asp127Asn					AP3D1_ENST00000345016.5_Missense_Mutation_p.D127N|AP3D1_ENST00000356926.4_Missense_Mutation_p.D127N|AP3D1_ENST00000350812.6_Intron	p.D127N	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	585	-		Hepatocellular(1079;0.137)	127					O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	ENST00000345016.5	37	c.379G>A	CCDS42459.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321614	0.81580	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722	T;T;T	0.12774	2.65;2.65;2.65	4.6	4.6	0.57074	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	L	0.61218	1.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.966;0.989;0.996	T	0.05566	-1.0877	10	0.45353	T	0.12	-48.0227	16.415	0.83731	0.0:1.0:0.0:0.0	.	127;127;127	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	N	127	ENSP00000349398:D127N;ENSP00000344055:D127N;ENSP00000347416:D127N	ENSP00000341579:D127N	D	-	1	0	AP3D1	2083553	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.475000	0.81041	2.106000	0.64143	0.655000	0.94253	GAC		0.597	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			9	83	0	0	0	1	0	9	83				
ZNF614	80110	broad.mit.edu	37	19	52519999	52519999	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:52519999C>A	ENST00000270649.6	-	5	1396	c.852G>T	c.(850-852)gaG>gaT	p.E284D	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TATAGGATTTCTCTTCTGTAT	0.383																																						ENST00000270649.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(850-852)gaG>gaT		zinc finger protein 614							93.0	86.0	89.0					19																	52519999		2203	4300	6503	SO:0001583	missense	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519999C>A	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.852G>T	19.37:g.52519999C>A	ENSP00000270649:p.Glu284Asp					ZNF614_ENST00000356322.6_Intron	p.E284D	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1396	-		all_neural(266;0.0505)	284					Q494T8|Q8TCF4|Q9BSN8	Missense_Mutation	SNP	ENST00000270649.6	37	c.852G>T	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388719	0.61956	.	.	ENSG00000142556	ENST00000270649	T	0.26810	1.71	3.85	0.558	0.17266	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22975	0.0555	L	0.48986	1.54	0.23716	N	0.997038	B	0.12630	0.006	B	0.17433	0.018	T	0.28202	-1.0051	9	0.87932	D	0	.	7.9276	0.29883	0.0:0.7238:0.0:0.2762	.	284	Q8N883	ZN614_HUMAN	D	284	ENSP00000270649:E284D	ENSP00000270649:E284D	E	-	3	2	ZNF614	57211811	0.370000	0.25047	0.497000	0.27552	0.996000	0.88848	0.074000	0.14662	0.014000	0.14944	0.655000	0.94253	GAG		0.383	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		29	98	1	0	4.22769e-11	1	4.60073e-11	29	98				
DST	667	broad.mit.edu	37	6	56420405	56420405	+	Silent	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:56420405G>A	ENST00000361203.3	-	56	14248	c.14241C>T	c.(14239-14241)agC>agT	p.S4747S	DST_ENST00000446842.2_Silent_p.S4423S|DST_ENST00000370788.2_Silent_p.S2661S|DST_ENST00000244364.6_Silent_p.S2335S|DST_ENST00000421834.2_Silent_p.S2661S|DST_ENST00000370754.5_Silent_p.S4927S|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.S4749S			Q03001	DYST_HUMAN	dystonin	4747					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATCAGAAAGGCTTCTCAGCA	0.458																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(14779-14781)agC>agT		dystonin							86.0	84.0	85.0					6																	56420405		1910	4150	6060	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56420405G>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.14241C>T	6.37:g.56420405G>A						DST_ENST00000421834.2_Silent_p.S2661S|DST_ENST00000370788.2_Silent_p.S2661S|DST_ENST00000361203.3_Silent_p.S4747S|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.S2335S|DST_ENST00000370769.4_Silent_p.S4749S|DST_ENST00000446842.2_Silent_p.S4423S	p.S4927S			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		60	14780	-	Lung NSC(77;0.103)		4747					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.14781C>T																																																																																					0.458	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		11	79	0	0	0	1	0	11	79				
SUSD4	55061	broad.mit.edu	37	1	223401022	223401022	+	Silent	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:223401022G>A	ENST00000343846.3	-	6	1608	c.975C>T	c.(973-975)ttC>ttT	p.F325F	SUSD4_ENST00000454695.2_Silent_p.F165F|SUSD4_ENST00000484758.2_Silent_p.F256F|SUSD4_ENST00000494793.2_Silent_p.F325F|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Silent_p.F325F			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	325						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGGTTGCCGTGAACGCCACAA	0.587																																						ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(973-975)ttC>ttT		sushi domain containing 4							71.0	78.0	76.0					1																	223401022		2177	4275	6452	SO:0001819	synonymous_variant	55061					integral to membrane		g.chr1:223401022G>A	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.975C>T	1.37:g.223401022G>A						SUSD4_ENST00000454695.2_Silent_p.F165F|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000366878.4_Silent_p.F325F	p.F325F			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	6	1608	-			325					D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	c.975C>T	CCDS41471.1																																																																																				0.587	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		3	19	0	0	0	1	0	3	19				
ZCCHC6	79670	broad.mit.edu	37	9	88924883	88924883	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr9:88924883C>G	ENST00000375963.3	-	19	3600	c.3428G>C	c.(3427-3429)aGa>aCa	p.R1143T	ZCCHC6_ENST00000277141.6_Missense_Mutation_p.R432T|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R907T|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.R1143T|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.R81T	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1143					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ATACTTCACTCTGGGATCAAT	0.358																																						ENST00000277141.6																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1294-1296)aGa>aCa		zinc finger, CCHC domain containing 6							107.0	106.0	107.0					9																	88924883		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88924883C>G	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3428G>C	9.37:g.88924883C>G	ENSP00000365130:p.Arg1143Thr					ZCCHC6_ENST00000375963.3_Missense_Mutation_p.R1143T|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.R81T|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.R1143T|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R907T	p.R432T			Q5VYS8	TUT7_HUMAN			20	3719	-			1143					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.1295G>C	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529877	0.85706	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.81861	0.4912	M	0.92784	3.345	0.49582	D	0.999809	D;D;D	0.89917	0.996;1.0;0.999	D;D;D	0.85130	0.99;0.997;0.989	D	0.86894	0.2050	10	0.87932	D	0	-21.0671	17.8633	0.88789	0.0:1.0:0.0:0.0	.	1143;907;1143	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	T	432;907;1143;81;1143	ENSP00000277141:R432T;ENSP00000365127:R907T;ENSP00000365128:R1143T;ENSP00000365124:R81T;ENSP00000365130:R1143T	ENSP00000277141:R432T	R	-	2	0	ZCCHC6	88114703	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.939000	0.75911	2.512000	0.84698	0.655000	0.94253	AGA		0.358	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		6	51	0	0	0	1	0	6	51				
MALAT1	378938	broad.mit.edu	37	11	65273249	65273249	+	lincRNA	SNP	A	A	C	rs191309229		TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr11:65273249A>C	ENST00000534336.1	+	0	8017					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		CTCTATTATAATACTTATCCA	0.368																																						ENST00000534336.1																			0																				95.0	94.0	94.0					11																	65273249		874	1988	2862			378938							g.chr11:65273249A>C	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273249A>C								NR_002819.2						0	8017	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.368	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		27	80	0	0	0	1	0	27	80				
CRAT	1384	broad.mit.edu	37	9	131862836	131862836	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr9:131862836C>T	ENST00000318080.2	-	7	1232	c.938G>A	c.(937-939)gGc>gAc	p.G313D	CRAT_ENST00000464290.1_5'Flank|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	313					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GAGCCTGCTGCCGCCCCCATG	0.627																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(937-939)gGc>gAc		carnitine O-acetyltransferase	L-Carnitine(DB00583)						77.0	65.0	69.0					9																	131862836		2203	4300	6503	SO:0001583	missense	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131862836C>T	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.938G>A	9.37:g.131862836C>T	ENSP00000315013:p.Gly313Asp						p.G313D	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	7	1232	-			313					Q5T952|Q9BW16	Missense_Mutation	SNP	ENST00000318080.2	37	c.938G>A	CCDS6919.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363780	0.95877	.	.	ENSG00000095321	ENST00000318080	D	0.89939	-2.59	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.95056	0.8399	M	0.88450	2.955	0.80722	D	1	D	0.63046	0.992	D	0.62955	0.909	D	0.95633	0.8691	10	0.87932	D	0	-41.1042	18.4651	0.90752	0.0:1.0:0.0:0.0	.	313	P43155	CACP_HUMAN	D	313	ENSP00000315013:G313D	ENSP00000315013:G313D	G	-	2	0	CRAT	130902657	1.000000	0.71417	0.778000	0.31720	0.929000	0.56500	7.747000	0.85070	2.597000	0.87782	0.555000	0.69702	GGC		0.627	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			18	50	0	0	0	1	0	18	50				
UBR7	55148	broad.mit.edu	37	14	93693350	93693350	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr14:93693350G>C	ENST00000013070.6	+	11	1483	c.1247G>C	c.(1246-1248)aGa>aCa	p.R416T	UBR7_ENST00000416753.1_Missense_Mutation_p.R340T	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	416							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						AAGAGAAGAAGAGTGGATGGG	0.383																																						ENST00000013070.6																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						c.(1246-1248)aGa>aCa		ubiquitin protein ligase E3 component n-recognin 7 (putative)							100.0	97.0	98.0					14																	93693350		2203	4300	6503	SO:0001583	missense	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93693350G>C	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.1247G>C	14.37:g.93693350G>C	ENSP00000013070:p.Arg416Thr					UBR7_ENST00000416753.1_Missense_Mutation_p.R340T	p.R416T	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN			11	1483	+			416					Q86U21|Q86UA9|Q96BY0|Q9NVV6	Missense_Mutation	SNP	ENST00000013070.6	37	c.1247G>C	CCDS9909.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.05|18.05|18.05	3.536081|3.536081|3.536081	0.64972|0.64972|0.64972	.|.|.	.|.|.	ENSG00000012963|ENSG00000012963|ENSG00000012963	ENST00000553857|ENST00000535646;ENST00000555329|ENST00000013070;ENST00000416753	.|.|T;T	.|.|0.80824	.|.|-1.37;-1.42	5.63|5.63|5.63	3.82|3.82|3.82	0.43975|0.43975|0.43975	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	D|D|D	0.86863|0.86863|0.86863	0.6035|0.6035|0.6035	M|M|M	0.64630|0.64630|0.64630	1.985|1.985|1.985	0.50632|0.50632|0.50632	D|D|D	0.999885|0.999885|0.999885	.|.|D;P	.|.|0.89917	.|.|1.0;0.781	.|.|D;P	.|.|0.79108	.|.|0.992;0.54	D|D|D	0.86263|0.86263|0.86263	0.1656|0.1656|0.1656	5|6|10	.|0.72032|0.54805	.|D|T	.|0.01|0.06	-15.8854|-15.8854|-15.8854	12.326|12.326|12.326	0.55011|0.55011|0.55011	0.1363:0.0:0.8637:0.0|0.1363:0.0:0.8637:0.0|0.1363:0.0:0.8637:0.0	.|.|.	.|.|340;416	.|.|E9PCJ7;Q8N806	.|.|.;UBR7_HUMAN	Q|N|T	168|339;114|416;340	.|.|ENSP00000013070:R416T;ENSP00000391706:R340T	.|ENSP00000444034:K339N|ENSP00000013070:R416T	E|K|R	+|+|+	1|3|2	0|2|0	UBR7|UBR7|UBR7	92763103|92763103|92763103	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.971000|0.971000|0.971000	0.41717|0.41717|0.41717	0.803000|0.803000|0.803000	0.45373|0.45373|0.45373	7.159000|7.159000|7.159000	0.77483|0.77483|0.77483	0.749000|0.749000|0.749000	0.32854|0.32854|0.32854	-0.136000|-0.136000|-0.136000	0.14681|0.14681|0.14681	GAG|AAG|AGA		0.383	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		9	39	0	0	0	1	0	9	39				
APOL1	8542	broad.mit.edu	37	22	36653381	36653381	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr22:36653381C>G	ENST00000397278.3	+	4	344	c.115C>G	c.(115-117)Cca>Gca	p.P39A	APOL1_ENST00000347595.7_Intron|APOL1_ENST00000422706.1_Missense_Mutation_p.P39A|APOL1_ENST00000440669.2_Missense_Mutation_p.P39A|APOL1_ENST00000426053.1_Missense_Mutation_p.P21A|APOL1_ENST00000397279.4_Missense_Mutation_p.P39A|APOL1_ENST00000319136.4_Missense_Mutation_p.P55A	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	39					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						ACAAAACGTTCCAAGTGGGAC	0.562																																						ENST00000319136.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						c.(163-165)Cca>Gca		apolipoprotein L, 1							139.0	127.0	131.0					22																	36653381		2203	4300	6503	SO:0001583	missense	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36653381C>G	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.115C>G	22.37:g.36653381C>G	ENSP00000380448:p.Pro39Ala					APOL1_ENST00000347595.7_Intron|APOL1_ENST00000426053.1_Missense_Mutation_p.P21A|APOL1_ENST00000397279.4_Missense_Mutation_p.P39A|APOL1_ENST00000422706.1_Missense_Mutation_p.P39A|APOL1_ENST00000397278.3_Missense_Mutation_p.P39A|APOL1_ENST00000440669.2_Missense_Mutation_p.P39A	p.P55A	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN			5	430	+			39					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	ENST00000397278.3	37	c.163C>G	CCDS13926.1	.	.	.	.	.	.	.	.	.	.	c	11.57	1.679059	0.29783	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000438034;ENST00000427990;ENST00000397279;ENST00000433768;ENST00000440669	T;T;T;T;T;T	0.25250	3.43;3.43;3.7;3.33;1.81;3.43	1.98	0.849	0.18972	.	4.184530	0.02386	U	0.079250	T	0.18045	0.0433	N	0.24115	0.695	0.09310	N	0.999999	B;B;B	0.30870	0.197;0.197;0.298	B;B;B	0.21546	0.016;0.016;0.035	T	0.27673	-1.0067	10	0.87932	D	0	.	6.5209	0.22275	0.0:0.4989:0.5011:0.0	.	21;39;55	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	A	39;39;21;55;68;39;39;39;39	ENSP00000380448:P39A;ENSP00000411507:P39A;ENSP00000388477:P21A;ENSP00000317674:P55A;ENSP00000391302:P39A;ENSP00000380449:P39A	ENSP00000317674:P55A	P	+	1	0	APOL1	34983327	0.000000	0.05858	0.009000	0.14445	0.002000	0.02628	-0.091000	0.11146	0.340000	0.23745	0.306000	0.20318	CCA		0.562	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4	NM_145343		12	62	0	0	0	1	0	12	62				
CASP5	838	broad.mit.edu	37	11	104879599	104879599	+	Missense_Mutation	SNP	A	A	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr11:104879599A>C	ENST00000260315.3	-	2	115	c.116T>G	c.(115-117)gTg>gGg	p.V39G	CASP5_ENST00000393141.2_Missense_Mutation_p.V52G|CASP5_ENST00000393139.2_Missense_Mutation_p.V6G|CASP5_ENST00000526056.1_Missense_Mutation_p.V52G|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	39					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTGTCCAGCCACGTTGTTCTT	0.373																																						ENST00000393141.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(154-156)gTg>gGg		caspase 5, apoptosis-related cysteine peptidase							151.0	137.0	142.0					11																	104879599		2202	4299	6501	SO:0001583	missense	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104879599A>C		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.116T>G	11.37:g.104879599A>C	ENSP00000260315:p.Val39Gly					CASP5_ENST00000260315.3_Missense_Mutation_p.V39G|CASP5_ENST00000526056.1_Missense_Mutation_p.V52G|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000393139.2_Missense_Mutation_p.V6G|CASP5_ENST00000418434.1_Intron	p.V52G	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	2	186	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	39					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	c.155T>G	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	4.241	0.043771	0.08196	.	.	ENSG00000137757	ENST00000393141;ENST00000393139;ENST00000260315;ENST00000526056;ENST00000456094	T;T;T;T;T	0.32023	4.63;1.47;4.66;4.63;2.8	1.15	-2.3	0.06785	.	.	.	.	.	T	0.11965	0.0291	N	0.08118	0	0.09310	N	1	B;B	0.23058	0.047;0.079	B;B	0.14023	0.005;0.01	T	0.18493	-1.0335	9	0.62326	D	0.03	.	1.5333	0.02540	0.3884:0.0:0.304:0.3076	.	39;52	P51878;P51878-5	CASP5_HUMAN;.	G	52;6;39;52;23	ENSP00000376849:V52G;ENSP00000376847:V6G;ENSP00000260315:V39G;ENSP00000436877:V52G;ENSP00000415241:V23G	ENSP00000260315:V39G	V	-	2	0	CASP5	104384809	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.649000	0.05384	-0.831000	0.04256	-0.417000	0.06048	GTG		0.373	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347		21	77	0	0	0	1	0	21	77				
EPHA7	2045	broad.mit.edu	37	6	94068105	94068105	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:94068105G>A	ENST00000369303.4	-	4	1041	c.857C>T	c.(856-858)tCt>tTt	p.S286F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	286	Cys-rich.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTGAGAGGAAGACTTGTAGAA	0.403																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(856-858)tCt>tTt		EPH receptor A7							76.0	72.0	73.0					6																	94068105		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94068105G>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.857C>T	6.37:g.94068105G>A	ENSP00000358309:p.Ser286Phe						p.S286F	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	4	1041	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	286			Cys-rich.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.857C>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503261	0.64298	.	.	ENSG00000135333	ENST00000369303	T	0.29142	1.58	5.62	5.62	0.85841	Tyrosine-protein kinase ephrin type A/B receptor-like (1);Growth factor, receptor (1);	0.120486	0.56097	D	0.000021	T	0.44953	0.1318	M	0.66506	2.035	0.80722	D	1	D;P;P	0.64830	0.994;0.799;0.695	P;B;B	0.59889	0.865;0.149;0.176	T	0.34502	-0.9826	10	0.54805	T	0.06	.	19.6472	0.95784	0.0:0.0:1.0:0.0	.	286;286;286	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	F	286	ENSP00000358309:S286F	ENSP00000358309:S286F	S	-	2	0	EPHA7	94124826	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.830000	0.86741	2.652000	0.90054	0.655000	0.94253	TCT		0.403	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			3	32	0	0	0	1	0	3	32				
MRRF	92399	broad.mit.edu	37	9	125047560	125047560	+	Silent	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr9:125047560C>T	ENST00000344641.3	+	4	764	c.453C>T	c.(451-453)ttC>ttT	p.F151F	MRRF_ENST00000373723.5_Silent_p.F151F|MRRF_ENST00000373729.1_Silent_p.F107F|MRRF_ENST00000373724.1_3'UTR|MRRF_ENST00000394315.3_Silent_p.F151F|MRRF_ENST00000546115.1_Silent_p.F151F|MRRF_ENST00000297908.3_Silent_p.F99F|MRRF_ENST00000373730.3_Silent_p.F151F	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	151					ribosome disassembly (GO:0032790)|translation (GO:0006412)	mitochondrion (GO:0005739)				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						TGGCCAGCTTCCCAGAGGTAA	0.478																																						ENST00000344641.3																			0				breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						c.(451-453)ttC>ttT		mitochondrial ribosome recycling factor							82.0	86.0	85.0					9																	125047560		2203	4300	6503	SO:0001819	synonymous_variant	92399				ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity	g.chr9:125047560C>T	AA115320	CCDS6840.1, CCDS48013.1, CCDS55336.1	9q32-q34.1	2008-02-05			ENSG00000148187	ENSG00000148187			7234	protein-coding gene	gene with protein product		604602				9838146, 10773675	Standard	NM_001173512		Approved	RRF	uc010mwa.3	Q96E11	OTTHUMG00000020600	ENST00000344641.3:c.453C>T	9.37:g.125047560C>T						MRRF_ENST00000373723.4_Silent_p.F151F|MRRF_ENST00000546115.1_Silent_p.F151F|MRRF_ENST00000373727.1_Silent_p.F151F|MRRF_ENST00000373728.1_Silent_p.F151F|MRRF_ENST00000394315.3_Silent_p.F151F|MRRF_ENST00000373729.1_Silent_p.F107F|MRRF_ENST00000373730.3_Silent_p.F151F|MRRF_ENST00000297908.3_Silent_p.F99F	p.F151F	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN			4	764	+			151					A8K6D8|A8K6Z4|B7Z4X5|B7Z6P7|Q5RKT1|Q5T7T0|Q5T7T1|Q5T7T2|Q5T7T3|Q5T7T4|Q5T7T5	Silent	SNP	ENST00000344641.3	37	c.453C>T	CCDS6840.1																																																																																				0.478	MRRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053914.1	NM_138777		7	100	0	0	0	1	0	7	100				
NT5C1A	84618	broad.mit.edu	37	1	40131868	40131868	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:40131868C>T	ENST00000235628.1	-	2	175	c.176G>A	c.(175-177)cGa>cAa	p.R59Q		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	59					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AAACAAGGCTCGGGAGGACAC	0.582																																						ENST00000235628.1																			0				breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15						c.(175-177)cGa>cAa		5'-nucleotidase, cytosolic IA							95.0	77.0	83.0					1																	40131868		2203	4300	6503	SO:0001583	missense	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40131868C>T	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.176G>A	1.37:g.40131868C>T	ENSP00000235628:p.Arg59Gln						p.R59Q	NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	175	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	59					Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	c.176G>A	CCDS440.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785870	0.90282	.	.	ENSG00000116981	ENST00000235628	.	.	.	4.56	4.56	0.56223	.	0.068728	0.64402	D	0.000014	T	0.57213	0.2038	M	0.71206	2.165	0.80722	D	1	P	0.43094	0.799	B	0.36378	0.223	T	0.67872	-0.5558	9	0.62326	D	0.03	-0.1111	17.7572	0.88452	0.0:1.0:0.0:0.0	.	59	Q9BXI3	5NT1A_HUMAN	Q	59	.	ENSP00000235628:R59Q	R	-	2	0	NT5C1A	39904455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.082000	0.71318	2.271000	0.75665	0.650000	0.86243	CGA		0.582	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		6	47	0	0	0	1	0	6	47				
MAPKAPK5	8550	broad.mit.edu	37	12	112323725	112323725	+	Missense_Mutation	SNP	T	T	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr12:112323725T>A	ENST00000551404.2	+	10	962	c.854T>A	c.(853-855)cTg>cAg	p.L285Q	MAPKAPK5_ENST00000550735.2_Missense_Mutation_p.L285Q			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	285	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						CACAGGCTCCTGAAGGTCAAA	0.552																																						ENST00000550735.2																			0				endometrium(1)|lung(11)|ovary(1)	13						c.(853-855)cTg>cAg		mitogen-activated protein kinase-activated protein kinase 5							65.0	67.0	67.0					12																	112323725		1942	4153	6095	SO:0001583	missense	8550				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112323725T>A	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.854T>A	12.37:g.112323725T>A	ENSP00000449381:p.Leu285Gln					MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.L285Q	p.L285Q	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN			10	1610	+			285			Protein kinase.		B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Missense_Mutation	SNP	ENST00000551404.2	37	c.854T>A	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.945772	0.92593	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000553053;ENST00000551404	T;T	0.61627	0.09;0.09	5.76	5.76	0.90799	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86510	0.5950	H	0.99299	4.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;0.999;0.991	D	0.92267	0.5822	10	0.87932	D	0	.	16.0916	0.81094	0.0:0.0:0.0:1.0	.	279;285;285	C9J458;Q8IW41;Q8IW41-2	.;MAPK5_HUMAN;.	Q	285;285;285;52;285	ENSP00000449667:L285Q;ENSP00000449381:L285Q	ENSP00000202788:L285Q	L	+	2	0	MAPKAPK5	110808108	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.625000	0.83145	2.186000	0.69663	0.533000	0.62120	CTG		0.552	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078		10	60	0	0	0	1	0	10	60				
DST	667	broad.mit.edu	37	6	56765377	56765377	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:56765377C>T	ENST00000370754.5	-	3	258	c.259G>A	c.(259-261)Gcg>Acg	p.A87T				Q03001	DYST_HUMAN	dystonin	0	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTGCGGCCGCTGCAACTCGT	0.493																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(259-261)Gcg>Acg		dystonin							52.0	51.0	51.0					6																	56765377		1568	3582	5150	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56765377C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370754.5:c.259G>A	6.37:g.56765377C>T	ENSP00000359790:p.Ala87Thr						p.A87T			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		3	258	-	Lung NSC(77;0.103)		0			Actin-binding.|CH 1.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370754.5	37	c.259G>A		.	.	.	.	.	.	.	.	.	.	C	12.29	1.893180	0.33442	.	.	ENSG00000151914	ENST00000370754;ENST00000449297	T;D	0.95412	-0.67;-3.7	3.42	3.42	0.39159	.	.	.	.	.	D	0.95962	0.8685	.	.	.	0.20821	N	0.999841	D	0.57571	0.98	D	0.68192	0.956	D	0.94663	0.7850	7	0.41790	T	0.15	.	10.6558	0.45673	0.0:1.0:0.0:0.0	.	87	E9PEB9	.	T	87	ENSP00000359790:A87T;ENSP00000393082:A87T	ENSP00000359790:A87T	A	-	1	0	DST	56873336	0.221000	0.23642	0.780000	0.31762	0.248000	0.25809	2.919000	0.48836	2.207000	0.71202	0.455000	0.32223	GCG		0.493	DST-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001723		20	89	0	0	0	1	0	20	89				
LPCAT3	10162	broad.mit.edu	37	12	7084997	7084997	+	IGR	SNP	A	A	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr12:7084997A>G	ENST00000261407.4	-	0	2268				EMG1_ENST00000546220.1_3'UTR|EMG1_ENST00000261406.6_3'UTR|LPCAT3_ENST00000535021.1_5'Flank|U47924.30_ENST00000606112.1_lincRNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TTCTGAAACCAGAAACTGTTG	0.493																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase							66.0	67.0	67.0					12																	7084997		1998	4159	6157	SO:0001628	intergenic_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7084997A>G	U72515	CCDS8572.1	12p13.31	2010-05-12	2008-06-24	2008-06-24	ENSG00000111684	ENSG00000111684			30244	protein-coding gene	gene with protein product		611950	"""O-acyltransferase (membrane bound) domain containing 5"", ""membrane bound O-acyltransferase domain containing 5"""	OACT5, MBOAT5		8723724, 9074930, 18195019	Standard	NM_005768		Approved	C3F, nessy	uc001qsi.3	Q6P1A2	OTTHUMG00000168970		12.37:g.7084997A>G						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	791	+								B2RDH0|B7Z3N3|Q7KZS1|Q92980|Q9BW40	RNA	SNP	ENST00000261407.4	37		CCDS8572.1																																																																																				0.493	LPCAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401812.1	NM_005768		13	75	0	0	0	1	0	13	75				
PLEKHA6	22874	broad.mit.edu	37	1	204234159	204234159	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:204234159C>G	ENST00000272203.3	-	6	608	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E98Q|PLEKHA6_ENST00000485632.1_5'Flank	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	98	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGGATACTCTCTTCCTTCTCA	0.592																																						ENST00000272203.3																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(292-294)Gag>Cag		pleckstrin homology domain containing, family A member 6							122.0	109.0	114.0					1																	204234159		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204234159C>G	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.292G>C	1.37:g.204234159C>G	ENSP00000272203:p.Glu98Gln					PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E98Q	p.E98Q	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		6	608	-	all_cancers(21;0.0222)|Breast(84;0.179)		98			PH.		A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.292G>C	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003282	0.93287	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.12879	2.64;2.64	5.26	5.26	0.73747	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.165132	0.52532	D	0.000074	T	0.39118	0.1066	M	0.69523	2.12	0.58432	D	0.99999	D	0.56746	0.977	D	0.74674	0.984	T	0.18713	-1.0328	10	0.87932	D	0	-30.7723	18.4621	0.90743	0.0:1.0:0.0:0.0	.	98	Q9Y2H5	PKHA6_HUMAN	Q	98	ENSP00000272203:E98Q;ENSP00000402046:E98Q	ENSP00000272203:E98Q	E	-	1	0	PLEKHA6	202500782	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.628000	0.74262	2.449000	0.82847	0.561000	0.74099	GAG		0.592	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		19	77	0	0	0	1	0	19	77				
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	lincRNA	SNP	C	C	G	rs1996904		TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508									long intergenic non-protein coding RNA 969																		TGTCACGAATCTTGACAAATT	0.418																																						ENST00000445430.1																			0																																																			440993							g.chr3:195404651C>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195404651C>G														0	1508	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.418	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	63	0	0	0	1	0	4	63				
PHF2	5253	broad.mit.edu	37	9	96408047	96408047	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr9:96408047G>A	ENST00000359246.4	+	4	803	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	146					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CACGTTCTATGTCAGTGACGT	0.622																																						ENST00000359246.4																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(436-438)Gtc>Atc		PHD finger protein 2							63.0	58.0	60.0					9																	96408047		2203	4300	6503	SO:0001583	missense	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96408047G>A	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.436G>A	9.37:g.96408047G>A	ENSP00000352185:p.Val146Ile					PHF2_ENST00000375376.4_Intron	p.V146I	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	4	803	+		Myeloproliferative disorder(762;0.0255)	146					Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	ENST00000359246.4	37	c.436G>A	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987010	0.53934	.	.	ENSG00000197724	ENST00000359246	T	0.72051	-0.62	4.76	3.86	0.44501	.	0.079356	0.53938	D	0.000059	T	0.59059	0.2166	L	0.31664	0.95	0.80722	D	1	B	0.15141	0.012	B	0.18561	0.022	T	0.56601	-0.7952	10	0.46703	T	0.11	-31.0092	12.9824	0.58572	0.0782:0.0:0.9218:0.0	.	146	O75151	PHF2_HUMAN	I	146	ENSP00000352185:V146I	ENSP00000352185:V146I	V	+	1	0	PHF2	95447868	1.000000	0.71417	0.672000	0.29872	0.226000	0.24999	7.178000	0.77657	1.232000	0.43678	0.460000	0.39030	GTC		0.622	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		15	70	0	0	0	1	0	15	70				
SPHK2	56848	broad.mit.edu	37	19	49131018	49131018	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr19:49131018G>A	ENST00000245222.4	+	4	947	c.581G>A	c.(580-582)gGc>gAc	p.G194D	SPHK2_ENST00000340932.3_Missense_Mutation_p.G158D|SPHK2_ENST00000600537.1_Missense_Mutation_p.G135D|SPHK2_ENST00000601712.1_Missense_Mutation_p.G158D|SPHK2_ENST00000598088.1_Missense_Mutation_p.G194D|SPHK2_ENST00000599029.1_Missense_Mutation_p.G158D|SPHK2_ENST00000599748.1_Missense_Mutation_p.G158D|SPHK2_ENST00000443164.1_Missense_Mutation_p.G256D	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	194	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)	p.G194D(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGGGGTCGGGGCCTGGCCTGG	0.592																																						ENST00000443164.1																			1	Substitution - Missense(1)	p.G194D(1)	lung(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(766-768)gGc>gAc		sphingosine kinase 2							90.0	89.0	89.0					19																	49131018		2203	4300	6503	SO:0001583	missense	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49131018G>A	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.581G>A	19.37:g.49131018G>A	ENSP00000245222:p.Gly194Asp					SPHK2_ENST00000245222.4_Missense_Mutation_p.G194D|SPHK2_ENST00000601712.1_Missense_Mutation_p.G158D|SPHK2_ENST00000600537.1_Missense_Mutation_p.G135D|SPHK2_ENST00000340932.3_Missense_Mutation_p.G158D|SPHK2_ENST00000599748.1_Missense_Mutation_p.G158D|SPHK2_ENST00000599029.1_Missense_Mutation_p.G158D|SPHK2_ENST00000598088.1_Missense_Mutation_p.G194D	p.G256D			Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	2	1472	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	194			DAGKc.		A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	c.767G>A	CCDS12727.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.898502|4.898502	0.91962|0.91962	.|.	.|.	ENSG00000063176|ENSG00000063176	ENST00000426514|ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	.|T;T;T	.|0.26660	.|1.72;1.72;1.72	4.87|4.87	4.87|4.87	0.63330|0.63330	.|Diacylglycerol kinase, catalytic domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62563|0.62563	0.2438|0.2438	H|H	0.95539|0.95539	3.685|3.685	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.76494	.|0.996;0.999;0.997;0.999	.|D;D;D;D	.|0.69479	.|0.958;0.964;0.933;0.964	T|T	0.75314|0.75314	-0.3361|-0.3361	6|10	0.87932|0.72032	D|D	0|0.01	-25.497|-25.497	15.8678|15.8678	0.79076|0.79076	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|135;256;158;194	.|B4DU87;A0T4C8;Q9NRA0-3;Q9NRA0	.|.;.;.;SPHK2_HUMAN	T|D	37|194;167;158;256	.|ENSP00000245222:G194D;ENSP00000341091:G158D;ENSP00000413369:G256D	ENSP00000410044:A37T|ENSP00000245222:G194D	A|G	+|+	1|2	0|0	SPHK2|SPHK2	53822830|53822830	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.480000|4.480000	0.60243|0.60243	2.416000|2.416000	0.81992|0.81992	0.563000|0.563000	0.77884|0.77884	GCC|GGC		0.592	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			32	114	0	0	0	1	0	32	114				
MYCL	4610	broad.mit.edu	37	1	40363463	40363463	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:40363463C>G	ENST00000372816.2	-	2	1123	c.676G>C	c.(676-678)Gaa>Caa	p.E226Q	MYCL_ENST00000397332.2_Missense_Mutation_p.E256Q|RP1-118J21.5_ENST00000418255.1_RNA			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	226						nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GAAGCCTCTTCTTGGGAGCAG	0.537																																						ENST00000397332.2																			0											c.(766-768)Gaa>Caa		v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog							108.0	118.0	114.0					1																	40363463		2203	4300	6503	SO:0001583	missense	4610							g.chr1:40363463C>G		CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"""Basic helix-loop-helix proteins"""	7555	protein-coding gene	gene with protein product	"""l-myc protein"", ""myc-related gene from lung cancer"", ""oncogene lmyc"""	164850	"""v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"""	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.676G>C	1.37:g.40363463C>G	ENSP00000361903:p.Glu226Gln					RP1-118J21.5_ENST00000418255.1_RNA|MYCL_ENST00000372816.2_Missense_Mutation_p.E226Q	p.E256Q	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2					3	890	-								A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Missense_Mutation	SNP	ENST00000372816.2	37	c.766G>C	CCDS30682.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699148	0.30142	.	.	ENSG00000116990	ENST00000397332;ENST00000372816	T;T	0.78816	-1.0;-1.21	6.06	6.06	0.98353	.	1.311910	0.04831	N	0.438746	T	0.80292	0.4596	L	0.60067	1.865	0.80722	D	1	B	0.25719	0.132	B	0.34301	0.179	T	0.56637	-0.7946	10	0.10902	T	0.67	-15.3254	17.0321	0.86464	0.0:0.865:0.135:0.0	.	226	P12524	MYCL1_HUMAN	Q	256;226	ENSP00000380494:E256Q;ENSP00000361903:E226Q	ENSP00000361903:E226Q	E	-	1	0	MYCL1	40136050	0.443000	0.25641	0.565000	0.28409	0.788000	0.44548	4.642000	0.61383	2.882000	0.98803	0.655000	0.94253	GAA		0.537	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277004.1	NM_001033082		34	180	0	0	0	1	0	34	180				
DACT1	51339	broad.mit.edu	37	14	59113480	59113480	+	Silent	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr14:59113480C>T	ENST00000335867.4	+	4	2163	c.2139C>T	c.(2137-2139)taC>taT	p.Y713Y	DACT1_ENST00000395153.3_Silent_p.Y676Y|DACT1_ENST00000556859.1_Silent_p.Y432Y|DACT1_ENST00000541264.2_Silent_p.Y432Y			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	713					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)			endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CTCTGCCCTACGCCAGCCCCT	0.672																																						ENST00000395153.3																			0				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						c.(2026-2028)taC>taT		dishevelled-binding antagonist of beta-catenin 1							33.0	36.0	35.0					14																	59113480		2203	4300	6503	SO:0001819	synonymous_variant	51339				multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr14:59113480C>T	AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.2139C>T	14.37:g.59113480C>T						DACT1_ENST00000541264.2_Silent_p.Y432Y|DACT1_ENST00000556859.1_Silent_p.Y432Y|DACT1_ENST00000335867.4_Silent_p.Y713Y|DACT1_ENST00000395151.3_Silent_p.Y432Y	p.Y676Y	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN			4	2175	+			713					A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	c.2028C>T	CCDS9736.1																																																																																				0.672	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1	NM_016651		14	64	0	0	0	1	0	14	64				
C3orf30	152405	broad.mit.edu	37	3	118865466	118865466	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr3:118865466G>A	ENST00000295622.1	+	1	470	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	IGSF11_ENST00000441144.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	144										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AAGAACTGCTGAACAGACTGA	0.488																																						ENST00000295622.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34						c.(430-432)Gaa>Aaa		chromosome 3 open reading frame 30							55.0	51.0	53.0					3																	118865466		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865466G>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.430G>A	3.37:g.118865466G>A	ENSP00000295622:p.Glu144Lys						p.E144K	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	470	+			144					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.430G>A	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466942	0.26335	.	.	ENSG00000163424	ENST00000295622;ENST00000470341	T	0.24723	1.84	3.26	0.379	0.16213	.	.	.	.	.	T	0.16085	0.0387	L	0.36672	1.1	0.09310	N	1	B;B	0.27932	0.194;0.094	B;B	0.29785	0.107;0.027	T	0.35992	-0.9766	9	0.07990	T	0.79	0.1416	6.877	0.24153	0.1066:0.3714:0.522:0.0	.	144;144	E9PFE5;Q96M34	.;CC030_HUMAN	K	144	ENSP00000295622:E144K	ENSP00000295622:E144K	E	+	1	0	C3orf30	120348156	0.039000	0.19947	0.002000	0.10522	0.016000	0.09150	0.471000	0.22100	0.060000	0.16281	-0.463000	0.05309	GAA		0.488	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		13	55	0	0	0	1	0	13	55				
SRCAP	10847	broad.mit.edu	37	16	30750523	30750523	+	Silent	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr16:30750523C>G	ENST00000262518.4	+	34	9547	c.9162C>G	c.(9160-9162)tcC>tcG	p.S3054S	SRCAP_ENST00000344771.4_Silent_p.S2896S|RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Silent_p.S2992S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	3054					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGGTAGTTCCTCTGATGAGG	0.632																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(9160-9162)tcC>tcG		Snf2-related CREBBP activator protein							50.0	46.0	48.0					16																	30750523		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30750523C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.9162C>G	16.37:g.30750523C>G						SRCAP_ENST00000395059.2_Silent_p.S2992S|SRCAP_ENST00000344771.4_Silent_p.S2896S	p.S3054S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	9547	+			3054					B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.9162C>G	CCDS10689.2																																																																																				0.632	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		12	48	0	0	0	1	0	12	48				
CATSPER2P1	440278	broad.mit.edu	37	15	44029016	44029016	+	RNA	SNP	C	C	G			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr15:44029016C>G	ENST00000381680.2	-	0	768				RNU6-354P_ENST00000383862.1_RNA	NR_002318.2				cation channel, sperm associated 2 pseudogene 1																		AACGAACCCTCAGGATCTCTA	0.368																																						ENST00000381680.2																			0																																																			440278							g.chr15:44029016C>G	BC066967		15q15.3	2010-07-12			ENSG00000205771	ENSG00000205771			31054	pseudogene	pseudogene							Standard	NR_002318		Approved		uc001zss.3		OTTHUMG00000059938		15.37:g.44029016C>G								NR_002318.2						0	768	-									RNA	SNP	ENST00000381680.2	37																																																																																						0.368	CATSPER2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000133242.1	NR_002318		19	62	0	0	0	1	0	19	62				
SNRNP25	79622	broad.mit.edu	37	16	107117	107117	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr16:107117T>C	ENST00000383018.3	+	5	534	c.373T>C	c.(373-375)Ttc>Ctc	p.F125L		NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN	small nuclear ribonucleoprotein 25kDa (U11/U12)	125	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				large_intestine(1)|lung(2)	3						CGAGGTTTCCTTCATCAAAAA	0.507																																						ENST00000383018.3																			0				large_intestine(1)|lung(2)	3						c.(373-375)Ttc>Ctc		small nuclear ribonucleoprotein 25kDa (U11/U12)							196.0	191.0	193.0					16																	107117		2203	4300	6503	SO:0001583	missense	79622				mRNA processing	U12-type spliceosomal complex		g.chr16:107117T>C	BC001381	CCDS10396.1	16p13.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000161981	ENSG00000161981			14161	protein-coding gene	gene with protein product	"""U11/U12 snRNP 25K"""		"""chromosome 16 open reading frame 33"""	C16orf33		15146077	Standard	NM_024571		Approved		uc002cfj.4	Q9BV90	OTTHUMG00000060720	ENST00000383018.3:c.373T>C	16.37:g.107117T>C	ENSP00000372482:p.Phe125Leu						p.F125L	NM_024571.3	NP_078847.1	Q9BV90	SNR25_HUMAN			5	534	+			125			Ubiquitin-like.		Q1W6H3|Q6IEF8|Q9H5W4	Missense_Mutation	SNP	ENST00000383018.3	37	c.373T>C	CCDS10396.1	.	.	.	.	.	.	.	.	.	.	.	32	5.187746	0.94923	.	.	ENSG00000161981	ENST00000293861;ENST00000383018	T;T	0.05925	3.37;3.37	5.6	5.6	0.85130	Ubiquitin supergroup (1);	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.00754	-1.1580	10	0.72032	D	0.01	-21.4818	14.5981	0.68422	0.0:0.0:0.0:1.0	.	125	Q9BV90	SNR25_HUMAN	L	116;125	ENSP00000293861:F116L;ENSP00000372482:F125L	ENSP00000293861:F116L	F	+	1	0	SNRNP25	47117	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	6.741000	0.74837	2.139000	0.66308	0.482000	0.46254	TTC		0.507	SNRNP25-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024571		37	150	0	0	0	1	0	37	150				
CHAT	1103	broad.mit.edu	37	10	50863262	50863262	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr10:50863262G>T	ENST00000337653.2	+	12	1909	c.1756G>T	c.(1756-1758)Gac>Tac	p.D586Y	CHAT_ENST00000455728.2_Missense_Mutation_p.D468Y|CHAT_ENST00000339797.1_Missense_Mutation_p.D468Y|CHAT_ENST00000395559.2_Missense_Mutation_p.D468Y|CHAT_ENST00000395562.2_Missense_Mutation_p.D504Y|CHAT_ENST00000351556.3_Missense_Mutation_p.D468Y	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	586					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	AGCCGTGACTGACCACAAGGC	0.637																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1510-1512)Gac>Tac		choline O-acetyltransferase	Choline(DB00122)						67.0	62.0	64.0					10																	50863262		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50863262G>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1756G>T	10.37:g.50863262G>T	ENSP00000337103:p.Asp586Tyr					CHAT_ENST00000351556.3_Missense_Mutation_p.D468Y|CHAT_ENST00000339797.1_Missense_Mutation_p.D468Y|CHAT_ENST00000337653.2_Missense_Mutation_p.D586Y|CHAT_ENST00000455728.2_Missense_Mutation_p.D468Y|CHAT_ENST00000395559.2_Missense_Mutation_p.D468Y	p.D504Y	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	13	1979	+		all_neural(218;0.107)	586					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1510G>T	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443717	0.83993	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66;-2.66	5.36	5.36	0.76844	.	0.204155	0.51477	D	0.000095	D	0.95959	0.8684	M	0.86953	2.85	0.54753	D	0.999988	D;D	0.89917	0.991;1.0	P;D	0.71184	0.84;0.972	D	0.96448	0.9332	10	0.87932	D	0	-18.9473	19.0718	0.93140	0.0:0.0:1.0:0.0	.	468;586	F8W8I2;P28329	.;CLAT_HUMAN	Y	468;468;468;586;504;468	ENSP00000343486:D468Y;ENSP00000345878:D468Y;ENSP00000378926:D468Y;ENSP00000337103:D586Y;ENSP00000378929:D504Y;ENSP00000390521:D468Y	ENSP00000337103:D586Y	D	+	1	0	CHAT	50533268	1.000000	0.71417	0.610000	0.28997	0.981000	0.71138	9.168000	0.94781	2.514000	0.84764	0.591000	0.81541	GAC		0.637	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		10	116	1	0	2.17888e-05	1	2.30338e-05	10	116				
DLX3	1747	broad.mit.edu	37	17	48072347	48072347	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr17:48072347C>A	ENST00000434704.2	-	1	241	c.16G>T	c.(16-18)Gat>Tat	p.D6Y	DLX3_ENST00000512495.2_5'Flank|RP11-1094H24.3_ENST00000511867.1_lincRNA	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	6					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						AGCTTGCGATCGAAGGAGCCA	0.647																																						ENST00000434704.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						c.(16-18)Gat>Tat		distal-less homeobox 3							37.0	34.0	35.0					17																	48072347		2203	4300	6503	SO:0001583	missense	1747					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48072347C>A		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.16G>T	17.37:g.48072347C>A	ENSP00000389870:p.Asp6Tyr						p.D6Y	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN			1	241	-			6					B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	c.16G>T	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907296	0.72868	.	.	ENSG00000064195	ENST00000434704	D	0.92699	-3.09	4.65	4.65	0.58169	.	0.129468	0.51477	D	0.000098	D	0.94138	0.8120	L	0.49778	1.585	0.80722	D	1	D	0.65815	0.995	D	0.67231	0.95	D	0.94660	0.7847	10	0.87932	D	0	-14.9122	15.0647	0.71983	0.0:1.0:0.0:0.0	.	6	O60479	DLX3_HUMAN	Y	6	ENSP00000389870:D6Y	ENSP00000389870:D6Y	D	-	1	0	DLX3	45427346	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.472000	0.60189	2.426000	0.82243	0.491000	0.48974	GAT		0.647	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			5	30	1	0	0.00116845	1	0.0012009	5	30				
EYS	346007	broad.mit.edu	37	6	66054005	66054005	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:66054005C>T	ENST00000370621.3	-	10	2051	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	EYS_ENST00000393380.2_Missense_Mutation_p.E509K|EYS_ENST00000370616.2_Missense_Mutation_p.E509K|EYS_ENST00000370618.3_Missense_Mutation_p.E509K|EYS_ENST00000342421.5_Missense_Mutation_p.E509K|EYS_ENST00000503581.1_Missense_Mutation_p.E509K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	509					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTTGCATCTTCAGTGCAGTTT	0.353																																						ENST00000503581.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.(1525-1527)Gaa>Aaa		eyes shut homolog (Drosophila)							95.0	97.0	96.0					6																	66054005		2203	4300	6503	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66054005C>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1525G>A	6.37:g.66054005C>T	ENSP00000359655:p.Glu509Lys					EYS_ENST00000370621.3_Missense_Mutation_p.E509K|EYS_ENST00000393380.2_Missense_Mutation_p.E509K|EYS_ENST00000370616.2_Missense_Mutation_p.E509K|EYS_ENST00000370618.3_Missense_Mutation_p.E509K|EYS_ENST00000342421.5_Missense_Mutation_p.E509K	p.E509K	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN			10	2062	-			509					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1525G>A		.	.	.	.	.	.	.	.	.	.	c	1.941	-0.443540	0.04604	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.21191	2.02;2.02;2.02;2.02;2.02;2.02	4.22	-0.483	0.12075	.	.	.	.	.	T	0.03178	0.0093	N	0.14661	0.345	0.09310	N	1	B;B;B	0.24258	0.007;0.1;0.061	B;B;B	0.19666	0.009;0.026;0.011	T	0.41088	-0.9528	9	0.62326	D	0.03	.	2.8632	0.05593	0.1669:0.4012:0.3273:0.1047	.	509;509;509	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	K	509	ENSP00000424243:E509K;ENSP00000359655:E509K;ENSP00000359650:E509K;ENSP00000377042:E509K;ENSP00000341818:E509K;ENSP00000359652:E509K	ENSP00000341818:E509K	E	-	1	0	EYS	66110726	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.048000	0.11944	0.220000	0.20860	-0.282000	0.10007	GAA		0.353	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		7	76	0	0	0	1	0	7	76				
NEK7	140609	broad.mit.edu	37	1	198288545	198288545	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr1:198288545C>T	ENST00000367385.4	+	10	1144	c.802C>T	c.(802-804)Cga>Tga	p.R268*	NEK7_ENST00000538004.1_Nonsense_Mutation_p.R268*	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	268	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TTCACAGCTCCGACAGTTAGT	0.378																																						ENST00000367385.4																			0				endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(802-804)Cga>Tga		NIMA-related kinase 7							88.0	81.0	83.0					1																	198288545		2203	4300	6503	SO:0001587	stop_gained	140609					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:198288545C>T	AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"""NIMA (never in mitosis gene a)-related kinase 7"""			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.802C>T	1.37:g.198288545C>T	ENSP00000356355:p.Arg268*					NEK7_ENST00000538004.1_Nonsense_Mutation_p.R268*	p.R268*	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN			10	1144	+			268			Protein kinase.		A6NGT8	Nonsense_Mutation	SNP	ENST00000367385.4	37	c.802C>T	CCDS1394.1	.	.	.	.	.	.	.	.	.	.	C	37	6.439869	0.97568	.	.	ENSG00000151414	ENST00000367385;ENST00000538004	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4923	0.95056	0.0:1.0:0.0:0.0	.	.	.	.	X	268	.	ENSP00000356355:R268X	R	+	1	2	NEK7	196555168	1.000000	0.71417	0.767000	0.31495	0.695000	0.40330	4.083000	0.57643	2.607000	0.88179	0.650000	0.86243	CGA		0.378	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086550.2	NM_133494		3	27	0	0	0	1	0	3	27				
ZBTB24	9841	broad.mit.edu	37	6	109787621	109787622	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr6:109787621_109787622insA	ENST00000230122.3	-	7	1693_1694	c.1526_1527insT	c.(1525-1527)ttgfs	p.L509fs	MICAL1_ENST00000368952.4_5'Flank	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	509					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TATGAATTTTCAAGTGAGCCTT	0.45																																						ENST00000230122.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(1525-1527)taafs		zinc finger and BTB domain containing 24																																				SO:0001589	frameshift_variant	9841				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:109787621_109787622insA	AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1527dupT	6.37:g.109787623_109787623dupA	ENSP00000230122:p.Leu509fs						p.*509fs	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)	7	1693_1694	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	509					Q17RC6|Q5TED5|Q8N455	Frame_Shift_Ins	INS	ENST00000230122.3	37	c.1526_1527insT	CCDS34509.1																																																																																				0.450	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797		27	112						27	112	---	---	---	---
CBWD3	445571	broad.mit.edu	37	9	70900911	70900912	+	Frame_Shift_Ins	INS	-	-	A	rs200498038|rs367958837	byFrequency	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr9:70900911_70900912insA	ENST00000360171.6	+	11	1322_1323	c.771_772insA	c.(772-774)aaafs	p.K258fs	CBWD3_ENST00000377342.5_Frame_Shift_Ins_p.K238fs	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	258							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		TTAGTTTGCAGAAAAAACTTCA	0.317													|||unknown(NO_COVERAGE)	2457	0.490615	0.4319	0.5951	5008	,	,		19815	0.4355		0.5934	False		,,,				2504	0.4468					ENST00000360171.6																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(769-774)caaaaafs		COBW domain containing 3				42,54		20,2,26						3.1	1.0			1	91,101		44,3,49	no	frameshift	CBWD3	NM_201453.2		64,5,75	A1A1,A1R,RR		47.3958,43.75,46.1806				133,155				SO:0001589	frameshift_variant	445571						ATP binding	g.chr9:70900911_70900912insA	BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.777dupA	9.37:g.70900917_70900917dupA	ENSP00000353295:p.Lys258fs					CBWD3_ENST00000377342.5_Frame_Shift_Ins_p.QK237fs	p.QK257fs	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN		all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)	11	1322_1323	+			257					B4DNG9|Q6VB91	Frame_Shift_Ins	INS	ENST00000360171.6	37	c.771_772insA	CCDS35038.1																																																																																				0.317	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052526.1	NM_201453		5	4						5	4	---	---	---	---
YME1L1	10730	broad.mit.edu	37	10	27408260	27408261	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr10:27408260_27408261insA	ENST00000326799.3	-	15	1848_1849	c.1700_1701insT	c.(1699-1701)atgfs	p.M567fs	YME1L1_ENST00000376016.3_Frame_Shift_Ins_p.M510fs|YME1L1_ENST00000375972.3_Frame_Shift_Ins_p.M477fs	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	567					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCAGCTCCTTCATGGTAACCAT	0.386																																						ENST00000326799.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1699-1701)aaafs		YME1-like 1 ATPase																																				SO:0001589	frameshift_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27408260_27408261insA	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1701dupT	10.37:g.27408261_27408261dupA	ENSP00000318480:p.Met567fs					YME1L1_ENST00000375972.3_Frame_Shift_Ins_p.K477fs|YME1L1_ENST00000376016.3_Frame_Shift_Ins_p.K510fs	p.K567fs	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN			15	1848_1849	-			567					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Frame_Shift_Ins	INS	ENST00000326799.3	37	c.1700_1701insT	CCDS7152.1																																																																																				0.386	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		26	120						26	120	---	---	---	---
ACTN3	89	broad.mit.edu	37	11	66321927	66321928	+	RNA	INS	-	-	A	rs56394515|rs574346914	byFrequency	TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr11:66321927_66321928insA	ENST00000502692.1	+	0	714				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						gaccctgtctcaaaaaaaaaaa	0.54													|||unknown(HR)	1645	0.328474	0.4433	0.2493	5008	,	,		13398	0.3323		0.3549	False		,,,				2504	0.1984					ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)																																						89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66321927_66321928insA	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66321938_66321938dupA						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	566	+								A6NP77|Q4KKV2	RNA	INS	ENST00000502692.1	37																																																																																						0.540	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		3	5						3	5	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546788	11546790	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr12:11546788_11546790delGGA	ENST00000389362.4	-	3	257_259	c.222_224delTCC	c.(220-225)cctcca>cca	p.74_75PP>P	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	74	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTTTCCTGGAGGAGGTGGGG	0.601																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(220-225)cca>cc		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546788_11546790delGGA	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.222_224delTCC	12.37:g.11546791_11546793delGGA	ENSP00000374013:p.Pro75del					PRB1_ENST00000546254.1_Intron	p.PP74del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	257_259	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.222_224delTCC	CCDS41757.2																																																																																				0.601	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	566						7	566	---	---	---	---
DHRS4	10901	broad.mit.edu	37	14	24424399	24424400	+	Frame_Shift_Ins	INS	-	-	C			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr14:24424399_24424400insC	ENST00000313250.5	+	2	487_488	c.284_285insC	c.(283-288)gaccggfs	p.R96fs	DHRS4_ENST00000559632.1_Frame_Shift_Ins_p.R96fs|DHRS4_ENST00000397074.3_Frame_Shift_Ins_p.R96fs|DHRS4_ENST00000421831.1_Frame_Shift_Ins_p.R78fs|DHRS4_ENST00000308178.8_Frame_Shift_Ins_p.R78fs|DHRS4_ENST00000382761.3_Frame_Shift_Ins_p.R78fs|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000543741.2_Frame_Shift_Ins_p.R96fs|DHRS4_ENST00000397073.2_Frame_Shift_Ins_p.R78fs|DHRS4_ENST00000558263.1_Frame_Shift_Ins_p.R96fs|DHRS4_ENST00000397075.3_Frame_Shift_Ins_p.R96fs|DHRS4_ENST00000558581.1_Frame_Shift_Ins_p.R96fs	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	96					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	AAGGCGGAGGACCGGGAGCGGC	0.668																																						ENST00000313250.5																			0				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(283-285)gcgfs		dehydrogenase/reductase (SDR family) member 4	Vitamin A(DB00162)																																			SO:0001589	frameshift_variant	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24424399_24424400insC	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.286dupC	14.37:g.24424401_24424401dupC	ENSP00000326219:p.Arg96fs					DHRS4_ENST00000558581.1_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000558263.1_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000397073.2_Frame_Shift_Ins_p.A77fs|DHRS4_ENST00000543741.2_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000421831.1_Frame_Shift_Ins_p.A77fs|DHRS4_ENST00000397074.3_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000397075.3_Frame_Shift_Ins_p.A95fs|DHRS4_ENST00000382761.3_Frame_Shift_Ins_p.A77fs|DHRS4_ENST00000308178.8_Frame_Shift_Ins_p.A77fs|DHRS4_ENST00000559632.1_Frame_Shift_Ins_p.A95fs	p.A95fs	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	487_488	+			95					B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Frame_Shift_Ins	INS	ENST00000313250.5	37	c.284_285insC	CCDS9605.1																																																																																				0.668	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			7	51						7	51	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21817398	21817399	+	RNA	INS	-	-	A	rs371932459|rs144931984|rs149686515		TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr16:21817398_21817399insA	ENST00000546471.1	-	0	1607							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		TAAATGaaaataaaaaaataaa	0.302																																						ENST00000546471.1																			0																																																			730092							g.chr16:21817398_21817399insA			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817405_21817405dupA														0	1607	-								A8K6T4|B3KWX9|O75704	RNA	INS	ENST00000546471.1	37																																																																																						0.302	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		3	4						3	4	---	---	---	---
SUZ12P1	440423	broad.mit.edu	37	17	29062327	29062327	+	RNA	DEL	T	T	-			TCGA-MT-A51W-01A-21D-A25Y-08	TCGA-MT-A51W-10A-01D-A25Y-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644ad1be-542b-4ddc-af21-4f091e53e576	ec0c9bb4-63cf-4fa4-88ad-db1b39a86312	g.chr17:29062327delT	ENST00000582557.1	+	0	946																											TGTTATTAGCTTTTTTTTTTT	0.408																																						ENST00000582557.1																			0																																																			440423							g.chr17:29062327delT																													17.37:g.29062327delT														0	946	+									RNA	DEL	ENST00000582557.1	37																																																																																						0.408	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			2	4						2	4	---	---	---	---
