#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
CUBN	8029	broad.mit.edu	37	10	16882377	16882377	+	Silent	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr10:16882377G>C	ENST00000377833.4	-	62	10049	c.9984C>G	c.(9982-9984)acC>acG	p.T3328T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3328	CUB 25. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTCTTGCGAGGTCAGCTGTA	0.463																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(9982-9984)acC>acG		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						149.0	128.0	135.0					10																	16882377		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16882377G>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9984C>G	10.37:g.16882377G>C							p.T3328T	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			62	10049	-			3328			CUB 25.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.9984C>G	CCDS7113.1																																																																																				0.463	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		14	20	0	0	0	1	0	14	20				
CLASP2	23122	broad.mit.edu	37	3	33592874	33592874	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:33592874A>G	ENST00000468888.2	-	30	3093	c.3047T>C	c.(3046-3048)aTc>aCc	p.I1016T	CLASP2_ENST00000359576.5_Missense_Mutation_p.I1007T|CLASP2_ENST00000307312.7_Missense_Mutation_p.I497T|CLASP2_ENST00000399362.4_Missense_Mutation_p.I1015T|CLASP2_ENST00000461133.3_Missense_Mutation_p.I775T|CLASP2_ENST00000539981.1_Missense_Mutation_p.I785T|CLASP2_ENST00000480013.1_Missense_Mutation_p.I795T			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	796	Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GTATTTAAGGATAGCAACCTT	0.408																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(3043-3045)aTc>aCc		cytoplasmic linker associated protein 2							61.0	59.0	60.0					3																	33592874		1858	4101	5959	SO:0001583	missense	23122							g.chr3:33592874A>G	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3047T>C	3.37:g.33592874A>G	ENSP00000419974:p.Ile1016Thr					CLASP2_ENST00000539981.1_Missense_Mutation_p.I785T|CLASP2_ENST00000468888.2_Missense_Mutation_p.I1016T|CLASP2_ENST00000461133.3_Missense_Mutation_p.I775T|CLASP2_ENST00000359576.5_Missense_Mutation_p.I1007T|CLASP2_ENST00000307312.7_Missense_Mutation_p.I497T|CLASP2_ENST00000480013.1_Missense_Mutation_p.I795T	p.I1015T	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			30	3397	-			1017					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.3044T>C		.	.	.	.	.	.	.	.	.	.	A	16.03	3.007359	0.54361	.	.	ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133	T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.27	5.27	0.74061	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	L	0.28274	0.84	0.80722	D	1	B;P;B	0.50528	0.397;0.936;0.205	B;P;B	0.50934	0.146;0.654;0.045	T	0.61978	-0.6951	10	0.33940	T	0.23	-11.3347	14.0437	0.64693	1.0:0.0:0.0:0.0	.	796;1007;1015	O75122;F5H604;E7ERI8	CLAP2_HUMAN;.;.	T	1016;1015;1007;497;785;795;775	ENSP00000419974:I1016T;ENSP00000382297:I1015T;ENSP00000352581:I1007T;ENSP00000304743:I497T;ENSP00000439039:I785T;ENSP00000417518:I795T;ENSP00000419305:I775T	ENSP00000304743:I497T	I	-	2	0	CLASP2	33567878	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.283000	0.95860	2.106000	0.64143	0.482000	0.46254	ATC		0.408	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		4	30	0	0	0	1	0	4	30				
DHX58	79132	broad.mit.edu	37	17	40262802	40262802	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:40262802G>A	ENST00000251642.3	-	5	722	c.500C>T	c.(499-501)aCa>aTa	p.T167I		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	167	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGGGAGGCTGTGAGACCCAG	0.627																																						ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(499-501)aCa>aTa		DEXH (Asp-Glu-X-His) box polypeptide 58							97.0	94.0	95.0					17																	40262802		2203	4300	6503	SO:0001583	missense	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40262802G>A	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.500C>T	17.37:g.40262802G>A	ENSP00000251642:p.Thr167Ile						p.T167I	NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	722	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	167			Helicase ATP-binding.		Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	c.500C>T	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458767	0.84317	.	.	ENSG00000108771	ENST00000251642;ENST00000423748;ENST00000413196	T;T	0.56611	2.77;0.45	4.93	3.89	0.44902	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.119358	0.56097	D	0.000031	T	0.80924	0.4717	H	0.97440	4.005	0.45139	D	0.998157	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87098	0.2177	10	0.87932	D	0	.	13.1014	0.59222	0.0:0.0:0.8391:0.1609	.	160;167	B7Z455;Q96C10	.;DHX58_HUMAN	I	167;130;167	ENSP00000251642:T167I;ENSP00000416389:T167I	ENSP00000251642:T167I	T	-	2	0	DHX58	37516328	1.000000	0.71417	0.995000	0.50966	0.955000	0.61496	6.582000	0.74049	2.290000	0.77057	0.555000	0.69702	ACA		0.627	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		4	78	0	0	0	1	0	4	78				
DYTN	391475	broad.mit.edu	37	2	207569605	207569605	+	Nonsense_Mutation	SNP	G	G	A	rs372283021		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:207569605G>A	ENST00000452335.2	-	5	561	c.445C>T	c.(445-447)Cga>Tga	p.R149*	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	149						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		AAAACCCTTCGAGTCATGCGT	0.358																																						ENST00000452335.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36						c.(445-447)Cga>Tga		dystrotelin		G	stop/ARG	0,3936		0,0,1968	91.0	94.0	93.0		445	4.0	1.0	2		93	1,8357		0,1,4178	no	stop-gained	DYTN	NM_001093730.1		0,1,6146	AA,AG,GG		0.012,0.0,0.0081		149/579	207569605	1,12293	1968	4179	6147	SO:0001587	stop_gained	391475					plasma membrane	zinc ion binding	g.chr2:207569605G>A	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.445C>T	2.37:g.207569605G>A	ENSP00000396593:p.Arg149*					DYTN_ENST00000477734.1_5'UTR	p.R149*	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	5	561	-			149						Nonsense_Mutation	SNP	ENST00000452335.2	37	c.445C>T	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598738	0.66332	0.0	1.2E-4	ENSG00000232125	ENST00000452335	.	.	.	4.97	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-7.7032	9.1733	0.37096	0.08:0.0:0.7737:0.1464	.	.	.	.	X	149	.	ENSP00000396593:R149X	R	-	1	2	DYTN	207277850	0.675000	0.27558	0.979000	0.43373	0.047000	0.14425	2.406000	0.44557	2.736000	0.93811	0.655000	0.94253	CGA		0.358	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			17	11	0	0	0	1	0	17	11				
SETDB1	9869	broad.mit.edu	37	1	150933333	150933333	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:150933333G>A	ENST00000271640.5	+	16	2985	c.2795G>A	c.(2794-2796)cGg>cAg	p.R932Q	SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Missense_Mutation_p.R932Q	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	932	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGCAGACCCGGGGCCAGAAA	0.532																																						ENST00000271640.5																			0				NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(2794-2796)cGg>cAg		SET domain, bifurcated 1							91.0	97.0	95.0					1																	150933333		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150933333G>A	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.2795G>A	1.37:g.150933333G>A	ENSP00000271640:p.Arg932Gln					SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Missense_Mutation_p.R932Q	p.R932Q	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		16	2985	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		932			SET.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.2795G>A	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518051	0.85495	.	.	ENSG00000143379	ENST00000271640;ENST00000368969;ENST00000498193	D;D;T	0.89196	-2.48;-2.46;1.05	5.54	5.54	0.83059	SET domain (3);	0.101850	0.64402	D	0.000005	D	0.84316	0.5445	L	0.29908	0.895	0.80722	D	1	P;D;D	0.58268	0.95;0.977;0.982	P;P;P	0.51016	0.521;0.525;0.656	D	0.86749	0.1959	10	0.62326	D	0.03	.	14.7855	0.69800	0.0712:0.0:0.9288:0.0	.	932;932;932	E9PRF4;Q15047-3;Q15047	.;.;SETB1_HUMAN	Q	932	ENSP00000271640:R932Q;ENSP00000357965:R932Q;ENSP00000432348:R932Q	ENSP00000271640:R932Q	R	+	2	0	SETDB1	149199957	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.515000	0.67049	2.625000	0.88918	0.456000	0.33151	CGG		0.532	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			41	65	0	0	0	1	0	41	65				
MARC2	54996	broad.mit.edu	37	1	220936325	220936325	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:220936325A>G	ENST00000366913.3	+	4	881	c.683A>G	c.(682-684)gAg>gGg	p.E228G	MARC2_ENST00000359316.2_Missense_Mutation_p.E228G	NM_017898.3	NP_060368.2	Q969Z3	MARC2_HUMAN	mitochondrial amidoxime reducing component 2	228	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										ACCAGGATGGAGAAGAAAATG	0.493																																						ENST00000366913.3																			0											c.(682-684)gAg>gGg		mitochondrial amidoxime reducing component 2							133.0	132.0	133.0					1																	220936325		2203	4300	6503	SO:0001583	missense	54996					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220936325A>G		CCDS1525.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000117791	ENSG00000117791			26064	protein-coding gene	gene with protein product		614127	"""MOCO sulphurase C-terminal domain containing 2"""	MOSC2		11886751	Standard	NM_017898		Approved	FLJ20605	uc001hmq.3	Q969Z3	OTTHUMG00000037354	ENST00000366913.3:c.683A>G	1.37:g.220936325A>G	ENSP00000355880:p.Glu228Gly					MARC2_ENST00000359316.2_Missense_Mutation_p.E228G	p.E228G	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN			4	881	+			228			MOSC.		B2D0R5|D3DTB3|Q0JSK7|Q5VT67|Q5VXC7|Q7L317|Q9H066|Q9NWU0	Missense_Mutation	SNP	ENST00000366913.3	37	c.683A>G	CCDS1525.1	.	.	.	.	.	.	.	.	.	.	A	16.56	3.158015	0.57368	.	.	ENSG00000117791	ENST00000359316;ENST00000366913;ENST00000425560	T;T;T	0.31510	1.49;2.39;2.39	5.55	5.55	0.83447	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);	0.339951	0.27705	N	0.018188	T	0.34221	0.0890	L	0.49126	1.545	0.41225	D	0.986539	P;P	0.38129	0.619;0.567	B;B	0.42245	0.381;0.366	T	0.11690	-1.0577	10	0.45353	T	0.12	-11.3818	13.2153	0.59856	1.0:0.0:0.0:0.0	.	228;228	Q969Z3-2;Q969Z3	.;MOSC2_HUMAN	G	228;228;129	ENSP00000352266:E228G;ENSP00000355880:E228G;ENSP00000416442:E129G	ENSP00000352266:E228G	E	+	2	0	MOSC2	219002948	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	4.241000	0.58707	2.103000	0.63969	0.533000	0.62120	GAG		0.493	MARC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090911.1	NM_017898		29	53	0	0	0	1	0	29	53				
PHF3	23469	broad.mit.edu	37	6	64404543	64404543	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr6:64404543C>G	ENST00000262043.3	+	6	2909	c.2569C>G	c.(2569-2571)Cgt>Ggt	p.R857G	PHF3_ENST00000393387.1_Missense_Mutation_p.R857G			Q92576	PHF3_HUMAN	PHD finger protein 3	857					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGCTCCTCTTCGTAAGATGGG	0.383																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(2569-2571)Cgt>Ggt		PHD finger protein 3							102.0	115.0	111.0					6																	64404543		2202	4300	6502	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64404543C>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.2569C>G	6.37:g.64404543C>G	ENSP00000262043:p.Arg857Gly					PHF3_ENST00000393387.1_Missense_Mutation_p.R857G	p.R857G			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		6	2909	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		857					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.2569C>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.252843	0.59212	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000515594;ENST00000262043;ENST00000494284;ENST00000393387	T;T;T;T;T;T	0.49432	1.93;1.48;0.78;2.05;1.35;2.05	5.48	5.48	0.80851	.	0.284922	0.19064	N	0.123682	T	0.38214	0.1032	M	0.65975	2.015	0.40751	D	0.982919	P	0.39601	0.68	B	0.37091	0.241	T	0.44065	-0.9352	10	0.52906	T	0.07	-4.4252	16.8751	0.86050	0.0:1.0:0.0:0.0	.	857	Q92576	PHF3_HUMAN	G	671;769;126;857;810;857	ENSP00000424694:R671G;ENSP00000425227:R769G;ENSP00000425338:R126G;ENSP00000262043:R857G;ENSP00000424078:R810G;ENSP00000377048:R857G	ENSP00000262043:R857G	R	+	1	0	PHF3	64462502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.225000	0.51246	2.732000	0.93576	0.555000	0.69702	CGT		0.383	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			4	153	0	0	0	1	0	4	153				
VSIG4	11326	broad.mit.edu	37	X	65242163	65242163	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chrX:65242163A>G	ENST00000374737.4	-	8	1250	c.1142T>C	c.(1141-1143)cTg>cCg	p.L381P	VSIG4_ENST00000412866.2_Missense_Mutation_p.L287P|VSIG4_ENST00000455586.2_3'UTR	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	381					complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACTGTGTCCAGCAGGCGGGC	0.507																																						ENST00000374737.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1141-1143)cTg>cCg		V-set and immunoglobulin domain containing 4							81.0	68.0	72.0					X																	65242163		2203	4300	6503	SO:0001583	missense	11326				complement activation, alternative pathway	integral to membrane	protein binding	g.chrX:65242163A>G	AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.1142T>C	X.37:g.65242163A>G	ENSP00000363869:p.Leu381Pro					VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_Missense_Mutation_p.L287P	p.L381P	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN			8	1250	-			381					Q6UXI4	Missense_Mutation	SNP	ENST00000374737.4	37	c.1142T>C	CCDS14383.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.770087	0.31320	.	.	ENSG00000155659	ENST00000374737;ENST00000412866	T;T	0.51817	0.69;1.2	4.48	4.48	0.54585	.	0.250837	0.20871	N	0.084179	T	0.62865	0.2463	M	0.65975	2.015	0.42479	D	0.992855	D;D	0.89917	1.0;0.997	D;P	0.71870	0.975;0.871	T	0.66093	-0.6009	10	0.87932	D	0	-1.862	9.1905	0.37195	1.0:0.0:0.0:0.0	.	287;381	Q9Y279-3;Q9Y279	.;VSIG4_HUMAN	P	381;287	ENSP00000363869:L381P;ENSP00000394143:L287P	ENSP00000363869:L381P	L	-	2	0	VSIG4	65158888	0.440000	0.25618	0.104000	0.21259	0.010000	0.07245	3.470000	0.53100	1.769000	0.52152	0.380000	0.24917	CTG		0.507	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056986.1	NM_007268		14	59	0	0	0	1	0	14	59				
NDUFB5	4711	broad.mit.edu	37	3	179332847	179332847	+	Splice_Site	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:179332847G>A	ENST00000259037.3	+	2	327	c.213G>A	c.(211-213)ttG>ttA	p.L71L	NDUFB5_ENST00000493866.1_Intron|NDUFB5_ENST00000473500.1_Intron|NDUFB5_ENST00000472629.1_Intron|snoU13_ENST00000459278.1_RNA	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	71					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TGAAGTTATTGGTAAGTTTAA	0.318																																						ENST00000259037.3																			0				endometrium(1)|lung(6)|skin(1)	8						c.e2+1		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	NADH(DB00157)						78.0	77.0	77.0					3																	179332847		2203	4300	6503	SO:0001630	splice_region_variant	4711				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:179332847G>A	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"""Mitochondrial respiratory chain complex / Complex I"""	7700	protein-coding gene	gene with protein product	"""complex I SGDH subunit"""	603841	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"""			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.213+1G>A	3.37:g.179332847G>A						NDUFB5_ENST00000472629.1_Intron|NDUFB5_ENST00000493866.1_Intron|NDUFB5_ENST00000473500.1_Intron	p.L71_splice	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		2	327	+	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		71					Q561V6	Splice_Site	SNP	ENST00000259037.3	37	c.213_splice	CCDS3234.1	.	.	.	.	.	.	.	.	.	.	G	3.704	-0.060931	0.07317	.	.	ENSG00000136521	ENST00000482604	.	.	.	4.49	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.3731	12.0099	0.53280	0.0871:0.0:0.9128:0.0	.	.	.	.	X	68	.	.	W	+	2	0	NDUFB5	180815541	1.000000	0.71417	0.969000	0.41365	0.004000	0.04260	4.087000	0.57671	1.256000	0.44068	-0.262000	0.10625	TGG		0.318	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492	Silent	15	39	0	0	0	1	0	15	39				
TUBB8P7	197331	broad.mit.edu	37	16	90161723	90161723	+	RNA	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr16:90161723T>C	ENST00000564451.1	+	0	1076				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TTCTCATTAGTAAGATCCGGG	0.572																																						ENST00000567960.1																			0																																																			0							g.chr16:90161723T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161723T>C						TUBB8P7_ENST00000564451.1_RNA								0	459	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.572	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	14	0	0	0	1	0	4	14				
RASGRP1	10125	broad.mit.edu	37	15	38811527	38811527	+	Silent	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:38811527C>T	ENST00000310803.5	-	4	549	c.372G>A	c.(370-372)aaG>aaA	p.K124K	RASGRP1_ENST00000559830.1_Silent_p.K124K|RASGRP1_ENST00000450598.2_Silent_p.K124K|RASGRP1_ENST00000561180.1_Silent_p.K175K|RASGRP1_ENST00000539159.1_Silent_p.K76K|RASGRP1_ENST00000558164.1_Silent_p.K124K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	124	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rho GTPase activity (GO:0032862)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response to antigenic stimulus (GO:0002437)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)|secretory granule localization (GO:0032252)|signal transduction (GO:0007165)|vesicle transport along microtubule (GO:0047496)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AATAACAGATCTTCAGGCAAA	0.413																																						ENST00000310803.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(370-372)aaG>aaA		RAS guanyl releasing protein 1 (calcium and DAG-regulated)							112.0	109.0	110.0					15																	38811527		1832	4082	5914	SO:0001819	synonymous_variant	10125				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding	g.chr15:38811527C>T	AF106071	CCDS45221.1, CCDS45222.1	15q15	2013-01-10				ENSG00000172575		"""EF-hand domain containing"""	9878	protein-coding gene	gene with protein product		603962				10087292, 9789079	Standard	NM_005739		Approved	CalDAG-GEFII, RASGRP	uc001zke.4	O95267		ENST00000310803.5:c.372G>A	15.37:g.38811527C>T						RASGRP1_ENST00000450598.2_Silent_p.K124K|RASGRP1_ENST00000539159.1_Silent_p.K76K|RASGRP1_ENST00000558164.1_Silent_p.K124K|RASGRP1_ENST00000559830.1_Silent_p.K124K|RASGRP1_ENST00000561180.1_Silent_p.K175K	p.K124K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)	4	549	-		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)	124			N-terminal Ras-GEF.		Q56CZ0|Q58G75|Q59HB1|Q5I3A8|Q6GV31|Q6NX39|Q7LDG6|Q9UI94|Q9UNN9	Silent	SNP	ENST00000310803.5	37	c.372G>A	CCDS45222.1																																																																																				0.413	RASGRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418223.1	NM_005739		27	32	0	0	0	1	0	27	32				
TIAM1	7074	broad.mit.edu	37	21	32624411	32624411	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr21:32624411G>C	ENST00000286827.3	-	6	1529	c.1058C>G	c.(1057-1059)aCc>aGc	p.T353S	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.T353S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	353					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCTGGAGTTGGTGGCATTAGA	0.622																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(1057-1059)aCc>aGc		T-cell lymphoma invasion and metastasis 1							153.0	161.0	158.0					21																	32624411		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32624411G>C		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1058C>G	21.37:g.32624411G>C	ENSP00000286827:p.Thr353Ser					TIAM1_ENST00000541036.1_Missense_Mutation_p.T353S|TIAM1_ENST00000469412.1_5'UTR	p.T353S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			6	1529	-			353					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.1058C>G	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.147796	0.37923	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.38887	1.12;1.11	4.89	4.89	0.63831	.	0.049256	0.85682	D	0.000000	T	0.37376	0.1001	L	0.44542	1.39	0.58432	D	0.99999	P;P;P	0.46859	0.885;0.817;0.817	B;B;B	0.42593	0.392;0.22;0.22	T	0.13522	-1.0506	10	0.10377	T	0.69	.	18.2573	0.90023	0.0:0.0:1.0:0.0	.	353;353;353	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	S	353;194;353	ENSP00000286827:T353S;ENSP00000441570:T353S	ENSP00000286827:T353S	T	-	2	0	TIAM1	31546282	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.158000	0.77470	2.519000	0.84933	0.655000	0.94253	ACC		0.622	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		96	221	0	0	0	1	0	96	221				
ZP3	7784	broad.mit.edu	37	7	76054351	76054351	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:76054351C>A	ENST00000394857.3	+	1	128	c.70C>A	c.(70-72)Ccc>Acc	p.P24T	ZP3_ENST00000336517.4_Intron	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	24					binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CTACCCCCAACCCCTCTGGCT	0.602																																						ENST00000394857.3																			0				endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						c.(70-72)Ccc>Acc		zona pellucida glycoprotein 3 (sperm receptor)							12.0	12.0	12.0					7																	76054351		692	1589	2281	SO:0001583	missense	7784				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	g.chr7:76054351C>A	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.70C>A	7.37:g.76054351C>A	ENSP00000378326:p.Pro24Thr					ZP3_ENST00000336517.4_Intron	p.P24T	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN			1	128	+			24					Q06633|Q29RW0	Missense_Mutation	SNP	ENST00000394857.3	37	c.70C>A	CCDS47618.1	.	.	.	.	.	.	.	.	.	.	C	7.162	0.585892	0.13749	.	.	ENSG00000188372	ENST00000394857;ENST00000544121	T	0.11930	2.73	5.1	-0.237	0.13061	.	.	.	.	.	T	0.06690	0.0171	N	0.20986	0.625	0.20196	N	0.999926	B	0.17038	0.02	B	0.12156	0.007	T	0.43245	-0.9403	9	0.16896	T	0.51	0.4673	2.0179	0.03502	0.2796:0.4333:0.1286:0.1585	.	24	P21754	ZP3_HUMAN	T	24	ENSP00000378326:P24T	ENSP00000378326:P24T	P	+	1	0	ZP3	75892287	0.000000	0.05858	0.006000	0.13384	0.136000	0.21042	-0.111000	0.10807	-0.384000	0.07845	0.467000	0.42956	CCC		0.602	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1			4	14	1	0	0.00024832	1	0.000256417	4	14				
FSCN3	29999	broad.mit.edu	37	7	127235409	127235409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:127235409C>T	ENST00000265825.5	+	2	412	c.193C>T	c.(193-195)Cga>Tga	p.R65*	GCC1_ENST00000497650.1_5'Flank|FSCN3_ENST00000420086.2_5'UTR|FSCN3_ENST00000478328.1_3'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	65						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCGTGGTGCGACTAAAGAG	0.562																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(193-195)Cga>Tga		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							118.0	103.0	108.0					7																	127235409		2203	4300	6503	SO:0001587	stop_gained	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127235409C>T		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.193C>T	7.37:g.127235409C>T	ENSP00000265825:p.Arg65*					FSCN3_ENST00000420086.2_5'UTR|FSCN3_ENST00000478328.1_3'UTR	p.R65*	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			2	412	+			65					A4D0Z2|A6NLL7|B2RA62|B4DU68	Nonsense_Mutation	SNP	ENST00000265825.5	37	c.193C>T	CCDS34746.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705814	0.89018	.	.	ENSG00000106328	ENST00000265825	.	.	.	5.59	4.69	0.59074	.	0.000000	0.52532	D	0.000070	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-10.8018	11.9701	0.53060	0.1736:0.8264:0.0:0.0	.	.	.	.	X	65	.	ENSP00000265825:R65X	R	+	1	2	FSCN3	127022645	0.932000	0.31603	0.863000	0.33907	0.355000	0.29361	1.800000	0.38833	1.457000	0.47850	0.655000	0.94253	CGA		0.562	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		27	75	0	0	0	1	0	27	75				
DST	667	broad.mit.edu	37	6	56357765	56357765	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr6:56357765C>A	ENST00000361203.3	-	79	19564	c.19557G>T	c.(19555-19557)ttG>ttT	p.L6519F	DST_ENST00000370754.5_Missense_Mutation_p.L6808F|DST_ENST00000370769.4_Missense_Mutation_p.L6630F|DST_ENST00000312431.6_3'UTR|DST_ENST00000340834.4_5'Flank|DST_ENST00000244364.6_Missense_Mutation_p.L4216F|DST_ENST00000421834.2_Missense_Mutation_p.L4542F|DST_ENST00000446842.2_Missense_Mutation_p.L6304F|DST_ENST00000370788.2_Missense_Mutation_p.L4433F			Q03001	DYST_HUMAN	dystonin	6519					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)	p.L4216F(1)|p.L6630F(1)		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)			AGACTGTGTCCAAGATGAGAC	0.398																																						ENST00000370754.5																			2	Substitution - Missense(2)	p.L4216F(1)|p.L6630F(1)	lung(2)	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.(20422-20424)ttG>ttT		dystonin							90.0	88.0	88.0					6																	56357765		1900	4141	6041	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.chr6:56357765C>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.19557G>T	6.37:g.56357765C>A	ENSP00000354508:p.Leu6519Phe					DST_ENST00000370788.2_Missense_Mutation_p.L4433F|DST_ENST00000446842.2_Missense_Mutation_p.L6304F|DST_ENST00000361203.3_Missense_Mutation_p.L6519F|DST_ENST00000244364.6_Missense_Mutation_p.L4216F|DST_ENST00000370769.4_Missense_Mutation_p.L6630F|DST_ENST00000421834.2_Missense_Mutation_p.L4542F|DST_ENST00000312431.6_3'UTR	p.L6808F			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		84	20423	-	Lung NSC(77;0.103)		6628					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	ENST00000361203.3	37	c.20424G>T		.	.	.	.	.	.	.	.	.	.	C	12.95	2.090762	0.36855	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23;0.23	5.3	2.17	0.27698	.	0.000000	0.40554	N	0.001073	T	0.61035	0.2315	M	0.78049	2.395	0.33857	D	0.633378	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.984	T	0.62695	-0.6800	9	0.56958	D	0.05	.	6.7272	0.23363	0.0:0.6121:0.1435:0.2444	.	4542;6630;6808;6628;4216	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	F	4216;6808;6630;4542;6304;4433;6519	ENSP00000244364:L4216F;ENSP00000359790:L6808F;ENSP00000359805:L6630F;ENSP00000400883:L4542F;ENSP00000393645:L6304F;ENSP00000359824:L4433F;ENSP00000354508:L6519F	ENSP00000244364:L4216F	L	-	3	2	DST	56465724	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	1.499000	0.35671	0.249000	0.21456	0.484000	0.47621	TTG		0.398	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		5	12	1	0	5.9392e-07	1	6.3396e-07	5	12				
UQCRC1	7384	broad.mit.edu	37	3	48637920	48637920	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:48637920A>T	ENST00000203407.5	-	10	1624	c.1208T>A	c.(1207-1209)cTa>cAa	p.L403Q		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	403					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTCACCATCTAGATGAGATAC	0.567																																					NSCLC(81;1112 1427 27031 32409 45529)	ENST00000203407.5																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16						c.(1207-1209)cTa>cAa		ubiquinol-cytochrome c reductase core protein I	Atovaquone(DB01117)						89.0	80.0	83.0					3																	48637920		2203	4300	6503	SO:0001583	missense	7384				aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	g.chr3:48637920A>T	BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.1208T>A	3.37:g.48637920A>T	ENSP00000203407:p.Leu403Gln						p.L403Q	NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	10	1624	-			403					B2R7R8|Q96DD2	Missense_Mutation	SNP	ENST00000203407.5	37	c.1208T>A	CCDS2774.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.568630	0.86439	.	.	ENSG00000010256	ENST00000203407	T	0.35789	1.29	5.91	5.91	0.95273	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.69251	0.3090	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	T	0.76699	-0.2863	10	0.56958	D	0.05	-18.3911	16.3426	0.83092	1.0:0.0:0.0:0.0	.	288;403	B4DUL5;P31930	.;QCR1_HUMAN	Q	403	ENSP00000203407:L403Q	ENSP00000203407:L403Q	L	-	2	0	UQCRC1	48612924	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	9.101000	0.94219	2.263000	0.75096	0.379000	0.24179	CTA		0.567	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257517.1	NM_003365		20	1	0	0	0	1	0	20	1				
AMN	81693	broad.mit.edu	37	14	103400064	103400064	+	IGR	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr14:103400064C>T	ENST00000299155.5	+	0	1907				CDC42BPB_ENST00000361246.2_Silent_p.P1707P|RP11-365N19.2_ENST00000560931.1_RNA	NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein						cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCACAGGCCGGCTGCTCCA	0.667																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.(5119-5121)ccG>ccA		CDC42 binding protein kinase beta (DMPK-like)							13.0	16.0	15.0					14																	103400064		2189	4278	6467	SO:0001628	intergenic_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103400064C>T	AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"""amnionless homolog (mouse)"""			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7			14.37:g.103400064C>T						RP11-365N19.2_ENST00000560931.1_RNA	p.P1707P	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	37	5409	-		Melanoma(154;0.155)	1707					Q6UX83	Silent	SNP	ENST00000299155.5	37	c.5121G>A	CCDS9977.1																																																																																				0.667	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1			3	4	0	0	0	1	0	3	4				
OMA1	115209	broad.mit.edu	37	1	59004951	59004951	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:59004951C>T	ENST00000371226.3	-	2	129	c.16G>A	c.(16-18)Gga>Aga	p.G6R	OMA1_ENST00000467063.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.G6R|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	6					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GACTGCAATCCACAGATGAAG	0.363																																						ENST00000371226.3																			0				NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18						c.(16-18)Gga>Aga		OMA1 zinc metallopeptidase							41.0	42.0	42.0					1																	59004951		2201	4300	6501	SO:0001583	missense	115209				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	g.chr1:59004951C>T	AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.16G>A	1.37:g.59004951C>T	ENSP00000360270:p.Gly6Arg					OMA1_ENST00000467063.1_Intron|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.G6R	p.G6R	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN			2	129	-	all_cancers(7;6.54e-05)		6					D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Missense_Mutation	SNP	ENST00000371226.3	37	c.16G>A	CCDS608.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208121	0.79240	.	.	ENSG00000162600	ENST00000358603;ENST00000371226;ENST00000456980;ENST00000419242;ENST00000426139;ENST00000453710	T;T;T;T;T;T	0.38887	2.22;2.23;1.58;1.53;1.47;1.11	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000009	T	0.61362	0.2341	L	0.59436	1.845	0.42771	D	0.993837	D;D	0.89917	1.0;1.0	D;D	0.79108	0.988;0.992	T	0.57911	-0.7729	9	.	.	.	-20.4559	17.5023	0.87735	0.0:1.0:0.0:0.0	.	6;6	Q96E52;Q96E52-2	OMA1_HUMAN;.	R	6	ENSP00000351417:G6R;ENSP00000360270:G6R;ENSP00000395053:G6R;ENSP00000409589:G6R;ENSP00000416495:G6R;ENSP00000392978:G6R	.	G	-	1	0	OMA1	58777539	0.874000	0.30092	0.998000	0.56505	0.737000	0.42083	1.474000	0.35398	2.793000	0.96121	0.655000	0.94253	GGA		0.363	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	NM_145243		12	25	0	0	0	1	0	12	25				
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr4:4228226G>A	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R122R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716																																						ENST00000296358.4																			2	Substitution - coding silent(2)	p.R122R(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(364-366)cgC>cgT		otopetrin 1							5.0	6.0	6.0					4																	4228226		1619	3562	5181	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4228226G>A	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.366C>T	4.37:g.4228226G>A							p.R122R	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	390	-			122					A1L476	Silent	SNP	ENST00000296358.4	37	c.366C>T	CCDS3372.1																																																																																				0.716	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		3	22	0	0	0	1	0	3	22				
SPG7	6687	broad.mit.edu	37	16	89620289	89620289	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr16:89620289C>T	ENST00000268704.2	+	15	2039	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	675					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGGCCCATCTCCTTCCCTGAG	0.662																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(2023-2025)tCc>tTc		spastic paraplegia 7 (pure and complicated autosomal recessive)							91.0	75.0	80.0					16																	89620289		2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89620289C>T	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.2024C>T	16.37:g.89620289C>T	ENSP00000268704:p.Ser675Phe						p.S675F	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	15	2039	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	675					O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.2024C>T	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.396329	0.83011	.	.	ENSG00000197912	ENST00000268704	D	0.85955	-2.05	5.21	5.21	0.72293	Peptidase M41 (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.92374	0.7580	M	0.77406	2.37	0.80722	D	1	D	0.69078	0.997	D	0.79784	0.993	D	0.93280	0.6659	10	0.87932	D	0	.	17.776	0.88508	0.0:1.0:0.0:0.0	.	675	Q9UQ90	SPG7_HUMAN	F	675	ENSP00000268704:S675F	ENSP00000268704:S675F	S	+	2	0	SPG7	88147790	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	7.468000	0.80943	2.423000	0.82170	0.563000	0.77884	TCC		0.662	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		42	48	0	0	0	1	0	42	48				
CTBP1	1487	broad.mit.edu	37	4	1232004	1232004	+	Silent	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr4:1232004G>A	ENST00000290921.6	-	2	343	c.162C>T	c.(160-162)tgC>tgT	p.C54C	CTBP1_ENST00000510568.1_Silent_p.C43C|CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000382952.3_Silent_p.C43C	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	54	Interaction with GLIS2 1. {ECO:0000250}.				Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		ACTGCGCGTCGCAGAAGGCCA	0.672																																						ENST00000510568.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8						c.(127-129)tgC>tgT		C-terminal binding protein 1							69.0	66.0	67.0					4																	1232004		2203	4299	6502	SO:0001819	synonymous_variant	1487				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding	g.chr4:1232004G>A	U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.162C>T	4.37:g.1232004G>A						CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000290921.6_Silent_p.C54C|CTBP1_ENST00000382952.3_Silent_p.C43C	p.C43C			Q13363	CTBP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)	2	720	-			54			Interaction with GLIS2 1 (By similarity).		Q4W5N3|Q7Z2Q5	Silent	SNP	ENST00000290921.6	37	c.129C>T	CCDS3348.1																																																																																				0.672	CTBP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000202938.1	NM_001328		4	125	0	0	0	1	0	4	125				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			5	11	0	0	0	1	0	5	11				
TTN	7273	broad.mit.edu	37	2	179594664	179594664	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:179594664G>C	ENST00000591111.1	-	61	17589	c.17365C>G	c.(17365-17367)Caa>Gaa	p.Q5789E	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.Q6106E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q4862E			Q8WZ42	TITIN_HUMAN	titin	12591	Ig-like 39.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAATGAATTGAGGAGGTTCT	0.438																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(18316-18318)Caa>Gaa		titin							33.0	32.0	32.0					2																	179594664		1843	4094	5937	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594664G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17365C>G	2.37:g.179594664G>C	ENSP00000465570:p.Gln5789Glu					TTN_ENST00000591111.1_Missense_Mutation_p.Q5789E|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q4862E	p.Q6106E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		63	18540	-			5789			Ig-like 42.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18316C>G		.	.	.	.	.	.	.	.	.	.	G	11.93	1.786500	0.31593	.	.	ENSG00000155657	ENST00000342992	T	0.65916	-0.18	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46658	0.1404	N	0.16130	0.375	0.80722	D	1	B	0.29432	0.244	B	0.28305	0.088	T	0.50004	-0.8878	9	0.87932	D	0	.	13.2478	0.60033	0.0:0.0:0.739:0.261	.	5789	Q8WZ42	TITIN_HUMAN	E	4862	ENSP00000343764:Q4862E	ENSP00000343764:Q4862E	Q	-	1	0	TTN	179302909	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.685000	0.74543	2.805000	0.96524	0.655000	0.94253	CAA		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	18	0	0	0	1	0	9	18				
HIST1H3F	8968	broad.mit.edu	37	6	26250542	26250542	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr6:26250542C>G	ENST00000446824.2	-	1	293	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	98					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.E98K(1)		lung(6)|urinary_tract(1)	7						AGGTAAGCCTCGCAGGCCTCC	0.602											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000446824.2																			1	Substitution - Missense(1)	p.E98K(1)	lung(1)	lung(6)|urinary_tract(1)	7						c.(292-294)Gag>Cag		histone cluster 1, H3f							102.0	101.0	101.0					6																	26250542		2203	4300	6503	SO:0001583	missense	8968				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26250542C>G	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"""Histones / Replication-dependent"""	4773	protein-coding gene	gene with protein product		602816	"""H3 histone family, member I"", ""histone 1, H3f"""	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.292G>C	6.37:g.26250542C>G	ENSP00000444823:p.Glu98Gln		OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785		p.E98Q	NM_021018.2	NP_066298.1	P68431	H31_HUMAN			1	293	-			98					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000446824.2	37	c.292G>C	CCDS4600.1	.	.	.	.	.	.	.	.	.	.	.	18.58	3.654187	0.67472	.	.	ENSG00000256316	ENST00000446824	T	0.78481	-1.18	4.82	4.82	0.62117	.	.	.	.	.	D	0.84884	0.5571	.	.	.	0.43740	D	0.996239	.	.	.	.	.	.	D	0.86732	0.1949	6	0.87932	D	0	.	17.7536	0.88442	0.0:1.0:0.0:0.0	.	.	.	.	Q	98	ENSP00000444823:E98Q	ENSP00000444823:E98Q	E	-	1	0	HIST1H3F	26358521	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	7.722000	0.84778	2.602000	0.87976	0.561000	0.74099	GAG		0.602	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1	NM_021018		37	18	0	0	0	1	0	37	18				
THSD7A	221981	broad.mit.edu	37	7	11871427	11871427	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:11871427G>A	ENST00000423059.4	-	1	397	c.146C>T	c.(145-147)gCg>gTg	p.A49V		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	49					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A49V(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTCGCCCTGCGCCGCAGCCCT	0.706										HNSCC(18;0.044)																												ENST00000423059.3																			1	Substitution - Missense(1)	p.A49V(1)	upper_aerodigestive_tract(1)	NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(145-147)gCg>gTg		thrombospondin, type I, domain containing 7A							11.0	13.0	13.0					7																	11871427		1777	3911	5688	SO:0001583	missense	221981					integral to membrane		g.chr7:11871427G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.146C>T	7.37:g.11871427G>A	ENSP00000406482:p.Ala49Val	HNSCC(18;0.044)					p.A49V	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	1	397	-			49						Missense_Mutation	SNP	ENST00000423059.4	37	c.146C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223299	0.39300	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59772	0.24	4.79	3.89	0.44902	.	0.382675	0.14614	U	0.308806	T	0.37839	0.1018	L	0.27053	0.805	0.26837	N	0.968453	P	0.40083	0.702	B	0.29663	0.105	T	0.11060	-1.0603	10	0.09843	T	0.71	.	15.0094	0.71539	0.0:0.1431:0.8569:0.0	.	49	Q9UPZ6	THS7A_HUMAN	V	49	ENSP00000406482:A49V	ENSP00000262042:A49V	A	-	2	0	THSD7A	11837952	1.000000	0.71417	0.860000	0.33809	0.038000	0.13279	6.322000	0.72886	1.197000	0.43143	0.460000	0.39030	GCG		0.706	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		10	9	0	0	0	1	0	10	9				
WNT9B	7484	broad.mit.edu	37	17	44952563	44952563	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:44952563C>G	ENST00000290015.2	+	3	484	c.431C>G	c.(430-432)aCc>aGc	p.T144S	WNT9B_ENST00000393461.2_Missense_Mutation_p.T144S	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	144					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GAGCGCTGCACCTGTGATGAC	0.647																																						ENST00000393461.2																			0				large_intestine(2)|lung(8)	10						c.(430-432)aCc>aGc		wingless-type MMTV integration site family, member 9B							66.0	73.0	71.0					17																	44952563		2203	4299	6502	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44952563C>G	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.431C>G	17.37:g.44952563C>G	ENSP00000290015:p.Thr144Ser					WNT9B_ENST00000290015.2_Missense_Mutation_p.T144S	p.T144S			O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		3	484	+			144					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.431C>G	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026619	0.54683	.	.	ENSG00000158955	ENST00000376843;ENST00000393461;ENST00000290015	T;T	0.75154	-0.91;-0.91	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	N	0.25957	0.775	0.54753	D	0.999987	D;D	0.76494	0.999;0.998	D;D	0.69654	0.965;0.926	T	0.70085	-0.4969	10	0.12103	T	0.63	.	17.9971	0.89187	0.0:1.0:0.0:0.0	.	144;144	E7EPC3;O14905	.;WNT9B_HUMAN	S	138;144;144	ENSP00000377105:T144S;ENSP00000290015:T144S	ENSP00000290015:T144S	T	+	2	0	WNT9B	42307562	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	5.799000	0.69101	2.550000	0.86006	0.462000	0.41574	ACC		0.647	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		118	9	0	0	0	1	0	118	9				
ADAMTSL1	92949	broad.mit.edu	37	9	18775890	18775890	+	Silent	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr9:18775890T>C	ENST00000380548.4	+	18	2886	c.2547T>C	c.(2545-2547)tgT>tgC	p.C849C		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	849	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGGCAACCTGTGCAAGTAAGT	0.557																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(2545-2547)tgT>tgC		ADAMTS-like 1							27.0	30.0	29.0					9																	18775890		1957	4153	6110	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18775890T>C	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2547T>C	9.37:g.18775890T>C							p.C849C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	18	2886	+			849			TSP type-1 7.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.2547T>C	CCDS47954.1																																																																																				0.557	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			11	12	0	0	0	1	0	11	12				
ZNF19	7567	broad.mit.edu	37	16	71509657	71509657	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr16:71509657T>C	ENST00000288177.5	-	6	1048	c.793A>G	c.(793-795)Aga>Gga	p.R265G	ZNF19_ENST00000564230.1_Missense_Mutation_p.R265G|ZNF19_ENST00000565637.1_Missense_Mutation_p.R223G|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000565100.2_Missense_Mutation_p.R195G	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	265					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)			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GTGTGGATTCTCTGATGTATA	0.453																																						ENST00000288177.5																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22						c.(793-795)Aga>Gga		zinc finger protein 19							110.0	114.0	113.0					16																	71509657		2198	4300	6498	SO:0001583	missense	7567					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:71509657T>C	X52343	CCDS10901.1	16q22	2013-01-08	2006-05-10		ENSG00000157429	ENSG00000157429		"""Zinc fingers, C2H2-type"", ""-"""	12981	protein-coding gene	gene with protein product		194525	"""zinc finger protein 19 (KOX 12)"""			1505991, 1946370	Standard	NM_006961		Approved	KOX12, MGC51021	uc002fam.1	P17023	OTTHUMG00000137593	ENST00000288177.5:c.793A>G	16.37:g.71509657T>C	ENSP00000288177:p.Arg265Gly					ZNF19_ENST00000565100.2_Missense_Mutation_p.R195G|AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000565637.1_Missense_Mutation_p.R223G|ZNF19_ENST00000567225.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.R265G	p.R265G	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)	6	1048	-		Ovarian(137;0.00965)	265					A8K895|Q86Y66|Q8NDE2|Q96M79|Q96NE5	Missense_Mutation	SNP	ENST00000288177.5	37	c.793A>G	CCDS10901.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.108676	0.56291	.	.	ENSG00000157429	ENST00000288177	T	0.24723	1.84	3.49	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36034	N	0.002821	T	0.42337	0.1198	M	0.63169	1.94	0.31385	N	0.678515	D	0.89917	1.0	D	0.76575	0.988	T	0.46952	-0.9154	10	0.87932	D	0	.	7.7056	0.28648	0.0:0.0:0.4327:0.5673	.	265	P17023	ZNF19_HUMAN	G	265	ENSP00000288177:R265G	ENSP00000288177:R265G	R	-	1	2	ZNF19	70067158	0.000000	0.05858	0.999000	0.59377	0.663000	0.39108	0.046000	0.14035	0.680000	0.31366	0.533000	0.62120	AGA		0.453	ZNF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268993.2	NM_006961		31	43	0	0	0	1	0	31	43				
MATN4	8785	broad.mit.edu	37	20	43933030	43933030	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr20:43933030C>T	ENST00000372754.1	-	2	489	c.481G>A	c.(481-483)Gcg>Acg	p.A161T	MATN4_ENST00000537548.1_Missense_Mutation_p.A161T|MATN4_ENST00000372756.1_Missense_Mutation_p.A161T|MATN4_ENST00000360607.6_Missense_Mutation_p.A161T|MATN4_ENST00000372751.4_Intron|RBPJL_ENST00000343694.3_5'Flank|RBPJL_ENST00000372741.3_5'Flank|RBPJL_ENST00000372743.1_5'Flank|MATN4_ENST00000342716.4_Missense_Mutation_p.A161T|MATN4_ENST00000353917.5_Missense_Mutation_p.A161T			O95460	MATN4_HUMAN	matrilin 4	161	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CGGGCGCGCGCCTGTGCCGCC	0.741																																						ENST00000537548.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(481-483)Gcg>Acg		matrilin 4							7.0	9.0	8.0					20																	43933030		2117	4093	6210	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43933030C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.481G>A	20.37:g.43933030C>T	ENSP00000361840:p.Ala161Thr					MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.A161T|MATN4_ENST00000360607.5_Missense_Mutation_p.A161T|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000353917.5_Missense_Mutation_p.A161T|MATN4_ENST00000372756.1_Missense_Mutation_p.A161T|MATN4_ENST00000372754.1_Missense_Mutation_p.A161T	p.A161T			O95460	MATN4_HUMAN			4	725	-		Myeloproliferative disorder(115;0.0122)	161			VWFA 1.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.481G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.640329	0.96693	.	.	ENSG00000124159	ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132	T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	4.77	4.77	0.60923	.	0.000000	0.43919	D	0.000519	D	0.91707	0.7378	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93432	0.6786	10	0.72032	D	0.01	.	17.0104	0.86405	0.0:1.0:0.0:0.0	.	161;161;161	A6NNA4;O95460-4;O95460-2	.;.;.	T	161	ENSP00000361840:A161T;ENSP00000361842:A161T;ENSP00000243983:A161T;ENSP00000353819:A161T;ENSP00000343164:A161T;ENSP00000440328:A161T	ENSP00000255132:A161T	A	-	1	0	MATN4	43366444	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.582000	0.82546	2.501000	0.84356	0.456000	0.33151	GCG		0.741	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1			21	203	0	0	0	1	0	21	203				
ZNF462	58499	broad.mit.edu	37	9	109765634	109765634	+	Silent	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr9:109765634G>A	ENST00000277225.5	+	11	7405	c.7116G>A	c.(7114-7116)aaG>aaA	p.K2372K	ZNF462_ENST00000441147.2_Silent_p.K1278K|ZNF462_ENST00000542028.1_Silent_p.K329K|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000457913.1_Silent_p.K2432K			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2372					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AACAGATGAAGGAGAAAATGG	0.473																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(7114-7116)aaG>aaA		zinc finger protein 462							148.0	130.0	136.0					9																	109765634		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109765634G>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.7116G>A	9.37:g.109765634G>A						ZNF462_ENST00000441147.2_Silent_p.K1278K|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000457913.1_Silent_p.K2432K|ZNF462_ENST00000542028.1_Silent_p.K329K	p.K2372K			Q96JM2	ZN462_HUMAN			11	7405	+			2372					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.7116G>A	CCDS35096.1																																																																																				0.473	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		5	101	0	0	0	1	0	5	101				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			0							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	57	0	0	0	1	0	4	57				
ZNF536	9745	broad.mit.edu	37	19	30935256	30935256	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:30935256G>C	ENST00000355537.3	+	2	934	c.787G>C	c.(787-789)Gtg>Ctg	p.V263L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	263					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCTGCCAGCGTGCAGGAGGA	0.711																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(787-789)Gtg>Ctg		zinc finger protein 536							7.0	9.0	8.0					19																	30935256		2068	4091	6159	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935256G>C		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.787G>C	19.37:g.30935256G>C	ENSP00000347730:p.Val263Leu						p.V263L	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	934	+	Esophageal squamous(110;0.0834)		263					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.787G>C	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.733565	0.00687	.	.	ENSG00000198597	ENST00000355537	T	0.07688	3.17	5.7	1.98	0.26296	.	0.623042	0.16327	N	0.219280	T	0.03520	0.0101	N	0.11560	0.145	0.09310	N	0.999996	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.46596	-0.9180	10	0.09590	T	0.72	-11.395	6.1282	0.20192	0.0704:0.1188:0.6343:0.1764	.	263;263	A7E228;O15090	.;ZN536_HUMAN	L	263	ENSP00000347730:V263L	ENSP00000347730:V263L	V	+	1	0	ZNF536	35627096	0.114000	0.22134	0.823000	0.32752	0.452000	0.32318	0.704000	0.25661	0.599000	0.29845	0.491000	0.48974	GTG		0.711	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	124	0	0	0	1	0	6	124				
C2orf71	388939	broad.mit.edu	37	2	29293880	29293880	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:29293880G>A	ENST00000331664.5	-	1	3247	c.3248C>T	c.(3247-3249)cCt>cTt	p.P1083L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1083	Pro-rich.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AATCGAGAAAGGGGGGCTTGC	0.602																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(3247-3249)cCt>cTt		chromosome 2 open reading frame 71							57.0	65.0	63.0					2																	29293880		1891	4089	5980	SO:0001583	missense	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29293880G>A		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3248C>T	2.37:g.29293880G>A	ENSP00000332809:p.Pro1083Leu						p.P1083L	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	3247	-			1083			Pro-rich.			Missense_Mutation	SNP	ENST00000331664.5	37	c.3248C>T	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	11.11	1.541900	0.27563	.	.	ENSG00000179270	ENST00000331664	T	0.20069	2.1	5.52	4.64	0.57946	.	0.309893	0.30639	N	0.009197	T	0.15912	0.0383	L	0.43152	1.355	0.09310	N	1	B	0.29508	0.246	B	0.25759	0.063	T	0.18935	-1.0321	10	0.16896	T	0.51	-2.5932	10.0089	0.41975	0.0724:0.1375:0.7901:0.0	.	1083	A6NGG8	CB071_HUMAN	L	1083	ENSP00000332809:P1083L	ENSP00000332809:P1083L	P	-	2	0	C2orf71	29147384	0.947000	0.32204	0.019000	0.16419	0.025000	0.11179	2.635000	0.46537	1.328000	0.45358	0.655000	0.94253	CCT		0.602	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		44	96	0	0	0	1	0	44	96				
BCRP7	100133163	broad.mit.edu	37	22	18846006	18846006	+	3'UTR	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr22:18846006A>G	ENST00000412938.1	+	0	3364																											GCGCAGGCCGACACTCACTGA	0.617																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846006A>G																												ENST00000412938.1:c.*3361A>G	22.37:g.18846006A>G														0	3364	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	96	0	0	0	1	0	4	96				
LILRP2	79166	broad.mit.edu	37	19	55221848	55221848	+	RNA	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:55221848A>G	ENST00000413439.1	+	0	1415									leukocyte immunoglobulin-like receptor pseudogene 2																		TCAGCTCAGAACGAGGTGGGG	0.637																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221848A>G	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221848A>G														0	1415	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.637	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		3	51	0	0	0	1	0	3	51				
TUBB8P7	197331	broad.mit.edu	37	16	90161714	90161714	+	RNA	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr16:90161714T>C	ENST00000564451.1	+	0	1067				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.L150L(1)									TGGGTACCCTTCTCATTAGTA	0.562																																						ENST00000567960.1																			1	Substitution - coding silent(1)	p.L150L(1)	endometrium(1)																																																0							g.chr16:90161714T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161714T>C						TUBB8P7_ENST00000564451.1_RNA								0	450	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.562	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	19	0	0	0	1	0	4	19				
CHRNA1	1134	broad.mit.edu	37	2	175624069	175624069	+	Missense_Mutation	SNP	C	C	A	rs147488907		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:175624069C>A	ENST00000261007.5	-	3	290	c.224G>T	c.(223-225)cGt>cTt	p.R75L	CHRNA1_ENST00000409323.1_Missense_Mutation_p.R75L|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R75L|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R75L|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Missense_Mutation_p.R75L	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	75					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	CTGTTTCAGACGCACATTGGT	0.443																																						ENST00000348749.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(223-225)cGt>cTt		cholinergic receptor, nicotinic, alpha 1 (muscle)							106.0	101.0	103.0					2																	175624069		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175624069C>A	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.224G>T	2.37:g.175624069C>A	ENSP00000261007:p.Arg75Leu					CHRNA1_ENST00000409219.1_Missense_Mutation_p.R75L|CHRNA1_ENST00000261007.5_Missense_Mutation_p.R75L|CHRNA1_ENST00000409323.1_Missense_Mutation_p.R75L|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R75L|AC018890.6_ENST00000442996.1_RNA	p.R75L	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			3	301	-			75					B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.224G>T	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374499	0.82573	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel ligand-binding (3);	0.097667	0.64402	D	0.000001	D	0.86969	0.6061	L	0.59436	1.845	0.80722	D	1	D;D;D	0.65815	0.989;0.991;0.995	P;D;D	0.71414	0.854;0.934;0.973	D	0.86844	0.2019	10	0.87932	D	0	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	75;75;75	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	L	75	ENSP00000261008:R75L;ENSP00000261007:R75L;ENSP00000387026:R75L;ENSP00000386611:R75L;ENSP00000386684:R75L	ENSP00000261007:R75L	R	-	2	0	CHRNA1	175332315	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.768000	0.85345	2.826000	0.97356	0.563000	0.77884	CGT		0.443	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			7	71	1	0	2.7689e-08	1	3.02351e-08	7	71				
KIR3DL1	3811	broad.mit.edu	37	19	55331226	55331226	+	Missense_Mutation	SNP	G	G	C	rs201471071	byFrequency	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:55331226G>C	ENST00000391728.4	+	4	447	c.414G>C	c.(412-414)gaG>gaC	p.E138D	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E138D|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.E43D|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.E138D|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.E138D|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.E138D	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	138	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		AATCAGGAGAGAGAGTCATCC	0.488																																						ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(412-414)gaG>gaC		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1		G	ASP/GLU	0,4362		0,0,2181	58.0	55.0	56.0		414	1.3	0.0	19		56	5,8291		1,3,4144	no	missense	KIR3DL1	NM_013289.2	45	1,3,6325	CC,CG,GG		0.0603,0.0,0.0395		138/445	55331226	5,12653	2181	4148	6329	SO:0001583	missense	3811							g.chr19:55331226G>C	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.414G>C	19.37:g.55331226G>C	ENSP00000375608:p.Glu138Asp					KIR3DL1_ENST00000326542.7_Missense_Mutation_p.E138D|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.E43D|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E138D|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.E138D|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.E138D	p.E138D	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	4	447	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.414G>C	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	11.49	1.652881	0.29336	0.0	6.03E-4	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.00776	5.71;5.71;5.71;5.71;5.71;5.71	1.33	1.33	0.21861	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.472120	0.05414	U	0.543050	T	0.04724	0.0128	M	0.86502	2.82	0.09310	N	1	P;P;P;B	0.52842	0.956;0.956;0.941;0.298	P;D;D;B	0.68943	0.712;0.909;0.961;0.167	T	0.29912	-0.9996	10	0.87932	D	0	.	6.088	0.19978	0.0:0.0:1.0:0.0	.	138;43;138;138	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	D	138;138;138;116;138;138;43	ENSP00000384528:E138D;ENSP00000443350:E138D;ENSP00000442355:E138D;ENSP00000375608:E138D;ENSP00000326868:E138D;ENSP00000350901:E43D	ENSP00000326868:E138D	E	+	3	2	KIR3DL1	60023038	0.003000	0.15002	0.006000	0.13384	0.009000	0.06853	1.141000	0.31528	1.058000	0.40530	0.184000	0.17185	GAG		0.488	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		29	83	0	0	0	1	0	29	83				
C1QBP	708	broad.mit.edu	37	17	5338195	5338195	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:5338195C>T	ENST00000225698.4	-	3	556	c.475G>A	c.(475-477)Gag>Aag	p.E159K	CTC-524C5.2_ENST00000575890.1_RNA|C1QBP_ENST00000574444.1_Missense_Mutation_p.E55K	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	159					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	TAGCTTACCTCCTGTTCTTCA	0.438																																						ENST00000225698.4																			0				lung(2)|ovary(1)	3						c.(475-477)Gag>Aag		complement component 1, q subcomponent binding protein							117.0	105.0	109.0					17																	5338195		2203	4300	6503	SO:0001583	missense	708				blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane		g.chr17:5338195C>T	X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"""C1q globular domain-binding protein"", ""hyaluronan-binding protein 1"", ""splicing factor SF2-associated protein"""	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000225698.4:c.475G>A	17.37:g.5338195C>T	ENSP00000225698:p.Glu159Lys					C1QBP_ENST00000574444.1_Missense_Mutation_p.E55K	p.E159K	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN			3	556	-			159					Q2HXR8|Q9NNY8	Missense_Mutation	SNP	ENST00000225698.4	37	c.475G>A	CCDS11071.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831403	0.71258	.	.	ENSG00000108561	ENST00000225698	.	.	.	4.3	4.3	0.51218	.	0.050171	0.85682	D	0.000000	T	0.65365	0.2684	M	0.66939	2.045	0.54753	D	0.999985	P	0.39326	0.668	B	0.42112	0.376	T	0.71217	-0.4658	9	0.56958	D	0.05	-21.3832	16.2908	0.82750	0.0:1.0:0.0:0.0	.	159	Q07021	C1QBP_HUMAN	K	159	.	ENSP00000225698:E159K	E	-	1	0	C1QBP	5278919	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.632000	0.67819	2.378000	0.81104	0.563000	0.77884	GAG		0.438	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439388.1	NM_001212		4	43	0	0	0	1	0	4	43				
ZIC2	7546	broad.mit.edu	37	13	100634935	100634935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr13:100634935C>A	ENST00000376335.3	+	1	910	c.617C>A	c.(616-618)tCg>tAg	p.S206*		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	206	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.				brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GACCCCTACTCGGCGGCGCAA	0.662																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(616-618)tCg>tAg		Zic family member 2							16.0	18.0	17.0					13																	100634935		2189	4286	6475	SO:0001587	stop_gained	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100634935C>A	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.617C>A	13.37:g.100634935C>A	ENSP00000365514:p.Ser206*						p.S206*	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	910	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		206			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).		Q5VYA9|Q9H309	Nonsense_Mutation	SNP	ENST00000376335.3	37	c.617C>A	CCDS9495.1	.	.	.	.	.	.	.	.	.	.	C	40	8.051236	0.98629	.	.	ENSG00000043355	ENST00000376335;ENST00000425702	.	.	.	4.46	4.46	0.54185	.	0.073228	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	17.2443	0.87023	0.0:1.0:0.0:0.0	.	.	.	.	X	206	.	ENSP00000365514:S206X	S	+	2	0	ZIC2	99432936	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.609000	0.82925	2.484000	0.83849	0.462000	0.41574	TCG		0.662	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		11	101	1	0	7.03913e-09	1	7.77578e-09	11	101				
FBXW7	55294	broad.mit.edu	37	4	153249510	153249510	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr4:153249510C>A	ENST00000281708.4	-	9	2497	c.1268G>T	c.(1267-1269)gGa>gTa	p.G423V	FBXW7_ENST00000263981.5_Missense_Mutation_p.G343V|FBXW7_ENST00000393956.3_Missense_Mutation_p.G247V|FBXW7_ENST00000603841.1_Missense_Mutation_p.G423V|FBXW7_ENST00000603548.1_Missense_Mutation_p.G423V|FBXW7_ENST00000296555.5_Missense_Mutation_p.G305V	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	423					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.G423V(7)|p.G343V(2)|p.G305V(2)|p.G184V(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGACCATACTCCACCTGTATG	0.373			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		14	Substitution - Missense(13)|Unknown(1)	p.G423V(7)|p.G343V(2)|p.G305V(2)|p.G184V(2)|p.?(1)	endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1267-1269)gGa>gTa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							285.0	249.0	261.0					4																	153249510		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153249510C>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1268G>T	4.37:g.153249510C>A	ENSP00000281708:p.Gly423Val					FBXW7_ENST00000393956.3_Missense_Mutation_p.G247V|FBXW7_ENST00000603841.1_Missense_Mutation_p.G423V|FBXW7_ENST00000263981.5_Missense_Mutation_p.G343V|FBXW7_ENST00000296555.5_Missense_Mutation_p.G305V|FBXW7_ENST00000603548.1_Missense_Mutation_p.G423V	p.G423V	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			9	2497	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	423					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1268G>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665261	0.88251	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.9	5.9	0.94986	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73737	0.3625	L	0.52266	1.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74022	-0.3798	10	0.87932	D	0	-19.5226	20.2787	0.98501	0.0:1.0:0.0:0.0	.	247;423;305;343	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	V	423;305;343;247	ENSP00000281708:G423V;ENSP00000296555:G305V;ENSP00000263981:G343V;ENSP00000377528:G247V	ENSP00000263981:G343V	G	-	2	0	FBXW7	153468960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.798000	0.96311	0.650000	0.86243	GGA		0.373	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			47	61	1	0	7.88023e-25	1	8.80732e-25	47	61				
PIK3CA	5290	broad.mit.edu	37	3	178952119	178952119	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:178952119C>G	ENST00000263967.3	+	21	3331	c.3174C>G	c.(3172-3174)atC>atG	p.I1058M	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1058	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGGATTGGATCTTCCACACAA	0.398		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3172-3174)atC>atG		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							95.0	85.0	88.0					3																	178952119		1908	4136	6044	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952119C>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3174C>G	3.37:g.178952119C>G	ENSP00000263967:p.Ile1058Met	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.I1058M	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3331	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1058			PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3174C>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	0.101	-1.152569	0.01700	.	.	ENSG00000121879	ENST00000263967	D	0.81908	-1.55	6.08	5.04	0.67666	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.85682	D	0.000000	T	0.65312	0.2679	N	0.03608	-0.345	0.58432	D	0.999999	B	0.24533	0.105	B	0.18871	0.023	T	0.61964	-0.6954	10	0.24483	T	0.36	-10.4895	16.2916	0.82756	0.0:0.9271:0.0:0.0729	.	1058	P42336	PK3CA_HUMAN	M	1058	ENSP00000263967:I1058M	ENSP00000263967:I1058M	I	+	3	3	PIK3CA	180434813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.897000	0.39799	2.894000	0.99253	0.591000	0.81541	ATC		0.398	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			32	47	0	0	0	1	0	32	47				
ZNF585A	199704	broad.mit.edu	37	19	37644265	37644265	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:37644265G>C	ENST00000356958.4	-	5	794	c.536C>G	c.(535-537)aCc>aGc	p.T179S	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.T124S|ZNF585A_ENST00000355533.2_Missense_Mutation_p.T124S|ZNF585A_ENST00000292841.5_Missense_Mutation_p.T124S			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCATATGGGTTTTCTGGTG	0.388																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(535-537)aCc>aGc		zinc finger protein 585A							111.0	107.0	109.0					19																	37644265		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644265G>C	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.536C>G	19.37:g.37644265G>C	ENSP00000349440:p.Thr179Ser					ZNF585A_ENST00000355533.2_Missense_Mutation_p.T124S|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.T124S|ZNF585A_ENST00000292841.5_Missense_Mutation_p.T124S	p.T179S			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	794	-			179					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.536C>G		.	.	.	.	.	.	.	.	.	.	G	2.679	-0.275885	0.05679	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.19394	2.15;2.15;2.15;2.15	3.31	-0.567	0.11763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.689350	0.11967	N	0.512205	T	0.11367	0.0277	N	0.25094	0.71	0.23221	N	0.998097	B	0.02656	0.0	B	0.04013	0.001	T	0.25606	-1.0127	10	0.48119	T	0.1	.	3.6251	0.08111	0.2072:0.0:0.4537:0.339	.	179	Q6P3V2	Z585A_HUMAN	S	179;124;124;124	ENSP00000349440:T179S;ENSP00000292841:T124S;ENSP00000375998:T124S;ENSP00000347724:T124S	ENSP00000292841:T124S	T	-	2	0	ZNF585A	42336105	0.000000	0.05858	0.095000	0.20976	0.035000	0.12851	-1.045000	0.03528	-0.119000	0.11830	0.561000	0.74099	ACC		0.388	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		23	105	0	0	0	1	0	23	105				
TCEB3C	162699	broad.mit.edu	37	18	44554604	44554604	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr18:44554604C>T	ENST00000330682.2	-	1	1845	c.1610G>A	c.(1609-1611)cGa>cAa	p.R537Q	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	537					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTTGTAGTCTCGAATTGCCTT	0.602																																						ENST00000330682.2																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						c.(1609-1611)cGa>cAa		transcription elongation factor B polypeptide 3C (elongin A3)							82.0	83.0	83.0					18																	44554604		1219	2523	3742	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44554604C>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1610G>A	18.37:g.44554604C>T	ENSP00000328232:p.Arg537Gln					KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	p.R537Q	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN			1	1845	-			537						Missense_Mutation	SNP	ENST00000330682.2	37	c.1610G>A	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	11.03	1.518440	0.27211	.	.	ENSG00000183791	ENST00000330682	T	0.12361	2.69	1.35	-2.0	0.07433	.	0.966817	0.08280	U	0.970083	T	0.08268	0.0206	L	0.44542	1.39	0.09310	N	1	P	0.51147	0.942	B	0.31869	0.137	T	0.24368	-1.0162	10	0.72032	D	0.01	-1.7104	5.0188	0.14350	0.0:0.43:0.0:0.57	.	537	Q8NG57	ELOA3_HUMAN	Q	537	ENSP00000328232:R537Q	ENSP00000328232:R537Q	R	-	2	0	TCEB3C	42808602	0.976000	0.34144	0.000000	0.03702	0.011000	0.07611	0.472000	0.22116	-0.685000	0.05177	0.485000	0.47835	CGA		0.602	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		8	394	0	0	0	1	0	8	394				
LINC00969	440993	broad.mit.edu	37	3	195400848	195400848	+	lincRNA	SNP	G	G	A	rs7635190	byFrequency	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:195400848G>A	ENST00000445430.1	+	0	1444									long intergenic non-protein coding RNA 969																		TCGCAGAGTCGTGCAGGCCTG	0.552																																						ENST00000445430.1																			0																																																			0							g.chr3:195400848G>A	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.195400848G>A														0	1444	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.552	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	47	0	0	0	1	0	4	47				
MGAM	8972	broad.mit.edu	37	7	141800609	141800609	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:141800609A>G	ENST00000549489.2	+	45	5289	c.5194A>G	c.(5194-5196)Aaa>Gaa	p.K1732E	MGAM_ENST00000475668.2_Missense_Mutation_p.K2628E	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1732	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGCCGCCAGAAATTCATGGG	0.483																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(7882-7884)Aaa>Gaa		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						64.0	60.0	61.0					7																	141800609		1902	4118	6020	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141800609A>G	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5194A>G	7.37:g.141800609A>G	ENSP00000447378:p.Lys1732Glu					MGAM_ENST00000549489.2_Missense_Mutation_p.K1732E	p.K2628E			O43451	MGA_HUMAN			68	7936	+	Melanoma(164;0.0272)		1732					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.7882A>G	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.290585	0.59976	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.89196	-2.48	4.83	3.64	0.41730	.	.	.	.	.	D	0.83977	0.5371	L	0.41492	1.28	0.27859	N	0.940478	B	0.20164	0.042	B	0.14023	0.01	T	0.76019	-0.3112	9	0.59425	D	0.04	.	10.7629	0.46274	0.8403:0.1597:0.0:0.0	.	1732	O43451	MGA_HUMAN	E	1732;2629	ENSP00000447378:K1732E	ENSP00000373973:K1732E	K	+	1	0	MGAM	141447078	1.000000	0.71417	0.960000	0.40013	0.939000	0.58152	6.444000	0.73452	0.834000	0.34852	0.523000	0.50628	AAA		0.483	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			5	6	0	0	0	1	0	5	6				
MC3R	4159	broad.mit.edu	37	20	54824467	54824467	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr20:54824467G>A	ENST00000243911.2	+	1	680	c.568G>A	c.(568-570)Gtg>Atg	p.V190M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	190					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AATGGTCATTGTGTGCCTCAT	0.577																																						ENST00000243911.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26						c.(568-570)Gtg>Atg		melanocortin 3 receptor							225.0	195.0	205.0					20																	54824467		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824467G>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.568G>A	20.37:g.54824467G>A	ENSP00000243911:p.Val190Met						p.V190M	NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	680	+			227					Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.568G>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488168	0.64074	.	.	ENSG00000124089	ENST00000243911	T	0.39056	1.1	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000021	T	0.59783	0.2219	M	0.64997	1.995	0.43218	D	0.99509	D	0.69078	0.997	D	0.68621	0.959	T	0.62534	-0.6834	10	0.87932	D	0	.	13.0996	0.59212	0.0778:0.0:0.9222:0.0	.	227	P41968	MC3R_HUMAN	M	190	ENSP00000243911:V190M	ENSP00000243911:V190M	V	+	1	0	MC3R	54257874	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.317000	0.59184	2.500000	0.84329	0.650000	0.86243	GTG		0.577	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			53	45	0	0	0	1	0	53	45				
PLEKHG6	55200	broad.mit.edu	37	12	6421468	6421468	+	Missense_Mutation	SNP	C	C	T	rs570197517		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr12:6421468C>T	ENST00000396988.3	+	2	306	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R26W|PLEKHG6_ENST00000538208.1_3'UTR|PLEKHG6_ENST00000449001.2_5'Flank|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.R26W	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	26						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TTATGGGGGCCGGCATCGAGC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		15725	0.0		0.0	False		,,,				2504	0.001					ENST00000396988.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(76-78)Cgg>Tgg		pleckstrin homology domain containing, family G (with RhoGef domain) member 6							66.0	67.0	67.0					12																	6421468		2203	4300	6503	SO:0001583	missense	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6421468C>T	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.76C>T	12.37:g.6421468C>T	ENSP00000380185:p.Arg26Trp					PLEKHG6_ENST00000536531.1_Missense_Mutation_p.R26W|PLEKHG6_ENST00000538208.1_3'UTR|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R26W	p.R26W	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN			2	306	+			26					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	c.76C>T	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630385	0.14322	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988	T;T;T	0.50813	0.73;0.73;0.73	5.11	2.05	0.26809	.	0.259371	0.27000	N	0.021432	T	0.55970	0.1954	M	0.69823	2.125	0.19775	N	0.999956	D;D	0.71674	0.998;0.997	P;P	0.56474	0.799;0.635	T	0.47674	-0.9099	10	0.87932	D	0	-3.2593	7.5118	0.27577	0.3408:0.4943:0.1649:0.0	.	26;26	F5H731;Q3KR16	.;PKHG6_HUMAN	W	26	ENSP00000011684:R26W;ENSP00000442836:R26W;ENSP00000380185:R26W	ENSP00000011684:R26W	R	+	1	2	PLEKHG6	6291729	0.002000	0.14202	0.579000	0.28588	0.047000	0.14425	-0.809000	0.04510	0.826000	0.34661	-0.300000	0.09419	CGG		0.617	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		4	78	0	0	0	1	0	4	78				
WDR88	126248	broad.mit.edu	37	19	33639792	33639792	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:33639792A>G	ENST00000355868.3	+	5	731	c.655A>G	c.(655-657)Atc>Gtc	p.I219V	WDR88_ENST00000361680.2_Missense_Mutation_p.I219V	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	219										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CGCCGAGAACATCACCACCGT	0.502																																						ENST00000361680.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(655-657)Atc>Gtc		WD repeat domain 88							166.0	125.0	139.0					19																	33639792		2203	4300	6503	SO:0001583	missense	126248							g.chr19:33639792A>G	BC031227	CCDS12429.1	19q13.11	2013-01-09	2007-04-04	2007-04-04		ENSG00000166359		"""WD repeat domain containing"""	26999	protein-coding gene	gene with protein product			"""PQQ repeat and WD repeat domain containing"""	PQWD		12477932	Standard	NM_173479		Approved		uc002nui.3	Q6ZMY6		ENST00000355868.3:c.655A>G	19.37:g.33639792A>G	ENSP00000348129:p.Ile219Val					WDR88_ENST00000355868.3_Missense_Mutation_p.I219V	p.I219V			Q6ZMY6	WDR88_HUMAN			5	733	+	Esophageal squamous(110;0.137)		219					Q8NEF8	Missense_Mutation	SNP	ENST00000355868.3	37	c.655A>G	CCDS12429.1	.	.	.	.	.	.	.	.	.	.	A	12.39	1.924267	0.34002	.	.	ENSG00000166359	ENST00000355868;ENST00000361680	T;T	0.39406	1.08;1.08	5.46	-9.22	0.00675	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.333120	0.05060	N	0.479759	T	0.18676	0.0448	N	0.12746	0.255	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.14783	-1.0460	10	0.37606	T	0.19	.	4.6907	0.12780	0.1955:0.0921:0.6208:0.0916	.	219	Q6ZMY6	WDR88_HUMAN	V	219	ENSP00000348129:I219V;ENSP00000355148:I219V	ENSP00000348129:I219V	I	+	1	0	WDR88	38331632	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.040000	0.12104	-1.803000	0.01242	-0.312000	0.09012	ATC		0.502	WDR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450840.1	NM_173479		28	120	0	0	0	1	0	28	120				
SUV39H2	79723	broad.mit.edu	37	10	14939228	14939228	+	Silent	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr10:14939228T>C	ENST00000354919.6	+	3	561	c.561T>C	c.(559-561)gcT>gcC	p.A187A	SUV39H2_ENST00000313519.5_Silent_p.A127A|SUV39H2_ENST00000378325.3_Intron	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	187					cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TCAATGAAGCTACCTTTGGTT	0.363																																						ENST00000313519.5																			0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						c.(379-381)gcT>gcC		suppressor of variegation 3-9 homolog 2 (Drosophila)							133.0	130.0	131.0					10																	14939228		2203	4300	6503	SO:0001819	synonymous_variant	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14939228T>C	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.561T>C	10.37:g.14939228T>C						SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Silent_p.A187A	p.A127A	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN			2	612	+			187					D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Silent	SNP	ENST00000354919.6	37	c.381T>C	CCDS53494.1																																																																																				0.363	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		34	46	0	0	0	1	0	34	46				
OR4N5	390437	broad.mit.edu	37	14	20612258	20612258	+	Missense_Mutation	SNP	C	C	A	rs202234247		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr14:20612258C>A	ENST00000333629.1	+	1	364	c.364C>A	c.(364-366)Cgc>Agc	p.R122S	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GGCCTTTGACCGCTACATCGC	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		22226	0.0		0.001	False		,,,				2504	0.0					ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(364-366)Cgc>Agc		olfactory receptor, family 4, subfamily N, member 5							155.0	152.0	153.0					14																	20612258		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612258C>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.364C>A	14.37:g.20612258C>A	ENSP00000332110:p.Arg122Ser						p.R122S	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	364	+	all_cancers(95;0.00108)		122					Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.364C>A	CCDS32031.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.57	3.423673	0.62733	.	.	ENSG00000184394	ENST00000333629	T	0.77620	-1.11	4.0	3.1	0.35709	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000439	D	0.82536	0.5058	H	0.97983	4.12	0.38486	D	0.947846	P	0.39862	0.692	B	0.37267	0.245	D	0.84042	0.0365	10	0.87932	D	0	.	5.1472	0.14991	0.2028:0.6889:0.0:0.1083	.	122	Q8IXE1	OR4N5_HUMAN	S	122	ENSP00000332110:R122S	ENSP00000332110:R122S	R	+	1	0	OR4N5	19682098	0.361000	0.24972	1.000000	0.80357	0.840000	0.47671	0.858000	0.27845	1.022000	0.39626	0.655000	0.94253	CGC		0.483	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			51	78	1	0	8.72198e-27	1	9.98299e-27	51	78				
CYFIP2	26999	broad.mit.edu	37	5	156712414	156712414	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr5:156712414G>A	ENST00000521420.1	+	2	134	c.43G>A	c.(43-45)Gac>Aac	p.D15N	CYFIP2_ENST00000541131.1_Missense_Mutation_p.D15N|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000347377.6_Missense_Mutation_p.D15N|CYFIP2_ENST00000377576.3_Missense_Mutation_p.D15N|CYFIP2_ENST00000318218.6_Missense_Mutation_p.D15N|CYFIP2_ENST00000522463.1_Missense_Mutation_p.D15N					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCCAACGTGGACCTGCTTGA	0.537																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(43-45)Gac>Aac		cytoplasmic FMR1 interacting protein 2							47.0	54.0	51.0					5																	156712414		2167	4276	6443	SO:0001583	missense	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156712414G>A	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.43G>A	5.37:g.156712414G>A	ENSP00000430904:p.Asp15Asn					CYFIP2_ENST00000541131.1_Missense_Mutation_p.D15N|CYFIP2_ENST00000522463.1_Missense_Mutation_p.D15N|CYFIP2_ENST00000521420.1_Missense_Mutation_p.D15N|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.D15N|CYFIP2_ENST00000318218.6_Missense_Mutation_p.D15N	p.D15N	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	474	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	15						Missense_Mutation	SNP	ENST00000521420.1	37	c.43G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.619661	0.96660	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131	T;T;T;T;T;T	0.41758	0.99;2.12;2.13;0.99;0.99;1.83	5.61	5.61	0.85477	.	0.041485	0.85682	D	0.000000	T	0.60157	0.2247	L	0.57536	1.79	0.80722	D	1	P;D;P;B;P	0.55800	0.805;0.973;0.791;0.439;0.924	P;P;B;B;P	0.59424	0.857;0.663;0.198;0.209;0.857	T	0.58685	-0.7593	10	0.56958	D	0.05	-42.2612	20.0018	0.97417	0.0:0.0:1.0:0.0	.	15;15;15;15;15	E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;CYFP2_HUMAN	N	15	ENSP00000325817:D15N;ENSP00000428009:D15N;ENSP00000430904:D15N;ENSP00000313567:D15N;ENSP00000366799:D15N;ENSP00000444645:D15N	ENSP00000325817:D15N	D	+	1	0	CYFIP2	156644992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.289000	0.96061	2.793000	0.96121	0.655000	0.94253	GAC		0.537	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		6	4	0	0	0	1	0	6	4				
INO80D	54891	broad.mit.edu	37	2	206921004	206921004	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:206921004G>C	ENST00000403263.1	-	4	1286	c.882C>G	c.(880-882)ttC>ttG	p.F294L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	294					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TTATACATGAGAAGTGTGGAG	0.517																																						ENST00000403263.1																			0				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						c.(880-882)ttC>ttG		INO80 complex subunit D							96.0	102.0	100.0					2																	206921004		2009	4175	6184	SO:0001583	missense	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206921004G>C		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.882C>G	2.37:g.206921004G>C	ENSP00000384198:p.Phe294Leu						p.F294L	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN			4	1286	-			294					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.882C>G	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	G	9.779	1.174732	0.21704	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.28255	1.62;1.62	5.74	2.58	0.30949	.	0.297456	0.37906	N	0.001888	T	0.16041	0.0386	N	0.14661	0.345	0.22571	N	0.998977	B	0.02656	0.0	B	0.01281	0.0	T	0.16689	-1.0394	10	0.34782	T	0.22	.	8.0931	0.30811	0.0:0.3438:0.3338:0.3225	.	294	Q53TQ3-2	.	L	294;294;189	ENSP00000384198:F294L;ENSP00000402369:F189L	ENSP00000233270:F294L	F	-	3	2	INO80D	206629249	0.995000	0.38212	0.998000	0.56505	0.604000	0.37047	0.278000	0.18753	0.726000	0.32339	0.585000	0.79938	TTC		0.517	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		25	60	0	0	0	1	0	25	60				
WDR72	256764	broad.mit.edu	37	15	54003562	54003562	+	Silent	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:54003562A>G	ENST00000396328.1	-	8	1067	c.828T>C	c.(826-828)ggT>ggC	p.G276G	WDR72_ENST00000559418.1_Silent_p.G276G|WDR72_ENST00000557913.1_Silent_p.G275G|WDR72_ENST00000360509.5_Silent_p.G276G	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	276										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGTAACTGTGACCATCTTCTG	0.438																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(826-828)ggT>ggC		WD repeat domain 72							121.0	111.0	114.0					15																	54003562		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:54003562A>G	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.828T>C	15.37:g.54003562A>G						WDR72_ENST00000559418.1_Silent_p.G276G|WDR72_ENST00000557913.1_Silent_p.G275G|WDR72_ENST00000360509.5_Silent_p.G276G	p.G276G	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	8	1067	-			276					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.828T>C	CCDS10151.1																																																																																				0.438	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		5	38	0	0	0	1	0	5	38				
B4GALT4	8702	broad.mit.edu	37	3	118931403	118931403	+	Missense_Mutation	SNP	C	C	G	rs72655939	byFrequency	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:118931403C>G	ENST00000483209.1	-	8	1669	c.1028G>C	c.(1027-1029)gGt>gCt	p.G343A	B4GALT4_ENST00000467604.1_3'UTR|B4GALT4_ENST00000359213.3_Missense_Mutation_p.G343A|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000393765.2_Missense_Mutation_p.G343A			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	343					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GGGTCATGCACCAAACCAGAA	0.383																																						ENST00000483209.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14						c.(1027-1029)gGt>gCt		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	N-Acetyl-D-glucosamine(DB00141)						94.0	86.0	89.0					3																	118931403		2203	4300	6503	SO:0001583	missense	8702				membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity	g.chr3:118931403C>G	AF022367	CCDS2986.1	3q13.3	2013-02-19			ENSG00000121578	ENSG00000121578		"""Beta 4-glycosyltransferases"""	927	protein-coding gene	gene with protein product		604015				9597550	Standard	NM_003778		Approved	beta4Gal-T4	uc003eci.3	O60513	OTTHUMG00000159358	ENST00000483209.1:c.1028G>C	3.37:g.118931403C>G	ENSP00000420161:p.Gly343Ala					B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000359213.3_Missense_Mutation_p.G343A|B4GALT4_ENST00000393765.2_Missense_Mutation_p.G343A|B4GALT4_ENST00000467604.1_3'UTR	p.G343A			O60513	B4GT4_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	8	1669	-			343					Q68D68|Q9BSW3|Q9C078	Missense_Mutation	SNP	ENST00000483209.1	37	c.1028G>C	CCDS2986.1	.	.	.	.	.	.	.	.	.	.	C	8.129	0.782758	0.16189	.	.	ENSG00000121578	ENST00000483209;ENST00000359213;ENST00000393765	T;T;T	0.49432	0.78;0.78;0.78	5.38	-4.46	0.03536	.	0.571932	0.17622	N	0.167693	T	0.23133	0.0559	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09640	-1.0665	10	0.40728	T	0.16	0.054	9.3288	0.38010	0.0:0.2717:0.4557:0.2726	.	343	O60513	B4GT4_HUMAN	A	343	ENSP00000420161:G343A;ENSP00000352144:G343A;ENSP00000377360:G343A	ENSP00000352144:G343A	G	-	2	0	B4GALT4	120414093	0.000000	0.05858	0.006000	0.13384	0.606000	0.37113	-0.797000	0.04570	-0.712000	0.04988	0.655000	0.94253	GGT		0.383	B4GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354925.2	NM_003778		20	55	0	0	0	1	0	20	55				
ZNF775	285971	broad.mit.edu	37	7	150094611	150094611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:150094611C>T	ENST00000329630.5	+	3	1149	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCTTCCGCCAGAAGCAGCA	0.741																																						ENST00000329630.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11						c.(1042-1044)Cag>Tag		zinc finger protein 775							4.0	5.0	5.0					7																	150094611		1889	3810	5699	SO:0001587	stop_gained	285971				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:150094611C>T	BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1042C>T	7.37:g.150094611C>T	ENSP00000330838:p.Gln348*						p.Q348*	NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1149	+	Ovarian(565;0.183)|Melanoma(164;0.226)		348					Q8IY24	Nonsense_Mutation	SNP	ENST00000329630.5	37	c.1042C>T	CCDS43678.1	.	.	.	.	.	.	.	.	.	.	C	32	5.133697	0.94517	.	.	ENSG00000196456	ENST00000329630	.	.	.	3.78	3.78	0.43462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1325	0.59391	0.0:1.0:0.0:0.0	.	.	.	.	X	348	.	.	Q	+	1	0	ZNF775	149725544	0.000000	0.05858	1.000000	0.80357	0.845000	0.48019	-0.496000	0.06436	1.931000	0.55961	0.313000	0.20887	CAG		0.741	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680		5	14	0	0	0	1	0	5	14				
LINC00969	440993	broad.mit.edu	37	3	195400841	195400841	+	lincRNA	SNP	C	C	A	rs7615369		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:195400841C>A	ENST00000445430.1	+	0	1437									long intergenic non-protein coding RNA 969																		CTGAGCATCGCAGAGTCGTGC	0.552																																						ENST00000445430.1																			0																																																			0							g.chr3:195400841C>A	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.195400841C>A														0	1437	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.552	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	48	1	0	0.000442599	1	0.000452118	5	48				
CXorf57	55086	broad.mit.edu	37	X	105876451	105876451	+	Silent	SNP	G	G	A	rs372633270		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chrX:105876451G>A	ENST00000372548.4	+	6	1381	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	CXorf57_ENST00000372544.2_Silent_p.S424S	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	424							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTCAACATCGCAGCCAGAAA	0.318																																						ENST00000372548.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1270-1272)tcG>tcA		chromosome X open reading frame 57		G	,	0,3835		0,0,1632,571	59.0	57.0	58.0		1272,1272	-1.1	1.0	X		58	1,6726		0,1,2427,1871	no	coding-synonymous,coding-synonymous	CXorf57	NM_001184782.1,NM_018015.5	,	0,1,4059,2442	AA,AG,GG,G		0.0149,0.0,0.0095	,	424/759,424/856	105876451	1,10561	2203	4299	6502	SO:0001819	synonymous_variant	55086							g.chrX:105876451G>A	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1272G>A	X.37:g.105876451G>A						CXorf57_ENST00000372544.2_Silent_p.S424S	p.S424S	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN			6	1381	+			424					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Silent	SNP	ENST00000372548.4	37	c.1272G>A	CCDS14519.1																																																																																				0.318	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		19	5	0	0	0	1	0	19	5				
MUC17	140453	broad.mit.edu	37	7	100683707	100683707	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:100683707G>T	ENST00000306151.4	+	3	9074	c.9010G>T	c.(9010-9012)Gct>Tct	p.A3004S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3004	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCTGAGGCTAGCACCCT	0.517																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(9010-9012)Gct>Tct		mucin 17, cell surface associated							259.0	271.0	267.0					7																	100683707		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683707G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9010G>T	7.37:g.100683707G>T	ENSP00000302716:p.Ala3004Ser						p.A3004S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	9074	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3004			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9010G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	5.126	0.208893	0.09757	.	.	ENSG00000169876	ENST00000306151	T	0.01933	4.55	0.321	-0.642	0.11486	.	.	.	.	.	T	0.02688	0.0081	L	0.32530	0.975	0.09310	N	1	P	0.52463	0.953	P	0.53988	0.739	T	0.24083	-1.0170	9	0.07325	T	0.83	.	4.0938	0.09982	0.0:1.0E-4:0.3575:0.6425	.	3004	Q685J3	MUC17_HUMAN	S	3004	ENSP00000302716:A3004S	ENSP00000302716:A3004S	A	+	1	0	MUC17	100470427	0.000000	0.05858	0.007000	0.13788	0.012000	0.07955	-0.560000	0.05964	-0.823000	0.04301	0.121000	0.15741	GCT		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		173	478	1	0	1.34047e-99	1	1.55298e-99	173	478				
MAPK6	5597	broad.mit.edu	37	15	52356849	52356849	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:52356849C>G	ENST00000261845.5	+	6	2625	c.1818C>G	c.(1816-1818)ttC>ttG	p.F606L	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	606					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		ACTGTTTTTTCATAAATCAGT	0.403																																						ENST00000261845.5																			0				breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20						c.(1816-1818)ttC>ttG		mitogen-activated protein kinase 6							72.0	73.0	73.0					15																	52356849		2195	4293	6488	SO:0001583	missense	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52356849C>G	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1818C>G	15.37:g.52356849C>G	ENSP00000261845:p.Phe606Leu					CTD-2184D3.5_ENST00000558607.1_RNA	p.F606L	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN		all cancers(107;0.0028)	6	2625	+			606					B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	37	c.1818C>G	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.306308	0.01353	.	.	ENSG00000069956	ENST00000261845	T	0.64618	-0.11	5.27	-0.113	0.13568	.	0.057833	0.64402	N	0.000001	T	0.25568	0.0622	N	0.03050	-0.425	0.23243	N	0.998058	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	10	0.02654	T	1	-1.4559	5.7418	0.18098	0.0:0.496:0.235:0.269	.	606	Q16659	MK06_HUMAN	L	606	ENSP00000261845:F606L	ENSP00000261845:F606L	F	+	3	2	MAPK6	50144141	1.000000	0.71417	0.990000	0.47175	0.949000	0.60115	1.617000	0.36943	-0.242000	0.09667	-0.287000	0.09952	TTC		0.403	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		25	31	0	0	0	1	0	25	31				
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs10902490|rs528214697	byFrequency	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567																																						ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8289)caA>caG		E1A binding protein p400							25.0	29.0	28.0					12																	132547093		2173	4217	6390	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8289A>G	12.37:g.132547093A>G						EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389561.2_Silent_p.Q2727Q	p.Q2763Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8289A>G																																																																																					0.567	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	105	0	0	0	1	0	4	105				
MYO15A	51168	broad.mit.edu	37	17	18060487	18060487	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:18060487G>A	ENST00000205890.5	+	50	9069	c.8731G>A	c.(8731-8733)Gtg>Atg	p.V2911M	MYO15A_ENST00000418233.3_Missense_Mutation_p.V175M|MYO15A_ENST00000451725.2_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2911	SH3.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.V2911M(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCTGGCTGCGTGGTTCGCAG	0.672																																						ENST00000205890.5																			1	Substitution - Missense(1)	p.V2911M(1)	lung(1)	breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(8731-8733)Gtg>Atg		myosin XVA							26.0	35.0	32.0					17																	18060487		2057	4206	6263	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18060487G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.8731G>A	17.37:g.18060487G>A	ENSP00000205890:p.Val2911Met					MYO15A_ENST00000418233.3_Missense_Mutation_p.V175M	p.V2911M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			50	9069	+	all_neural(463;0.228)		2911			SH3.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.8731G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120579	0.37436	.	.	ENSG00000091536	ENST00000205890;ENST00000536811	D	0.90261	-2.64	5.18	4.2	0.49525	Src homology-3 domain (2);Variant SH3 (1);	.	.	.	.	D	0.92427	0.7596	L	0.43152	1.355	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.999	D;P;D	0.69824	0.966;0.9;0.961	D	0.92723	0.6193	9	0.72032	D	0.01	.	13.1463	0.59463	0.0772:0.0:0.9228:0.0	.	110;175;2911	B7Z6L1;B4DFC7;Q9UKN7	.;.;MYO15_HUMAN	M	2911;110	ENSP00000205890:V2911M	ENSP00000205890:V2911M	V	+	1	0	MYO15A	18001212	0.998000	0.40836	0.997000	0.53966	0.857000	0.48899	3.099000	0.50267	2.433000	0.82419	0.555000	0.69702	GTG		0.672	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		9	23	0	0	0	1	0	9	23				
GRIA4	2893	broad.mit.edu	37	11	105483157	105483157	+	Silent	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr11:105483157C>T	ENST00000530497.1	+	2	243	c.243C>T	c.(241-243)aaC>aaT	p.N81N	GRIA4_ENST00000282499.5_Silent_p.N81N|GRIA4_ENST00000428631.2_Silent_p.N81N|GRIA4_ENST00000393125.2_Silent_p.N81N|GRIA4_ENST00000525187.1_Silent_p.N81N|GRIA4_ENST00000393127.2_Silent_p.N81N|GRIA4_ENST00000527669.1_Silent_p.N81N			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	81					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CTGTAACAAACGCCTGTAAGT	0.363																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(241-243)aaC>aaT		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						77.0	73.0	75.0					11																	105483157		2202	4299	6501	SO:0001819	synonymous_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105483157C>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.243C>T	11.37:g.105483157C>T						GRIA4_ENST00000527669.1_Silent_p.N81N|GRIA4_ENST00000525187.1_Silent_p.N81N|GRIA4_ENST00000282499.5_Silent_p.N81N|GRIA4_ENST00000393125.2_Silent_p.N81N|GRIA4_ENST00000428631.2_Silent_p.N81N|GRIA4_ENST00000530497.1_Silent_p.N81N	p.N81N	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	3	689	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	81					Q86XE8	Silent	SNP	ENST00000530497.1	37	c.243C>T	CCDS8333.1																																																																																				0.363	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			11	4	0	0	0	1	0	11	4				
RGAG4	340526	broad.mit.edu	37	X	71350557	71350557	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chrX:71350557T>A	ENST00000545866.1	-	1	1201	c.834A>T	c.(832-834)aaA>aaT	p.K278N	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.K278N|NHSL2_ENST00000373677.1_5'Flank	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	278										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CCGACAGGCCTTTGAGGAATT	0.502																																						ENST00000545866.1																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24						c.(832-834)aaA>aaT		retrotransposon gag domain containing 4							97.0	94.0	95.0					X																	71350557		1894	4105	5999	SO:0001583	missense	340526							g.chrX:71350557T>A	AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.834A>T	X.37:g.71350557T>A	ENSP00000441366:p.Lys278Asn					NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.K278N	p.K278N			Q5HYW3	RGAG4_HUMAN			1	1201	-	Renal(35;0.156)		278					A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	c.834A>T	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	T	15.45	2.836133	0.50951	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.12879	2.64;2.64	3.82	0.0771	0.14406	Retrotransposon gag protein (1);	.	.	.	.	T	0.10121	0.0248	N	0.08118	0	0.25621	N	0.986406	P	0.52577	0.954	P	0.54060	0.741	T	0.27971	-1.0058	8	.	.	.	-3.0527	5.7537	0.18160	0.0:0.3819:0.0:0.6181	.	278	Q5HYW3	RGAG4_HUMAN	N	278	ENSP00000441366:K278N;ENSP00000418667:K278N	.	K	-	3	2	RGAG4	71267282	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	0.544000	0.23253	-0.080000	0.12685	0.430000	0.28490	AAA		0.502	RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455		56	70	0	0	0	1	0	56	70				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000332482.4_Silent_p.Q2688Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	107	0	0	0	1	0	4	107				
CASZ1	54897	broad.mit.edu	37	1	10699459	10699459	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:10699459C>T	ENST00000377022.3	-	21	5137	c.4820G>A	c.(4819-4821)gGc>gAc	p.G1607D	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1607					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGCGCGGGGCCCTCTGCCGC	0.746																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(4819-4821)gGc>gAc		castor zinc finger 1							5.0	7.0	6.0					1																	10699459		1655	3659	5314	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10699459C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4820G>A	1.37:g.10699459C>T	ENSP00000366221:p.Gly1607Asp					RP4-734G22.3_ENST00000606802.1_RNA	p.G1607D	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	21	5137	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	1607					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.4820G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	8.553	0.875890	0.17395	.	.	ENSG00000130940	ENST00000377022	.	.	.	2.17	2.17	0.27698	.	99.057700	0.01225	U	0.008200	T	0.41328	0.1154	N	0.19112	0.55	0.80722	D	1	B	0.34290	0.447	B	0.30646	0.118	T	0.21314	-1.0249	9	0.41790	T	0.15	.	11.1397	0.48396	0.0:1.0:0.0:0.0	.	1607	Q86V15	CASZ1_HUMAN	D	1607	.	ENSP00000366221:G1607D	G	-	2	0	CASZ1	10622046	1.000000	0.71417	0.988000	0.46212	0.451000	0.32288	1.346000	0.33964	1.156000	0.42514	0.195000	0.17529	GGC		0.746	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		4	6	0	0	0	1	0	4	6				
CACNA1E	777	broad.mit.edu	37	1	181702035	181702035	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:181702035G>A	ENST00000367573.2	+	20	2813	c.2813G>A	c.(2812-2814)cGg>cAg	p.R938Q	CACNA1E_ENST00000360108.3_Missense_Mutation_p.R919Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R870Q|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R919Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R889Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R545Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R938Q	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	938					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.R938Q(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCAGCCTCCCGGAGCAGGTCT	0.642																																						ENST00000526775.1																			1	Substitution - Missense(1)	p.R938Q(1)	prostate(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(2755-2757)cGg>cAg		calcium channel, voltage-dependent, R type, alpha 1E subunit							71.0	79.0	76.0					1																	181702035		2158	4266	6424	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181702035G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.2813G>A	1.37:g.181702035G>A	ENSP00000356545:p.Arg938Gln					CACNA1E_ENST00000367567.4_Missense_Mutation_p.R545Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R870Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R938Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R889Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R919Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R938Q	p.R919Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			19	2921	+			938					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.2756G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416146	0.25552	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96232	-3.88;-3.88;-3.88;-3.88;-3.95;-3.89;-3.88	4.03	3.12	0.35913	.	0.961698	0.08658	N	0.912939	D	0.89255	0.6663	N	0.08118	0	0.21604	N	0.999629	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.80750	-0.1243	10	0.30854	T	0.27	.	5.6446	0.17582	0.301:0.0:0.699:0.0	.	919;938;938	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	Q	938;919;889;870;545;919;938	ENSP00000356542:R938Q;ENSP00000434814:R919Q;ENSP00000350183:R889Q;ENSP00000351101:R870Q;ENSP00000356539:R545Q;ENSP00000353222:R919Q;ENSP00000356545:R938Q	ENSP00000350183:R889Q	R	+	2	0	CACNA1E	179968658	0.933000	0.31639	0.965000	0.40720	0.551000	0.35334	0.881000	0.28173	1.281000	0.44480	0.555000	0.69702	CGG		0.642	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		46	90	0	0	0	1	0	46	90				
FAM135B	51059	broad.mit.edu	37	8	139164617	139164617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr8:139164617G>A	ENST00000395297.1	-	13	2271	c.2101C>T	c.(2101-2103)Cga>Tga	p.R701*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	701										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCCCTGCTTCGGGCCTCTGAC	0.557										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(2101-2103)Cga>Tga		family with sequence similarity 135, member B							46.0	47.0	47.0					8																	139164617		1920	4114	6034	SO:0001587	stop_gained	51059							g.chr8:139164617G>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2101C>T	8.37:g.139164617G>A	ENSP00000378710:p.Arg701*	HNSCC(54;0.14)					p.R701*	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2271	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		701					B5MDB3|O95879|Q2WGJ7|Q3KP46	Nonsense_Mutation	SNP	ENST00000395297.1	37	c.2101C>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	43	10.148847	0.99346	.	.	ENSG00000147724	ENST00000395297	.	.	.	5.65	4.76	0.60689	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7347	14.9501	0.71067	0.0:0.0:0.8563:0.1437	.	.	.	.	X	701	.	ENSP00000276737:R701X	R	-	1	2	FAM135B	139233799	0.996000	0.38824	0.195000	0.23364	0.949000	0.60115	3.099000	0.50267	1.358000	0.45922	0.655000	0.94253	CGA		0.557	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		16	30	0	0	0	1	0	16	30				
RGS14	10636	broad.mit.edu	37	5	176793982	176793982	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr5:176793982G>A	ENST00000408923.3	+	5	618	c.430G>A	c.(430-432)Gag>Aag	p.E144K		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	144	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGCTTGGCGAGGAGGTGCT	0.637																																					NSCLC(47;353 1896 28036)	ENST00000408923.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12						c.(430-432)Gag>Aag		regulator of G-protein signaling 14							31.0	40.0	37.0					5																	176793982		1959	4143	6102	SO:0001583	missense	10636				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	g.chr5:176793982G>A	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.430G>A	5.37:g.176793982G>A	ENSP00000386229:p.Glu144Lys						p.E144K	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	618	+	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	144			RGS.		O43565|Q506M1|Q6ZWA4|Q8TD62	Missense_Mutation	SNP	ENST00000408923.3	37	c.430G>A	CCDS43405.1	.	.	.	.	.	.	.	.	.	.	G	33	5.285495	0.95517	.	.	ENSG00000169220	ENST00000408923	T	0.02067	4.47	4.26	4.26	0.50523	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.061281	0.64402	D	0.000005	T	0.06416	0.0165	L	0.35644	1.08	0.58432	D	0.999999	D	0.61080	0.989	D	0.68483	0.958	T	0.53809	-0.8386	10	0.30078	T	0.28	-27.5533	13.4284	0.61039	0.0:0.1587:0.8413:0.0	.	144	O43566	RGS14_HUMAN	K	144	ENSP00000386229:E144K	ENSP00000386229:E144K	E	+	1	0	RGS14	176726588	1.000000	0.71417	0.993000	0.49108	0.951000	0.60555	5.198000	0.65147	2.226000	0.72624	0.313000	0.20887	GAG		0.637	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480		34	59	0	0	0	1	0	34	59				
MT-ND2	4536	broad.mit.edu	37	M	2387	2387	+	5'Flank	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chrM:2387T>C	ENST00000361453.3	+	0	0				MT-TM_ENST00000387377.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CAGCCCAATATCTACAATCAA	0.378																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2387T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2387T>C	Exception_encountered							NR_039705.1						0	717	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.378	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		49	1	0	0	0	1	0	49	1				
SPOP	8405	broad.mit.edu	37	17	47696730	47696730	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:47696730G>C	ENST00000393328.2	-	5	583	c.218C>G	c.(217-219)cCc>cGc	p.P73R	SPOP_ENST00000347630.2_Missense_Mutation_p.P73R|SPOP_ENST00000504102.1_Missense_Mutation_p.P73R|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000503676.1_Missense_Mutation_p.P73R|SPOP_ENST00000393331.3_Missense_Mutation_p.P73R	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	73	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TAACCCTTTGGGGTTTACTCG	0.393										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(217-219)cCc>cGc		speckle-type POZ protein							69.0	65.0	66.0					17																	47696730		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696730G>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.218C>G	17.37:g.47696730G>C	ENSP00000377001:p.Pro73Arg	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.P73R|SPOP_ENST00000503676.1_Missense_Mutation_p.P73R|SPOP_ENST00000393328.2_Missense_Mutation_p.P73R|SPOP_ENST00000347630.2_Missense_Mutation_p.P73R|SPOP_ENST00000513080.1_5'UTR	p.P73R	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	688	-			73			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.218C>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456666	0.84317	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	D;D;D;D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.94175	0.8131	H	0.95712	3.71	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.95208	0.8323	10	0.87932	D	0	-8.2641	19.2223	0.93803	0.0:0.0:1.0:0.0	.	73	O43791	SPOP_HUMAN	R	73;73;73;73;73;26;73;73;73;73;73	ENSP00000377001:P73R;ENSP00000377004:P73R;ENSP00000240327:P73R;ENSP00000425905:P73R;ENSP00000420908:P73R;ENSP00000426986:P73R;ENSP00000420960:P73R;ENSP00000426262:P73R;ENSP00000424119:P73R;ENSP00000426537:P73R	ENSP00000240327:P73R	P	-	2	0	SPOP	45051729	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.652000	0.98499	2.873000	0.98535	0.563000	0.77884	CCC		0.393	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		25	2	0	0	0	1	0	25	2				
GJD2	57369	broad.mit.edu	37	15	35045104	35045104	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:35045104G>T	ENST00000290374.4	-	2	1017	c.541C>A	c.(541-543)Cta>Ata	p.L181I	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	181					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCAGTGCGTAGACCTGATGGG	0.493																																						ENST00000290374.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19						c.(541-543)Cta>Ata		gap junction protein, delta 2, 36kDa							156.0	164.0	161.0					15																	35045104		2201	4298	6499	SO:0001583	missense	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045104G>T	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.541C>A	15.37:g.35045104G>T	ENSP00000290374:p.Leu181Ile						p.L181I	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	1017	-		all_lung(180;9.67e-07)	181					Q2M241|Q9P2R0	Missense_Mutation	SNP	ENST00000290374.4	37	c.541C>A	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096907	0.20552	.	.	ENSG00000159248	ENST00000290374	D	0.98075	-4.7	6.07	1.15	0.20763	.	0.735573	0.11623	N	0.545627	D	0.91188	0.7224	N	0.08118	0	0.32343	N	0.559471	B	0.18610	0.029	B	0.16722	0.016	D	0.86369	0.1722	10	0.19590	T	0.45	.	6.8847	0.24193	0.1545:0.0:0.5896:0.2558	.	181	Q9UKL4	CXD2_HUMAN	I	181	ENSP00000290374:L181I	ENSP00000290374:L181I	L	-	1	2	GJD2	32832396	1.000000	0.71417	0.994000	0.49952	0.874000	0.50279	2.376000	0.44292	0.328000	0.23435	0.650000	0.86243	CTA		0.493	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			4	110	1	0	0.150653	1	0.150653	4	110				
UBE2L6	9246	broad.mit.edu	37	11	57335061	57335061	+	Silent	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr11:57335061C>A	ENST00000287156.4	-	1	219	c.24G>T	c.(22-24)gtG>gtT	p.V8V	UBE2L6_ENST00000340573.4_Intron	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	8					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|ovary(1)	5						CGGTTACCTTCACCACTCGCA	0.662																																						ENST00000287156.4																			0				large_intestine(1)|lung(3)|ovary(1)	5						c.(22-24)gtG>gtT		ubiquitin-conjugating enzyme E2L 6							160.0	107.0	125.0					11																	57335061		2201	4296	6497	SO:0001819	synonymous_variant	9246				negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity	g.chr11:57335061C>A	AF031141, AK093462, BC032491	CCDS7960.1, CCDS7961.1	11q12.1	2008-02-01			ENSG00000156587	ENSG00000156587		"""Ubiquitin-conjugating enzymes E2"""	12490	protein-coding gene	gene with protein product		603890				9153201	Standard	NM_004223		Approved	UBCH8	uc001nkn.2	O14933	OTTHUMG00000167047	ENST00000287156.4:c.24G>T	11.37:g.57335061C>A						UBE2L6_ENST00000340573.4_Intron	p.V8V	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN			1	219	-			8					A6NDM6|A8MY53|Q8N5D8|Q9UEZ0	Silent	SNP	ENST00000287156.4	37	c.24G>T	CCDS7960.1																																																																																				0.662	UBE2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392657.1	NM_004223		5	10	1	0	0.0215528	1	0.021782	5	10				
SDR9C7	121214	broad.mit.edu	37	12	57327822	57327822	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr12:57327822G>T	ENST00000293502.1	-	1	367	c.224C>A	c.(223-225)aCc>aAc	p.T75N		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	75					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CAGTAGGGTGGTCTGCAGCCG	0.577																																						ENST00000293502.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(223-225)aCc>aAc		short chain dehydrogenase/reductase family 9C, member 7							78.0	72.0	74.0					12																	57327822		2203	4300	6503	SO:0001583	missense	121214					cytoplasm	binding|oxidoreductase activity	g.chr12:57327822G>T	AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.224C>A	12.37:g.57327822G>T	ENSP00000293502:p.Thr75Asn						p.T75N	NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN			1	367	-			75					B3KVB4	Missense_Mutation	SNP	ENST00000293502.1	37	c.224C>A	CCDS8926.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786974	0.49997	.	.	ENSG00000170426	ENST00000293502	D	0.88046	-2.33	5.17	3.28	0.37604	NAD(P)-binding domain (1);	0.185365	0.34750	N	0.003712	D	0.93161	0.7822	M	0.88450	2.955	0.45354	D	0.998342	D	0.63880	0.993	D	0.67900	0.954	D	0.93652	0.6974	10	0.66056	D	0.02	.	11.5138	0.50509	0.1553:0.0:0.8447:0.0	.	75	Q8NEX9	DR9C7_HUMAN	N	75	ENSP00000293502:T75N	ENSP00000293502:T75N	T	-	2	0	SDR9C7	55614089	1.000000	0.71417	0.984000	0.44739	0.029000	0.11900	6.120000	0.71596	1.394000	0.46624	0.650000	0.86243	ACC		0.577	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411211.1	NM_148897		56	35	1	0	7.89702e-26	1	8.93116e-26	56	35				
B4GALT2	8704	broad.mit.edu	37	1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-	rs149892509		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)agcdel	p.S65del	B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.A14del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(175-177)del		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)		,,	4,48,4198		0,0,4,5,38,2078					,,		1.0		dbSNP_130	46	6,104,8118		1,0,4,11,82,4016	no	codingComplex,codingComplex,codingComplex	B4GALT2	NM_030587.2,NM_003780.4,NM_001005417.2	,,	1,0,8,16,120,6094	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3369,1.2235,1.2983	,,	,,		10,152,12316				SO:0001651	inframe_deletion	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44447007_44447009delAGC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.175_177delAGC	1.37:g.44447016_44447018delAGC	ENSP00000349293:p.Ser65del					B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del	p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	965_967	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	65					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	In_Frame_Del	DEL	ENST00000356836.6	37	c.175_177delAGC	CCDS506.1																																																																																				0.685	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		7	124						7	124	---	---	---	---
LINC01562	104054213	broad.mit.edu	37	1	51662882	51662882	+	lincRNA	DEL	A	A	-			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:51662882delA	ENST00000366181.2	-	0	250																		p.0?(2)									aaataaaaataaaaaaaaaTT	0.502																																						ENST00000366181.2																			2	Whole gene deletion(2)	p.0?(2)	thyroid(1)|central_nervous_system(1)																																																0							g.chr1:51662882delA																													1.37:g.51662882delA														0	250	-									RNA	DEL	ENST00000366181.2	37																																																																																						0.502	RP11-296A18.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000022441.1			3	5						3	5	---	---	---	---
LOC645166	645166	broad.mit.edu	37	1	148948176	148948181	+	lincRNA	DEL	GAGAGA	GAGAGA	-	rs35535251|rs550680089	byFrequency	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:148948176_148948181delGAGAGA	ENST00000539543.1	+	0	254					NR_027355.2																						agaggaagaggagagagagagagaga	0.408																																						ENST00000539543.1																			0																																																			0							g.chr1:148948176_148948181delGAGAGA																													1.37:g.148948182_148948187delGAGAGA								NR_027355.1						0	254	+									RNA	DEL	ENST00000539543.1	37																																																																																						0.408	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				4	4						4	4	---	---	---	---
KPRP	448834	broad.mit.edu	37	1	152732884	152732884	+	Missense_Mutation	SNP	C	C	T	rs148079077		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:152732884C>T	ENST00000606109.1	+	1	848	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	KPRP_ENST00000368773.1_Missense_Mutation_p.R274C			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	274	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R274C(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCACCAAGACGTTTTGAGCC	0.592																																						ENST00000368773.1																			1	Substitution - Missense(1)	p.R274C(1)	endometrium(1)	NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(820-822)Cgt>Tgt		keratinocyte proline-rich protein		C	CYS/ARG	0,4406		0,0,2203	37.0	44.0	42.0		820	-1.8	0.0	1	dbSNP_134	42	1,8599	1.2+/-3.3	0,1,4299	no	missense	KPRP	NM_001025231.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	274/580	152732884	1,13005	2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732884C>T	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.820C>T	1.37:g.152732884C>T	ENSP00000475216:p.Arg274Cys					KPRP_ENST00000606109.1_Missense_Mutation_p.R274C	p.R274C	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	878	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		274			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.820C>T	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627313	0.28978	0.0	1.16E-4	ENSG00000203786	ENST00000368773	T	0.12672	2.66	5.15	-1.8	0.07907	.	0.756933	0.11753	N	0.532862	T	0.02688	0.0081	L	0.29908	0.895	0.09310	N	1	B	0.24533	0.105	B	0.17433	0.018	T	0.42783	-0.9431	10	0.87932	D	0	-1.6297	5.2582	0.15558	0.5569:0.2776:0.0:0.1656	.	274	Q5T749	KPRP_HUMAN	C	274	ENSP00000357762:R274C	ENSP00000357762:R274C	R	+	1	0	KPRP	150999508	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-1.096000	0.03353	-0.093000	0.12396	0.655000	0.94253	CGT		0.592	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		63	39	0	0	0	1	0	63	39				
FLJ33534	285150	broad.mit.edu	37	2	11253956	11253974	+	lincRNA	DEL	CTTCCTTCCTTCCTTTCCC	CTTCCTTCCTTCCTTTCCC	-	rs532321567|rs72268670		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:11253956_11253974delCTTCCTTCCTTCCTTTCCC	ENST00000396164.1	-	0	984					NR_040080.1																						ctccttccttcttccttccttcctttccccttccttcct	0.521																																						ENST00000396164.1																			0																																																			0							g.chr2:11253956_11253974delCTTCCTTCCTTCCTTTCCC																													2.37:g.11253956_11253974delCTTCCTTCCTTCCTTTCCC								NR_040080.1						0	984	-									RNA	DEL	ENST00000396164.1	37																																																																																						0.521	AC062028.1-202	KNOWN	basic	lincRNA	lincRNA				2	4						2	4	---	---	---	---
RTN4	57142	broad.mit.edu	37	2	55276891	55276892	+	Frame_Shift_Del	DEL	CG	CG	-	rs535895623		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:55276891_55276892delCG	ENST00000337526.6	-	1	788_789	c.545_546delCG	c.(544-546)tcgfs	p.S182fs	RTN4_ENST00000357376.3_5'Flank|RTN4_ENST00000405240.1_5'Flank|RTN4_ENST00000357732.4_Frame_Shift_Del_p.S182fs|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000394611.2_Intron|RTN4_ENST00000402434.2_Frame_Shift_Del_p.S154fs|RTN4_ENST00000404909.1_Intron|RTN4_ENST00000317610.7_Frame_Shift_Del_p.S182fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	182					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CCACTGAGCCCGAGGAGCCCCT	0.757																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(544-546)tfs		reticulon 4																																				SO:0001589	frameshift_variant	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55276891_55276892delCG	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.545_546delCG	2.37:g.55276891_55276892delCG	ENSP00000337838:p.Ser182fs					RTN4_ENST00000402434.2_Frame_Shift_Del_p.S154fs|RTN4_ENST00000394611.2_Intron|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000317610.7_Frame_Shift_Del_p.S182fs|RTN4_ENST00000404909.1_Intron|RTN4_ENST00000357732.4_Frame_Shift_Del_p.S182fs	p.S182fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			1	788_789	-			182					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Frame_Shift_Del	DEL	ENST00000337526.6	37	c.545_546delCG	CCDS42684.1																																																																																				0.757	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			2	4						2	4	---	---	---	---
AC097532.2	0	broad.mit.edu	37	2	133045165	133045166	+	lincRNA	DEL	GA	GA	-	rs112889460		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:133045165_133045166delGA	ENST00000440802.1	-	0	224																											ggcatgtttggagagtagctgg	0.545																																						ENST00000440802.1																			0																																																			0							g.chr2:133045165_133045166delGA																													2.37:g.133045167_133045168delGA														0	224	-									RNA	DEL	ENST00000440802.1	37																																																																																						0.545	AC097532.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331805.1			4	2						4	2	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400814	195400815	+	lincRNA	INS	-	-	TT	rs371598334		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:195400814_195400815insTT	ENST00000445430.1	+	0	1410_1411									long intergenic non-protein coding RNA 969																		ACCTGGTTGTCTGGTCAGGCAT	0.574																																						ENST00000445430.1																			0																																																			0							g.chr3:195400814_195400815insTT	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.195400814_195400815insTT														0	1410_1411	+									RNA	INS	ENST00000445430.1	37																																																																																						0.574	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	53						7	53	---	---	---	---
SEC16A	9919	broad.mit.edu	37	9	139342755	139342756	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr9:139342755_139342756insG	ENST00000313084.5	-	1	538_539	c.276_277insC	c.(274-279)cccaccfs	p.T93fs	SEC16A_ENST00000398335.1_Frame_Shift_Ins_p.T93fs|SEC16A_ENST00000313050.7_Intron|SEC16A_ENST00000431893.2_Intron|SEC16A_ENST00000371706.3_Intron|SEC16A_ENST00000290037.6_Intron			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		agaatggaggtGGGAGCAGATC	0.559																																						ENST00000398335.1																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(274-279)cccctcfs		SEC16 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139342755_139342756insG	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313084.5:c.277dupC	9.37:g.139342758_139342758dupG	ENSP00000317437:p.Thr93fs					SEC16A_ENST00000371706.3_Intron|SEC16A_ENST00000313084.5_Frame_Shift_Ins_p.L93fs|SEC16A_ENST00000290037.6_Intron|SEC16A_ENST00000431893.2_Intron|SEC16A_ENST00000313050.7_Intron	p.L93fs			O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	2	1676_1677	-		Myeloproliferative disorder(178;0.0511)	667					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Frame_Shift_Ins	INS	ENST00000313084.5	37	c.276_277insC																																																																																					0.559	SEC16A-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055078.1	XM_088459		2	4						2	4	---	---	---	---
UTF1	8433	broad.mit.edu	37	10	135044121	135044121	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr10:135044121delC	ENST00000304477.2	+	1	344	c.329delC	c.(328-330)accfs	p.T110fs		NM_003577.2	NP_003568.2			undifferentiated embryonic cell transcription factor 1											upper_aerodigestive_tract(1)	1		all_cancers(35;3.05e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GTGCGCCGCACCCCCGCGCAG	0.736																																						ENST00000304477.2																			0				upper_aerodigestive_tract(1)	1						c.(328-330)acfs		undifferentiated embryonic cell transcription factor 1							2.0	3.0	3.0					10																	135044121		1328	3114	4442	SO:0001589	frameshift_variant	8433				male gonad development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription coactivator activity	g.chr10:135044121delC	AB011076	CCDS31318.1	10q26	2008-07-04			ENSG00000171794	ENSG00000171794			12634	protein-coding gene	gene with protein product		604130				9748258, 18281244	Standard	NM_003577		Approved		uc001lmc.3	Q5T230	OTTHUMG00000019302	ENST00000304477.2:c.329delC	10.37:g.135044121delC	ENSP00000305906:p.Thr110fs						p.T110fs	NM_003577.2	NP_003568.2	Q5T230	UTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)	1	344	+		all_cancers(35;3.05e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	110			Pro-rich.			Frame_Shift_Del	DEL	ENST00000304477.2	37	c.329delC	CCDS31318.1																																																																																				0.736	UTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051105.1			2	4						2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579575	7579575	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:7579575delG	ENST00000269305.4	-	4	301	c.112delC	c.(112-114)caafs	p.Q38fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.Q38fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.Q38fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.Q38fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.Q38fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.Q38fs	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	38	Interaction with HRMT1L2.|Transcription activation (acidic).				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.Q38*(8)|p.0?(8)|p.P36fs*4(3)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S37fs*79(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)	TCCATTGCTTGGGACGGCAAG	0.592		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"""		23	Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(1)	p.Q38*(8)|p.0?(8)|p.P36fs*4(3)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S37fs*79(1)	lung(4)|prostate(4)|bone(4)|ovary(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|oesophagus(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.(112-114)aafs	Other conserved DNA damage response genes	tumor protein p53							159.0	156.0	157.0					17																	7579575		2203	4300	6503	SO:0001589	frameshift_variant	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.chr17:7579575delG	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.112delC	17.37:g.7579575delG	ENSP00000269305:p.Gln38fs	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_ENST00000413465.2_Frame_Shift_Del_p.Q38fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.Q38fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.Q38fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.Q38fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.Q38fs	p.Q38fs	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)	4	244	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	38			Interaction with HRMT1L2.|Transcription activation (acidic).		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.112delC	CCDS11118.1																																																																																				0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		210	27						210	27	---	---	---	---
AC011524.1	0	broad.mit.edu	37	19	29379252	29379253	+	lincRNA	INS	-	-	AC	rs138105063|rs115254012		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:29379252_29379253insAC	ENST00000591285.1	+	0	362																											CAGGACCCTGGGCAGAGTTCCG	0.683																																						ENST00000591285.1																			0																																																			0							g.chr19:29379252_29379253insAC																													19.37:g.29379252_29379253insAC														0	362	+									RNA	INS	ENST00000591285.1	37																																																																																						0.683	AC011524.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000458525.1			4	9						4	9	---	---	---	---
LOC101927202	101927202	broad.mit.edu	37	22	39487824	39487825	+	RNA	DEL	GT	GT	-	rs190886491	byFrequency	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr22:39487824_39487825delGT	ENST00000424436.1	+	0	163																											GGCCTGAGGGGTGTGTGTGGGG	0.629																																						ENST00000424436.1																			0																																																			0							g.chr22:39487824_39487825delGT																													22.37:g.39487830_39487831delGT														0	163	+									RNA	DEL	ENST00000424436.1	37																																																																																						0.629	RP4-742C19.12-001	KNOWN	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000321691.2			2	4						2	4	---	---	---	---
