#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
CEP350	9857	broad.mit.edu	37	1	180061879	180061879	+	Silent	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:180061879G>A	ENST00000367607.3	+	34	7057	c.6639G>A	c.(6637-6639)agG>agA	p.R2213R	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2213					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATCATCAAGGAAAATCAGAG	0.368																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(6637-6639)agG>agA		centrosomal protein 350kDa							33.0	34.0	34.0					1																	180061879		2201	4300	6501	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:180061879G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6639G>A	1.37:g.180061879G>A						CEP350_ENST00000490141.1_3'UTR	p.R2213R	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			34	7057	+			2213					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.6639G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.212797	0.00289	.	.	ENSG00000135837	ENST00000429851	.	.	.	5.63	1.6	0.23607	.	.	.	.	.	T	0.21801	0.0525	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	T	0.21484	-1.0244	4	.	.	.	.	1.9066	0.03278	0.2831:0.1285:0.4563:0.132	.	.	.	.	K	388	.	.	E	+	1	0	CEP350	178328502	0.994000	0.37717	0.057000	0.19452	0.022000	0.10575	0.482000	0.22276	0.293000	0.22520	-0.175000	0.13238	GAA		0.368	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		4	16	0	0	0	1	0	4	16				
C11orf48	79081	broad.mit.edu	37	11	62435195	62435195	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:62435195G>A	ENST00000431002.2	-	2	2149	c.416C>T	c.(415-417)cCt>cTt	p.P139L	SNORA57_ENST00000383870.1_RNA|METTL12_ENST00000532971.1_3'UTR|C11orf48_ENST00000525675.1_5'Flank|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf83_ENST00000531323.1_5'Flank|C11orf48_ENST00000532208.1_Missense_Mutation_p.P113L|C11orf48_ENST00000524958.1_5'Flank|C11orf48_ENST00000354588.3_Missense_Mutation_p.P113L			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	139										endometrium(1)|lung(5)|urinary_tract(1)	7						AGGACTTCTAGGGTCCTGTGG	0.478																																						ENST00000431002.2																			0				endometrium(1)|lung(5)|urinary_tract(1)	7						c.(415-417)cCt>cTt		chromosome 11 open reading frame 48							131.0	135.0	134.0					11																	62435195		2202	4299	6501	SO:0001583	missense	79081							g.chr11:62435195G>A	BC001434	CCDS8028.1	11q12.3	2014-02-12			ENSG00000162194	ENSG00000162194			28351	protein-coding gene	gene with protein product						12477932	Standard	NM_024099		Approved	MGC2477	uc001nuf.3	Q9BQE6	OTTHUMG00000167588	ENST00000431002.2:c.416C>T	11.37:g.62435195G>A	ENSP00000416856:p.Pro139Leu					C11orf48_ENST00000354588.3_Missense_Mutation_p.P113L|C11orf48_ENST00000532208.1_Missense_Mutation_p.P113L|METTL12_ENST00000532971.1_3'UTR	p.P139L			Q9BQE6	CK048_HUMAN			2	2149	-			139					Q96NA4	Missense_Mutation	SNP	ENST00000431002.2	37	c.416C>T		.	.	.	.	.	.	.	.	.	.	G	3.452	-0.111879	0.06881	.	.	ENSG00000162194	ENST00000354588;ENST00000431002;ENST00000532208	.	.	.	4.22	3.31	0.37934	.	0.507685	0.14848	N	0.294861	T	0.35799	0.0944	N	0.14661	0.345	0.46521	D	0.999086	B;B	0.31680	0.335;0.043	B;B	0.34931	0.192;0.029	T	0.29701	-1.0003	9	0.87932	D	0	-2.2288	8.0528	0.30587	0.1103:0.0:0.8897:0.0	.	113;113	B4DYP8;Q9BQE6-2	.;.	L	113;139;113	.	ENSP00000346600:P113L	P	-	2	0	C11orf48	62191771	0.337000	0.24766	0.535000	0.28026	0.029000	0.11900	1.748000	0.38308	1.165000	0.42670	0.551000	0.68910	CCT		0.478	C11orf48-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000395233.1	NM_024099		6	241	0	0	0	1	0	6	241				
FBLL1	345630	broad.mit.edu	37	5	167957190	167957190	+	Silent	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr5:167957190G>A	ENST00000338333.4	+	1	1070	c.681G>A	c.(679-681)gaG>gaA	p.E227E				A6NHQ2	FBLL1_HUMAN	fibrillarin-like 1	227					rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)										CGGTCCTGGAGGACGCGCGGC	0.672																																						ENST00000338333.4																			0											c.(679-681)gaG>gaA									42.0	39.0	40.0					5																	167957190		876	1991	2867	SO:0001819	synonymous_variant	345630							g.chr5:167957190G>A			5q35.1	2013-03-06			ENSG00000188573	ENSG00000188573			35458	other	unknown							Standard	NR_024356		Approved	LOC345630	uc011dep.2	A6NHQ2	OTTHUMG00000157012	ENST00000338333.4:c.681G>A	5.37:g.167957190G>A							p.E227E							1	1070	+									Silent	SNP	ENST00000338333.4	37	c.681G>A																																																																																					0.672	FBLL1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000347089.3	NR_024356		23	16	0	0	0	1	0	23	16				
DUSP1	1843	broad.mit.edu	37	5	172197266	172197266	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr5:172197266G>T	ENST00000239223.3	-	2	653	c.411C>A	c.(409-411)agC>agA	p.S137R	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	137	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cellular response to hormone stimulus (GO:0032870)|endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of meiotic cell cycle (GO:0051447)|peptidyl-threonine dephosphorylation (GO:0035970)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|protein dephosphorylation (GO:0006470)|regulation of apoptotic process (GO:0042981)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to light stimulus (GO:0009416)|response to oxidative stress (GO:0006979)|response to retinoic acid (GO:0032526)|response to testosterone (GO:0033574)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		TCGACTGTTTGCTGCACAGCT	0.567																																						ENST00000239223.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(409-411)agC>agA		dual specificity phosphatase 1							51.0	49.0	50.0					5																	172197266		2203	4300	6503	SO:0001583	missense	1843				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr5:172197266G>T	X68277	CCDS4380.1	5q35.1	2011-06-09			ENSG00000120129	ENSG00000120129		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3064	protein-coding gene	gene with protein product		600714		PTPN10		1406996, 7806236	Standard	NM_004417		Approved	HVH1, CL100, MKP-1	uc003mbv.2	P28562	OTTHUMG00000130523	ENST00000239223.3:c.411C>A	5.37:g.172197266G>T	ENSP00000239223:p.Ser137Arg					RP11-779O18.3_ENST00000523005.1_RNA	p.S137R	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)	2	653	-	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	137			Rhodanese.		D3DQL9|Q2V508	Missense_Mutation	SNP	ENST00000239223.3	37	c.411C>A	CCDS4380.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833002	0.50951	.	.	ENSG00000120129	ENST00000239223;ENST00000457103;ENST00000434080	T	0.44083	0.93	4.76	4.76	0.60689	Rhodanese-like (3);	0.045960	0.85682	D	0.000000	T	0.38374	0.1038	L	0.57536	1.79	0.39231	D	0.963671	B;P	0.36683	0.286;0.565	B;B	0.35353	0.125;0.201	T	0.29822	-0.9999	10	0.24483	T	0.36	.	13.4602	0.61223	0.0:0.0:0.843:0.157	.	137;94	P28562;B4DNT2	DUS1_HUMAN;.	R	137;110;72	ENSP00000239223:S137R	ENSP00000239223:S137R	S	-	3	2	DUSP1	172129872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.798000	0.55522	2.473000	0.83533	0.561000	0.74099	AGC		0.567	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252943.3	NM_004417		4	41	1	0	0.00024832	1	0.000261389	4	41				
AADAC	13	broad.mit.edu	37	3	151535308	151535308	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr3:151535308G>A	ENST00000232892.7	+	2	419	c.293G>A	c.(292-294)aGa>aAa	p.R98K	RP11-454C18.2_ENST00000475855.1_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.R98K|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	98					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GTGCCAAAGAGAAAGTCTGAA	0.448																																					Ovarian(30;839 841 2699 32801 46334)	ENST00000232892.6																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19						c.(292-294)aGa>aAa		arylacetamide deacetylase							156.0	132.0	140.0					3																	151535308		2203	4300	6503	SO:0001583	missense	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151535308G>A	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.293G>A	3.37:g.151535308G>A	ENSP00000232892:p.Arg98Lys					AADAC_ENST00000488869.1_Missense_Mutation_p.R98K|RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	p.R98K	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		2	419	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	98					A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	c.293G>A	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	G	9.584	1.124465	0.20959	.	.	ENSG00000114771	ENST00000232892;ENST00000488869	T;T	0.57752	0.38;2.84	4.96	2.79	0.32731	.	0.761210	0.12392	N	0.472881	T	0.42810	0.1219	L	0.49350	1.555	0.09310	N	1	B	0.15141	0.012	B	0.16289	0.015	T	0.28396	-1.0045	10	0.16896	T	0.51	-16.5302	8.5317	0.33337	0.367:0.0:0.633:0.0	.	98	P22760	AAAD_HUMAN	K	98	ENSP00000232892:R98K;ENSP00000419620:R98K	ENSP00000232892:R98K	R	+	2	0	AADAC	153017998	0.000000	0.05858	0.004000	0.12327	0.970000	0.65996	-0.012000	0.12699	1.081000	0.41110	0.591000	0.81541	AGA		0.448	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		40	47	0	0	0	1	0	40	47				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	5	90	0	0	0	1	0	5	90				
NFASC	23114	broad.mit.edu	37	1	204948630	204948630	+	Missense_Mutation	SNP	G	G	A	rs374212129		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:204948630G>A	ENST00000401399.1	+	18	2318	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K	NFASC_ENST00000513543.1_Missense_Mutation_p.E703K|NFASC_ENST00000338515.6_Missense_Mutation_p.E707K|NFASC_ENST00000360049.4_Missense_Mutation_p.E703K|NFASC_ENST00000339876.6_Missense_Mutation_p.E707K|NFASC_ENST00000367169.4_Missense_Mutation_p.E707K|NFASC_ENST00000367171.4_Missense_Mutation_p.E692K|NFASC_ENST00000404076.1_Missense_Mutation_p.E686K|NFASC_ENST00000338586.6_Missense_Mutation_p.E707K|NFASC_ENST00000539706.1_Missense_Mutation_p.E703K|NFASC_ENST00000404907.1_Missense_Mutation_p.E703K|NFASC_ENST00000367172.4_Missense_Mutation_p.E707K|NFASC_ENST00000367170.4_Missense_Mutation_p.E707K			O94856	NFASC_HUMAN	neurofascin	707	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCCATCAACGAGGTTGGGAG	0.622																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(2119-2121)Gag>Aag		neurofascin		G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	99.0	101.0	101.0		2119,2152,2107,2107	5.2	1.0	1		101	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	NFASC	NM_001005388.2,NM_001160331.1,NM_001160332.1,NM_015090.3	56,56,56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	707/1241,718/1190,703/1175,703/1170	204948630	1,13005	2203	4300	6503	SO:0001583	missense	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204948630G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2119G>A	1.37:g.204948630G>A	ENSP00000385637:p.Glu707Lys					NFASC_ENST00000367169.4_Missense_Mutation_p.E707K|NFASC_ENST00000513543.1_Missense_Mutation_p.E703K|NFASC_ENST00000404076.1_Missense_Mutation_p.E686K|NFASC_ENST00000339876.6_Missense_Mutation_p.E707K|NFASC_ENST00000367171.4_Missense_Mutation_p.E692K|NFASC_ENST00000338515.6_Missense_Mutation_p.E707K|NFASC_ENST00000367170.4_Missense_Mutation_p.E707K|NFASC_ENST00000338586.6_Missense_Mutation_p.E707K|NFASC_ENST00000404907.1_Missense_Mutation_p.E703K|NFASC_ENST00000360049.4_Missense_Mutation_p.E703K|NFASC_ENST00000539706.1_Missense_Mutation_p.E703K|NFASC_ENST00000401399.1_Missense_Mutation_p.E707K	p.E707K			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		19	2447	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		707			Fibronectin type-III 1.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	c.2119G>A	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526429	0.44969	0.0	1.16E-4	ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44	5.24	5.24	0.73138	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.245867	0.28317	N	0.015788	T	0.31167	0.0788	N	0.20610	0.595	0.36150	D	0.847409	B;B;B;B;P;B	0.41910	0.419;0.119;0.148;0.252;0.764;0.293	B;B;B;B;B;B	0.27076	0.057;0.027;0.031;0.021;0.058;0.076	T	0.40776	-0.9545	10	0.07644	T	0.81	.	18.4137	0.90561	0.0:0.0:1.0:0.0	.	707;718;703;692;707;703	O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3	NFASC_HUMAN;.;.;.;.;.	K	707;692;707;707;707;707;718;703;703;707;686;707;703;703;694	ENSP00000356140:E707K;ENSP00000356139:E692K;ENSP00000356138:E707K;ENSP00000342128:E707K;ENSP00000344786:E707K;ENSP00000343509:E707K;ENSP00000438614:E703K;ENSP00000353154:E703K;ENSP00000356137:E707K;ENSP00000385676:E686K;ENSP00000385637:E707K;ENSP00000384061:E703K;ENSP00000425908:E703K;ENSP00000415031:E694K	ENSP00000295776:E718K	E	+	1	0	NFASC	203215253	1.000000	0.71417	0.995000	0.50966	0.611000	0.37282	4.084000	0.57650	2.451000	0.82905	0.655000	0.94253	GAG		0.622	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		32	234	0	0	0	1	0	32	234				
TMEM132D	121256	broad.mit.edu	37	12	129563220	129563220	+	Silent	SNP	C	C	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:129563220C>A	ENST00000422113.2	-	8	2300	c.1974G>T	c.(1972-1974)gtG>gtT	p.V658V	TMEM132D_ENST00000389441.4_Silent_p.V196V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	658					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCTCGTCCAGCACAGTGATGG	0.567																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(1972-1974)gtG>gtT		transmembrane protein 132D							156.0	131.0	139.0					12																	129563220		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129563220C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1974G>T	12.37:g.129563220C>A						TMEM132D_ENST00000389441.4_Silent_p.V196V	p.V658V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	8	2300	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	658					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.1974G>T	CCDS9266.1																																																																																				0.567	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		13	115	1	0	7.93312e-07	1	8.69383e-07	13	115				
MUC2	4583	broad.mit.edu	37	11	1093791	1093791	+	Silent	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:1093791G>A	ENST00000441003.2	+	30	5637	c.5610G>A	c.(5608-5610)acG>acA	p.T1870T	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.T158T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4232					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCCTCTCACGGAGTCAACCA	0.622																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(5608-5610)acG>acA		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						215.0	256.0	242.0					11																	1093791		2165	4260	6425	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1093791G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5610G>A	11.37:g.1093791G>A						MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.T158T	p.T1870T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	30	5637	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1884					Q14878	Silent	SNP	ENST00000441003.2	37	c.5610G>A																																																																																					0.622	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		6	397	0	0	0	1	0	6	397				
GPR32	2854	broad.mit.edu	37	19	51274037	51274037	+	Silent	SNP	C	C	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:51274037C>A	ENST00000270590.4	+	1	317	c.180C>A	c.(178-180)ggC>ggA	p.G60G		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	60					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GAGTGCTGGGCAATGGGCTGG	0.587																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(178-180)ggC>ggA		G protein-coupled receptor 32							223.0	172.0	189.0					19																	51274037		2203	4300	6503	SO:0001819	synonymous_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274037C>A	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.180C>A	19.37:g.51274037C>A							p.G60G	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	317	+		all_neural(266;0.131)	60					Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	37	c.180C>A	CCDS12801.1																																																																																				0.587	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			12	53	1	0	9.31168e-06	1	1.00667e-05	12	53				
BAGE2	85319	broad.mit.edu	37	21	11038739	11038739	+	RNA	SNP	G	G	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr21:11038739G>T	ENST00000470054.1	-	0	1464							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTTTGGACCGAGGTCTACCA	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11038739G>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11038739G>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1464	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		12	163	1	0	0.00244969	1	0.00251251	12	163				
DEPDC1B	55789	broad.mit.edu	37	5	59943361	59943361	+	Splice_Site	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr5:59943361C>T	ENST00000265036.5	-	3	382		c.e3-1		DEPDC1B_ENST00000545085.1_Splice_Site|DEPDC1B_ENST00000453022.2_Splice_Site	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				AGGAGGAAATCTAAAACCCAA	0.378																																						ENST00000265036.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17						c.e3-1		DEP domain containing 1B							81.0	83.0	82.0					5																	59943361		2203	4300	6503	SO:0001630	splice_region_variant	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59943361C>T	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.315-1G>A	5.37:g.59943361C>T						DEPDC1B_ENST00000545085.1_Splice_Site|DEPDC1B_ENST00000453022.2_Splice_Site		NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN			3	382	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)						A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Splice_Site	SNP	ENST00000265036.5	37		CCDS3977.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093193	0.76756	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DEPDC1B	59979118	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.579000	0.67457	2.820000	0.97059	0.650000	0.86243	.		0.378	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369	Intron	17	53	0	0	0	1	0	17	53				
NES	10763	broad.mit.edu	37	1	156642568	156642568	+	Missense_Mutation	SNP	C	C	A	rs140134053	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:156642568C>A	ENST00000368223.3	-	4	1544	c.1412G>T	c.(1411-1413)aGc>aTc	p.S471I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	471	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGGTCAGGGCTGAGGGGTGG	0.622													C|||	2	0.000399361	0.0008	0.0	5008	,	,		17740	0.0		0.001	False		,,,				2504	0.0					ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(1411-1413)aGc>aTc		nestin		C	ILE/SER	0,4406		0,0,2203	77.0	77.0	77.0		1412	1.5	0.9	1	dbSNP_134	77	3,8597	3.0+/-9.4	0,3,4297	yes	missense	NES	NM_006617.1	142	0,3,6500	AA,AC,CC		0.0349,0.0,0.0231	probably-damaging	471/1622	156642568	3,13003	2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642568C>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1412G>T	1.37:g.156642568C>A	ENSP00000357206:p.Ser471Ile						p.S471I	NM_006617.1	NP_006608.1	P48681	NEST_HUMAN			4	1544	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		471			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.1412G>T	CCDS1151.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	0	0.0	1	0.0013192612137203166	C	13.03	2.116490	0.37339	0.0	3.49E-4	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.87412	-2.25	4.64	1.46	0.22682	.	0.404992	0.18324	N	0.144701	T	0.78020	0.4218	L	0.60455	1.87	0.09310	N	1	P	0.50943	0.94	P	0.50440	0.641	T	0.71397	-0.4605	10	0.87932	D	0	.	3.7977	0.08746	0.0:0.4633:0.1813:0.3554	.	471	P48681	NEST_HUMAN	I	471	ENSP00000357206:S471I	ENSP00000255024:S471I	S	-	2	0	NES	154909192	0.804000	0.28969	0.950000	0.38849	0.315000	0.28087	0.102000	0.15272	0.111000	0.17947	0.467000	0.42956	AGC		0.622	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		15	169	1	0	2.61681e-11	1	3.03399e-11	15	169				
SCN7A	6332	broad.mit.edu	37	2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr2:167263066C>T	ENST00000409855.1	-	25	4199	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1358					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTTTCCAAGACGCAGCATGTG	0.468																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(4072-4074)cGt>cAt		sodium channel, voltage-gated, type VII, alpha subunit							119.0	113.0	115.0					2																	167263066		1981	4154	6135	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167263066C>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.4073G>A	2.37:g.167263066C>T	ENSP00000386796:p.Arg1358His						p.R1358H	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			25	4199	-			1358						Missense_Mutation	SNP	ENST00000409855.1	37	c.4073G>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579051	0.46006	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.98455	-4.94	5.35	2.62	0.31277	Ion transport (1);	0.338199	0.28821	N	0.014040	D	0.96059	0.8716	L	0.60957	1.885	0.41471	D	0.988101	B	0.24043	0.096	B	0.19946	0.027	D	0.94235	0.7480	10	0.62326	D	0.03	.	8.9932	0.36037	0.0:0.7529:0.0:0.2471	.	1358	Q01118	SCN7A_HUMAN	H	1358	ENSP00000386796:R1358H	ENSP00000259060:R1358H	R	-	2	0	SCN7A	166971312	0.999000	0.42202	0.992000	0.48379	0.827000	0.46813	3.871000	0.56077	0.958000	0.37956	0.655000	0.94253	CGT		0.468	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			37	77	0	0	0	1	0	37	77				
COL4A4	1286	broad.mit.edu	37	2	227924263	227924263	+	Silent	SNP	G	G	A	rs374510402	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr2:227924263G>A	ENST00000396625.3	-	28	2448	c.2241C>T	c.(2239-2241)ccC>ccT	p.P747P	COL4A4_ENST00000329662.7_Silent_p.P747P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	747	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P747P(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGTGAGCCGGGAGGGCCTG	0.552													G|||	3	0.000599042	0.0015	0.0	5008	,	,		15345	0.0		0.0	False		,,,				2504	0.001					ENST00000396625.3																			1	Substitution - coding silent(1)	p.P747P(1)	large_intestine(1)	breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(2239-2241)ccC>ccT		collagen, type IV, alpha 4		G		1,3663		0,1,1831	65.0	70.0	68.0		2241	-11.8	0.0	2		68	0,8152		0,0,4076	no	coding-synonymous	COL4A4	NM_000092.4		0,1,5907	AA,AG,GG		0.0,0.0273,0.0085		747/1691	227924263	1,11815	1832	4076	5908	SO:0001819	synonymous_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227924263G>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2241C>T	2.37:g.227924263G>A						COL4A4_ENST00000329662.7_Silent_p.P747P	p.P747P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	28	2448	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	747			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Silent	SNP	ENST00000396625.3	37	c.2241C>T	CCDS42828.1																																																																																				0.552	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		42	96	0	0	0	1	0	42	96				
NDUFAF6	137682	broad.mit.edu	37	8	96053846	96053846	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr8:96053846G>A	ENST00000396124.4	+	4	492	c.469G>A	c.(469-471)Gat>Aat	p.D157N	NDUFAF6_ENST00000396113.1_Missense_Mutation_p.D65N|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.D105N|NDUFAF6_ENST00000286687.4_Missense_Mutation_p.D5N|NDUFAF6_ENST00000396111.2_Missense_Mutation_p.D65N	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	157					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										GAAAATCGTCGATGAAAGAGT	0.284																																						ENST00000396113.1																			0											c.(193-195)Gat>Aat		NADH dehydrogenase (ubiquinone) complex I, assembly factor 6							130.0	123.0	125.0					8																	96053846		1806	4067	5873	SO:0001583	missense	137682				biosynthetic process	mitochondrion	transferase activity	g.chr8:96053846G>A	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"""Mitochondrial respiratory chain complex assembly factors"""	28625	protein-coding gene	gene with protein product		612392	"""chromosome 8 open reading frame 38"""	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.469G>A	8.37:g.96053846G>A	ENSP00000379430:p.Asp157Asn					NDUFAF6_ENST00000396124.4_Missense_Mutation_p.D157N|NDUFAF6_ENST00000396111.2_Missense_Mutation_p.D65N|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.D105N|NDUFAF6_ENST00000286687.4_Missense_Mutation_p.D5N	p.D65N			Q330K2	CH038_HUMAN			10	1243	+			157					A8MT28|A8MWF0|B4DQ45|Q8N6U6	Missense_Mutation	SNP	ENST00000396124.4	37	c.193G>A	CCDS6266.2	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938797	0.34189	.	.	ENSG00000156170	ENST00000523378;ENST00000396113;ENST00000396111;ENST00000519136;ENST00000542894;ENST00000396124;ENST00000286687;ENST00000519804	T;T;T;T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79;-0.79	4.92	4.92	0.64577	Terpenoid synthase (2);	1.748480	0.02665	N	0.107939	T	0.73418	0.3584	L	0.33485	1.01	0.43719	D	0.996191	P;P;P;P	0.45396	0.802;0.817;0.857;0.49	B;B;B;B	0.43155	0.153;0.41;0.273;0.227	T	0.61232	-0.7104	10	0.27785	T	0.31	-21.9241	17.2803	0.87126	0.0:0.0:1.0:0.0	.	5;157;105;125	B4DW83;Q330K2;Q330K2-2;B4DQ45	.;CH038_HUMAN;.;.	N	65;65;65;46;105;157;5;46	ENSP00000428034:D65N;ENSP00000379419:D65N;ENSP00000379417:D65N;ENSP00000429585:D46N;ENSP00000444515:D105N;ENSP00000379430:D157N;ENSP00000286687:D5N;ENSP00000430230:D46N	ENSP00000286687:D5N	D	+	1	0	C8orf38	96123022	1.000000	0.71417	0.998000	0.56505	0.374000	0.29953	4.967000	0.63722	2.443000	0.82685	0.467000	0.42956	GAT		0.284	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2	NM_152416		12	85	0	0	0	1	0	12	85				
MMP1	4312	broad.mit.edu	37	11	102663365	102663365	+	Missense_Mutation	SNP	G	G	A	rs200931880		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:102663365G>A	ENST00000315274.6	-	7	1071	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	335					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.A335D(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	ATCTCTGTCGGCAAATTCGTA	0.393																																						ENST00000315274.6																			1	Substitution - Missense(1)	p.A335D(1)	lung(1)	breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(1003-1005)gCc>gTc		matrix metallopeptidase 1 (interstitial collagenase)							125.0	128.0	127.0					11																	102663365		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102663365G>A	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.1004C>T	11.37:g.102663365G>A	ENSP00000322788:p.Ala335Val					WTAPP1_ENST00000525739.2_RNA	p.A335V	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	7	1071	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	335			Hemopexin-like 2.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.1004C>T	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	g	8.093	0.775021	0.16051	.	.	ENSG00000196611	ENST00000315274	T	0.02498	4.27	6.05	3.09	0.35607	Hemopexin/matrixin (2);	1.061290	0.07265	N	0.868137	T	0.02418	0.0074	N	0.21097	0.63	0.09310	N	1	B	0.12630	0.006	B	0.19148	0.024	T	0.50955	-0.8766	10	0.16420	T	0.52	.	5.29	0.15721	0.0708:0.1296:0.5473:0.2524	.	335	P03956	MMP1_HUMAN	V	335	ENSP00000322788:A335V	ENSP00000322788:A335V	A	-	2	0	MMP1	102168575	0.000000	0.05858	0.000000	0.03702	0.611000	0.37282	-0.122000	0.10627	0.402000	0.25451	0.650000	0.86243	GCC		0.393	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		10	1945	0	0	0	1	0	10	1945				
SPATA31A6	389730	broad.mit.edu	37	9	43627187	43627187	+	Silent	SNP	C	C	T	rs561244020	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr9:43627187C>T	ENST00000332857.6	-	4	1528	c.1500G>A	c.(1498-1500)caG>caA	p.Q500Q	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	500					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.Q500Q(1)									GGAAAGAAGACTGAAGATGGG	0.547													T|||	3	0.000599042	0.0	0.0	5008	,	,		14137	0.0		0.002	False		,,,				2504	0.001					ENST00000332857.6																			1	Substitution - coding silent(1)	p.Q500Q(1)	prostate(1)								c.(1498-1500)caG>caA		SPATA31 subfamily A, member 6							63.0	68.0	66.0					9																	43627187		612	1534	2146	SO:0001819	synonymous_variant	389730							g.chr9:43627187C>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1500G>A	9.37:g.43627187C>T							p.Q500Q	NM_001145196.1	NP_001138668.1					4	1528	-									Silent	SNP	ENST00000332857.6	37	c.1500G>A	CCDS47973.1																																																																																				0.547	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		8	649	0	0	0	1	0	8	649				
FCGBP	8857	broad.mit.edu	37	19	40384116	40384116	+	Missense_Mutation	SNP	G	G	A	rs144364268		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:40384116G>A	ENST00000221347.6	-	21	9501	c.9494C>T	c.(9493-9495)cCg>cTg	p.P3165L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3165	TIL 7.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACAGCTGGCCGGGCAGGGTGG	0.607																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(9493-9495)cCg>cTg		Fc fragment of IgG binding protein		G	LEU/PRO	0,4404		0,0,2202	158.0	172.0	167.0		9494	2.4	1.0	19	dbSNP_134	167	1,8595		0,1,4297	no	missense	FCGBP	NM_003890.2	98	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	3165/5406	40384116	1,12999	2202	4298	6500	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40384116G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.9494C>T	19.37:g.40384116G>A	ENSP00000221347:p.Pro3165Leu						p.P3165L	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		21	9501	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		3165			TIL 7.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.9494C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450780	0.43531	0.0	1.16E-4	ENSG00000090920	ENST00000221347	T	0.77489	-1.1	3.44	2.36	0.29203	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	D	0.87939	0.6304	M	0.92923	3.36	0.40791	D	0.983258	D	0.89917	1.0	D	0.91635	0.999	D	0.87203	0.2242	9	0.10902	T	0.67	.	11.6474	0.51269	0.0:0.1825:0.8175:0.0	.	3165	Q9Y6R7	FCGBP_HUMAN	L	3165	ENSP00000221347:P3165L	ENSP00000221347:P3165L	P	-	2	0	FCGBP	45075956	1.000000	0.71417	0.995000	0.50966	0.479000	0.33129	3.402000	0.52608	0.535000	0.28714	-0.723000	0.03601	CCG		0.607	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		35	450	0	0	0	1	0	35	450				
USH2A	7399	broad.mit.edu	37	1	216243458	216243458	+	Missense_Mutation	SNP	T	T	G			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:216243458T>G	ENST00000307340.3	-	30	6420	c.6034A>C	c.(6034-6036)Aca>Cca	p.T2012P	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.T2012P|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2012	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGTTGCTTGTATTGACAAAT	0.398										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(6034-6036)Aca>Cca		Usher syndrome 2A (autosomal recessive, mild)							102.0	98.0	99.0					1																	216243458		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216243458T>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.6034A>C	1.37:g.216243458T>G	ENSP00000305941:p.Thr2012Pro	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.T2012P	p.T2012P			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	30	6420	-			2012			Fibronectin type-III 6.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6034A>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.602132	0.66445	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53857	0.6;0.6	5.41	1.72	0.24424	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.157867	0.29087	U	0.013184	T	0.59609	0.2206	M	0.78049	2.395	0.09310	N	1	P	0.51933	0.949	P	0.56514	0.8	T	0.50215	-0.8854	10	0.27082	T	0.32	.	5.0393	0.14451	0.1236:0.276:0.0:0.6004	.	2012	O75445	USH2A_HUMAN	P	2012	ENSP00000305941:T2012P;ENSP00000355910:T2012P	ENSP00000305941:T2012P	T	-	1	0	USH2A	214310081	0.003000	0.15002	0.003000	0.11579	0.626000	0.37791	0.094000	0.15107	0.033000	0.15463	0.455000	0.32223	ACA		0.398	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		16	47	0	0	0	1	0	16	47				
VAV2	7410	broad.mit.edu	37	9	136671256	136671256	+	Silent	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr9:136671256G>A	ENST00000371850.3	-	9	814	c.783C>T	c.(781-783)tcC>tcT	p.S261S	VAV2_ENST00000371851.1_Silent_p.S256S|VAV2_ENST00000406606.3_Silent_p.S256S	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	261	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CCACCATCACGGACACGTCGA	0.632																																						ENST00000371851.1																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(766-768)tcC>tcT		vav 2 guanine nucleotide exchange factor							78.0	54.0	62.0					9																	136671256		2202	4300	6502	SO:0001819	synonymous_variant	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136671256G>A		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.783C>T	9.37:g.136671256G>A						VAV2_ENST00000371850.3_Silent_p.S261S|VAV2_ENST00000406606.3_Silent_p.S256S	p.S256S			P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	8	1093	-			261			DH.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	ENST00000371850.3	37	c.768C>T	CCDS48053.1																																																																																				0.632	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			12	19	0	0	0	1	0	12	19				
C14orf39	317761	broad.mit.edu	37	14	60921858	60921858	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr14:60921858C>A	ENST00000321731.3	-	16	1523	c.1364G>T	c.(1363-1365)aGa>aTa	p.R455I		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	455					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATTTCTATTTCTGTTACTGAG	0.308																																						ENST00000321731.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1363-1365)aGa>aTa		chromosome 14 open reading frame 39							47.0	52.0	51.0					14																	60921858		2200	4288	6488	SO:0001583	missense	317761							g.chr14:60921858C>A	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1364G>T	14.37:g.60921858C>A	ENSP00000324920:p.Arg455Ile						p.R455I	NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	16	1523	-			455					Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	c.1364G>T	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823478	0.71143	.	.	ENSG00000179008	ENST00000321731	T	0.27256	1.68	5.84	4.95	0.65309	.	0.000000	0.46758	D	0.000268	T	0.24967	0.0606	L	0.51422	1.61	0.42268	D	0.992044	B	0.13145	0.007	B	0.19148	0.024	T	0.04153	-1.0973	9	.	.	.	-18.3896	13.6284	0.62181	0.1552:0.8448:0.0:0.0	.	455	Q8N1H7	S6OS1_HUMAN	I	455	ENSP00000324920:R455I	.	R	-	2	0	C14orf39	59991611	0.996000	0.38824	1.000000	0.80357	0.985000	0.73830	0.900000	0.28431	1.493000	0.48517	-0.219000	0.12488	AGA		0.308	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		9	45	1	0	5.4927e-09	1	6.103e-09	9	45				
PCDHGA3	56112	broad.mit.edu	37	5	140723860	140723860	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr5:140723860C>T	ENST00000253812.6	+	1	260	c.260C>T	c.(259-261)gCg>gTg	p.A87V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	87	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTCACCGCGGAGAGGATA	0.537																																						ENST00000253812.6																			0				breast(1)	1						c.(259-261)gCg>gTg									46.0	54.0	51.0					5																	140723860		2163	4289	6452	SO:0001583	missense	56112							g.chr5:140723860C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.260C>T	5.37:g.140723860C>T	ENSP00000253812:p.Ala87Val					PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.A87V	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	260	+								Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.260C>T	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	11.47	1.649099	0.29336	.	.	ENSG00000254245	ENST00000253812	T	0.28454	1.61	5.65	1.59	0.23543	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.263635	0.19097	U	0.122783	T	0.32315	0.0825	M	0.84948	2.725	0.09310	N	1	P;P	0.41265	0.653;0.744	B;B	0.37387	0.105;0.248	T	0.29549	-1.0008	10	0.56958	D	0.05	.	5.5349	0.17005	0.3462:0.4724:0.1136:0.0677	.	87;87	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	V	87	ENSP00000253812:A87V	ENSP00000253812:A87V	A	+	2	0	PCDHGA3	140704044	0.000000	0.05858	0.211000	0.23655	0.791000	0.44710	-1.273000	0.02823	0.817000	0.34445	0.655000	0.94253	GCG		0.537	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		45	62	0	0	0	1	0	45	62				
NAGPA	51172	broad.mit.edu	37	16	5078047	5078047	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr16:5078047C>T	ENST00000312251.3	-	6	1079	c.1060G>A	c.(1060-1062)Ggt>Agt	p.G354S	NAGPA_ENST00000381955.3_Missense_Mutation_p.G354S|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	354					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CAGCCGGGACCCCGCCAGAAG	0.687																																						ENST00000312251.3																			0				endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12						c.(1060-1062)Ggt>Agt		N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	N-Acetyl-D-glucosamine(DB00141)						30.0	30.0	30.0					16																	5078047		2197	4300	6497	SO:0001583	missense	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5078047C>T	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.1060G>A	16.37:g.5078047C>T	ENSP00000310998:p.Gly354Ser					NAGPA_ENST00000381955.3_Missense_Mutation_p.G354S|RP11-165E7.1_ENST00000588778.1_RNA	p.G354S	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN			6	1079	-			354					B2RAS1|Q96EJ8	Missense_Mutation	SNP	ENST00000312251.3	37	c.1060G>A	CCDS10527.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033606	0.54896	.	.	ENSG00000103174	ENST00000312251;ENST00000381955	T;T	0.70516	-0.49;2.54	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	D	0.86785	0.6016	M	0.91872	3.25	0.42985	D	0.994473	D	0.89917	1.0	D	0.74023	0.982	D	0.90825	0.4712	10	0.87932	D	0	-17.2277	16.1622	0.81730	0.0:1.0:0.0:0.0	.	354	Q9UK23	NAGPA_HUMAN	S	354	ENSP00000310998:G354S;ENSP00000371381:G354S	ENSP00000310998:G354S	G	-	1	0	NAGPA	5018048	1.000000	0.71417	0.768000	0.31515	0.014000	0.08584	5.575000	0.67430	1.789000	0.52484	0.561000	0.74099	GGT		0.687	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1	NM_016256		5	37	0	0	0	1	0	5	37				
DAK	26007	broad.mit.edu	37	11	61106814	61106814	+	Silent	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:61106814G>A	ENST00000394900.3	+	5	622	c.393G>A	c.(391-393)ccG>ccA	p.P131P		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	131	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AAGGCATCCCGGTGGAGATGG	0.647																																						ENST00000394900.3																			0				NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(391-393)ccG>ccA		dihydroxyacetone kinase 2 homolog (S. cerevisiae)							58.0	63.0	61.0					11																	61106814		2202	4299	6501	SO:0001819	synonymous_variant	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61106814G>A		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.393G>A	11.37:g.61106814G>A							p.P131P	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			5	622	+			131			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Silent	SNP	ENST00000394900.3	37	c.393G>A	CCDS8003.1																																																																																				0.647	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		24	116	0	0	0	1	0	24	116				
CATSPER1	117144	broad.mit.edu	37	11	65793355	65793355	+	Missense_Mutation	SNP	C	C	T	rs543744984		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:65793355C>T	ENST00000312106.5	-	1	633	c.496G>A	c.(496-498)Gtg>Atg	p.V166M		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	166	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.V166M(2)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGGTGGGGCACGCCAGAGGAA	0.582																																						ENST00000312106.5																			2	Substitution - Missense(2)	p.V166M(2)	ovary(1)|endometrium(1)	breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(496-498)Gtg>Atg		cation channel, sperm associated 1							57.0	53.0	54.0					11																	65793355		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65793355C>T	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.496G>A	11.37:g.65793355C>T	ENSP00000309052:p.Val166Met						p.V166M	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			1	633	-			166			His-rich.		Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.496G>A	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	C	4.959	0.178073	0.09443	.	.	ENSG00000175294	ENST00000312106	D	0.96940	-4.18	3.43	1.5	0.22942	.	.	.	.	.	D	0.84556	0.5498	N	0.03115	-0.41	0.09310	N	1	D	0.56287	0.975	B	0.32090	0.14	T	0.79339	-0.1844	9	0.22706	T	0.39	2.3962	8.0048	0.30319	0.0:0.7774:0.0:0.2226	.	166	Q8NEC5	CTSR1_HUMAN	M	166	ENSP00000309052:V166M	ENSP00000309052:V166M	V	-	1	0	CATSPER1	65549931	0.996000	0.38824	0.000000	0.03702	0.049000	0.14656	0.009000	0.13219	0.228000	0.21019	-0.657000	0.03884	GTG		0.582	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		30	61	0	0	0	1	0	30	61				
CC2D1A	54862	broad.mit.edu	37	19	14031616	14031616	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:14031616G>A	ENST00000318003.7	+	14	1763	c.1522G>A	c.(1522-1524)Gca>Aca	p.A508T	CC2D1A_ENST00000589606.1_Missense_Mutation_p.A508T	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	508					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCTGCAGGCCGCACTGCGAGC	0.647																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(1522-1524)Gca>Aca		coiled-coil and C2 domain containing 1A							51.0	58.0	56.0					19																	14031616		2003	4166	6169	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14031616G>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1522G>A	19.37:g.14031616G>A	ENSP00000313601:p.Ala508Thr					CC2D1A_ENST00000589606.1_Missense_Mutation_p.A508T	p.A508T	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		14	1763	+			508					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.1522G>A	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036900	0.75617	.	.	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000397486	T	0.26957	1.7	5.48	5.48	0.80851	Domain of unknown function DM14 (1);	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	M	0.86864	2.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.65751	-0.6092	10	0.87932	D	0	-14.3323	18.1107	0.89534	0.0:0.0:1.0:0.0	.	130;508;508	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	T	508;131;262	ENSP00000313601:A508T	ENSP00000254346:A131T	A	+	1	0	CC2D1A	13892616	1.000000	0.71417	0.123000	0.21794	0.116000	0.19942	8.822000	0.92013	2.571000	0.86741	0.555000	0.69702	GCA		0.647	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		10	66	0	0	0	1	0	10	66				
ZIK1	284307	broad.mit.edu	37	19	58101385	58101385	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:58101385G>A	ENST00000597850.1	+	4	421	c.206G>A	c.(205-207)gGc>gAc	p.G69D	ZIK1_ENST00000536878.2_Missense_Mutation_p.G56D|ZIK1_ENST00000307468.4_Missense_Mutation_p.A14T|ZIK1_ENST00000599456.1_Missense_Mutation_p.G14D	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCAGGTTGTGGCCATGGAACA	0.453																																						ENST00000597850.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(205-207)gGc>gAc		zinc finger protein interacting with K protein 1							73.0	65.0	67.0					19																	58101385		2203	4300	6503	SO:0001583	missense	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58101385G>A	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.206G>A	19.37:g.58101385G>A	ENSP00000472867:p.Gly69Asp					ZIK1_ENST00000599456.1_Missense_Mutation_p.G14D|ZIK1_ENST00000307468.4_Missense_Mutation_p.A14T|ZIK1_ENST00000536878.2_Missense_Mutation_p.G56D	p.G69D	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	4	421	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	69			KRAB.		O43339|Q3SY51|Q3SY53	Missense_Mutation	SNP	ENST00000597850.1	37	c.206G>A	CCDS33135.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839251	0.32513	.	.	ENSG00000171649	ENST00000536878;ENST00000356724;ENST00000307468	T	0.00784	5.7	2.97	-1.28	0.09318	Krueppel-associated box (3);	.	.	.	.	T	0.00440	0.0014	N	0.04355	-0.22	0.09310	N	1	B;P	0.41947	0.444;0.766	B;B	0.37198	0.141;0.243	T	0.51663	-0.8677	9	0.38643	T	0.18	.	5.9492	0.19235	0.4982:0.0:0.5018:0.0	.	56;69	F5H435;Q3SY52	.;ZIK1_HUMAN	D	56;50;69	ENSP00000438487:G56D	ENSP00000303820:G69D	G	+	2	0	ZIK1	62793197	0.000000	0.05858	0.000000	0.03702	0.615000	0.37417	-0.394000	0.07296	-0.201000	0.10284	0.555000	0.69702	GGC		0.453	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		8	33	0	0	0	1	0	8	33				
ADAMTSL3	57188	broad.mit.edu	37	15	84694059	84694059	+	Silent	SNP	G	G	T	rs376309691		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr15:84694059G>T	ENST00000286744.5	+	27	4751	c.4527G>T	c.(4525-4527)acG>acT	p.T1509T	ADAMTSL3_ENST00000567476.1_Silent_p.T1509T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1509	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCAGGTGACGTGCAAGCGGA	0.507																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(4525-4527)acG>acT		ADAMTS-like 3							172.0	141.0	152.0					15																	84694059		2203	4299	6502	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84694059G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4527G>T	15.37:g.84694059G>T						ADAMTSL3_ENST00000567476.1_Silent_p.T1509T	p.T1509T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		27	4751	+			1509			TSP type-1 9.		A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.4527G>T	CCDS10326.1																																																																																				0.507	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		15	35	1	0	0.000308642	1	0.000320667	15	35				
FAM47B	170062	broad.mit.edu	37	X	34961676	34961676	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chrX:34961676G>A	ENST00000329357.5	+	1	764	c.728G>A	c.(727-729)cGc>cAc	p.R243H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	243	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCAGAGACTCGCGCATCTCAT	0.642													G|||	1	0.000264901	0.0008	0.0	3775	,	,		10389	0.0		0.0	False		,,,				2504	0.0					ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(727-729)cGc>cAc		family with sequence similarity 47, member B							56.0	53.0	54.0					X																	34961676		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961676G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.728G>A	X.37:g.34961676G>A	ENSP00000328307:p.Arg243His						p.R243H	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	764	+			243			Pro-rich.		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.728G>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	9.300	1.052785	0.19907	.	.	ENSG00000189132	ENST00000329357	T	0.15952	2.38	0.235	0.235	0.15431	.	.	.	.	.	T	0.09642	0.0237	N	0.25485	0.75	0.09310	N	1	B	0.24675	0.109	B	0.18871	0.023	T	0.30966	-0.9960	9	0.48119	T	0.1	.	2.6949	0.05132	0.4489:0.0:0.5511:0.0	.	243	Q8NA70	FA47B_HUMAN	H	243	ENSP00000328307:R243H	ENSP00000328307:R243H	R	+	2	0	FAM47B	34871597	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.046000	0.14035	0.288000	0.22398	0.292000	0.19580	CGC		0.642	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		25	101	0	0	0	1	0	25	101				
FBXW10	10517	broad.mit.edu	37	17	18659367	18659367	+	Missense_Mutation	SNP	A	A	G	rs201169182		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr17:18659367A>G	ENST00000395665.4	+	6	1353	c.1132A>G	c.(1132-1134)Aac>Gac	p.N378D	FBXW10_ENST00000395667.1_Missense_Mutation_p.N378D|FBXW10_ENST00000301938.4_Missense_Mutation_p.N378D|FBXW10_ENST00000308799.4_Missense_Mutation_p.N407D			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	378								p.N378D(2)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GAATGAGTACAACCTGTGGAC	0.478																																						ENST00000308799.4																			2	Substitution - Missense(2)	p.N378D(2)	urinary_tract(1)|endometrium(1)	NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1219-1221)Aac>Gac		F-box and WD repeat domain containing 10							57.0	55.0	56.0					17																	18659367		2203	4298	6501	SO:0001583	missense	10517							g.chr17:18659367A>G	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.1132A>G	17.37:g.18659367A>G	ENSP00000379025:p.Asn378Asp					FBXW10_ENST00000301938.4_Missense_Mutation_p.N378D|FBXW10_ENST00000395667.1_Missense_Mutation_p.N378D|FBXW10_ENST00000395665.4_Missense_Mutation_p.N378D	p.N407D			Q5XX13	FBW10_HUMAN			5	1438	+			378					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.1219A>G	CCDS11199.3	183	0.08379120879120878	29	0.05894308943089431	37	0.10220994475138122	78	0.13636363636363635	39	0.051451187335092345	A	10.78	1.445868	0.25987	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.21734	1.99;1.99;1.99;1.99	2.89	1.73	0.24493	F-box domain, Skp2-like (1);	1.275070	0.05828	U	0.617083	T	0.00210	0.0006	M	0.69823	2.125	0.27147	N	0.961514	P;B;P;P	0.50272	0.933;0.136;0.89;0.744	B;B;B;B	0.41510	0.359;0.046;0.197;0.21	T	0.12708	-1.0537	10	0.54805	T	0.06	.	6.9765	0.24679	0.7659:0.2341:0.0:0.0	.	378;407;378;378	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	D	378;407;378;378	ENSP00000379026:N378D;ENSP00000310382:N407D;ENSP00000306937:N378D;ENSP00000379025:N378D	ENSP00000306937:N378D	N	+	1	0	FBXW10	18600092	0.996000	0.38824	0.997000	0.53966	0.221000	0.24807	2.989000	0.49393	0.191000	0.20236	0.155000	0.16302	AAC		0.478	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		4	33	0	0	0	1	0	4	33				
GOLGA3	2802	broad.mit.edu	37	12	133378430	133378430	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:133378430G>A	ENST00000450791.2	-	7	1906	c.1723C>T	c.(1723-1725)Cgg>Tgg	p.R575W	GOLGA3_ENST00000545875.1_Missense_Mutation_p.R575W|GOLGA3_ENST00000204726.3_Missense_Mutation_p.R575W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R575W|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R575W			Q08378	GOGA3_HUMAN	golgin A3	575	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TACCACTGCCGGACACTCTGC	0.652																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1723-1725)Cgg>Tgg		golgin A3							94.0	86.0	89.0					12																	133378430		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133378430G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1723C>T	12.37:g.133378430G>A	ENSP00000410378:p.Arg575Trp					GOLGA3_ENST00000545875.1_Missense_Mutation_p.R575W|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R575W|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R575W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R575W	p.R575W	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	8	2281	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	575			Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.1723C>T	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401934	0.83120	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.8	3.95	0.45737	.	0.000000	0.85682	D	0.000000	T	0.81767	0.4892	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.83245	-0.0056	10	0.72032	D	0.01	.	15.1755	0.72907	0.0:0.0:0.6339:0.3661	.	575;575;575	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	W	575	ENSP00000204726:R575W;ENSP00000410378:R575W;ENSP00000409303:R575W;ENSP00000442143:R575W;ENSP00000442603:R575W	ENSP00000204726:R575W	R	-	1	2	GOLGA3	131888503	1.000000	0.71417	0.994000	0.49952	0.927000	0.56198	3.800000	0.55537	0.770000	0.33336	0.655000	0.94253	CGG		0.652	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		4	142	0	0	0	1	0	4	142				
E2F5	1875	broad.mit.edu	37	8	86115438	86115438	+	Missense_Mutation	SNP	T	T	G			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr8:86115438T>G	ENST00000416274.2	+	3	488	c.454T>G	c.(454-456)Ttg>Gtg	p.L152V	E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.L152V|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000418930.2_Missense_Mutation_p.L152V	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	152	Dimerization. {ECO:0000255}.				gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TCAGCAGAAGTTGTGGCTACA	0.318																																						ENST00000418930.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						c.(454-456)Ttg>Gtg		E2F transcription factor 5, p130-binding							69.0	67.0	68.0					8																	86115438		1864	4109	5973	SO:0001583	missense	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86115438T>G	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.454T>G	8.37:g.86115438T>G	ENSP00000398124:p.Leu152Val					E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000416274.2_Missense_Mutation_p.L152V|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.L152V	p.L152V			Q15329	E2F5_HUMAN			3	650	+			152			Dimerization (Potential).		E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	c.454T>G	CCDS47885.1	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268524	0.23136	.	.	ENSG00000133740	ENST00000418930;ENST00000256117;ENST00000416274	D;D;D	0.84370	-1.84;-1.84;-1.84	5.55	1.77	0.24775	.	0.421653	0.23918	N	0.043274	T	0.64670	0.2619	N	0.11064	0.09	0.28121	N	0.93062	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.002	T	0.49588	-0.8924	10	0.25751	T	0.34	-2.5806	2.3587	0.04301	0.1112:0.2641:0.1147:0.51	.	152;152	Q15329-2;Q15329	.;E2F5_HUMAN	V	152	ENSP00000414312:L152V;ENSP00000256117:L152V;ENSP00000398124:L152V	ENSP00000256117:L152V	L	+	1	2	E2F5	86302690	0.982000	0.34865	1.000000	0.80357	0.996000	0.88848	0.341000	0.19909	0.388000	0.25054	-0.297000	0.09499	TTG		0.318	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		6	37	0	0	0	1	0	6	37				
HAO1	54363	broad.mit.edu	37	20	7886869	7886869	+	Missense_Mutation	SNP	C	C	G	rs142998832	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr20:7886869C>G	ENST00000378789.3	-	4	704	c.653G>C	c.(652-654)aGc>aCc	p.S218T		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	218	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATCTTCCCAGCTGATAGATGG	0.388																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(652-654)aGc>aCc		hydroxyacid oxidase (glycolate oxidase) 1							152.0	144.0	146.0					20																	7886869		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7886869C>G	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.653G>C	20.37:g.7886869C>G	ENSP00000368066:p.Ser218Thr						p.S218T	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			4	704	-			218			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.653G>C	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	7.517	0.655965	0.14580	.	.	ENSG00000101323	ENST00000378789	T	0.27557	1.66	5.54	3.4	0.38934	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.163302	0.64402	D	0.000003	T	0.09024	0.0223	N	0.01482	-0.84	0.28675	N	0.905439	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.17048	-1.0382	10	0.19590	T	0.45	0.7636	4.2875	0.10862	0.0:0.5367:0.0:0.4633	.	218;218	A8K058;Q9UJM8	.;HAOX1_HUMAN	T	218	ENSP00000368066:S218T	ENSP00000368066:S218T	S	-	2	0	HAO1	7834869	0.997000	0.39634	1.000000	0.80357	0.970000	0.65996	1.144000	0.31565	1.338000	0.45544	-0.216000	0.12614	AGC		0.388	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			5	122	0	0	0	1	0	5	122				
TAS2R40	259286	broad.mit.edu	37	7	142919270	142919270	+	Silent	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr7:142919270C>T	ENST00000408947.3	+	1	141	c.99C>T	c.(97-99)atC>atT	p.I33I	AC073342.1_ENST00000595842.1_Missense_Mutation_p.D31N	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	33					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TCACTGGCATCCTTGGGAGTG	0.517																																						ENST00000595842.1																			0											c.(91-93)Gat>Aat									106.0	109.0	108.0					7																	142919270		2033	4186	6219	SO:0001819	synonymous_variant	259286							g.chr7:142919270C>T	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.99C>T	7.37:g.142919270C>T						TAS2R40_ENST00000408947.3_Silent_p.I33I	p.D31N							1	90	-								A4D2I2|Q645W6	Missense_Mutation	SNP	ENST00000408947.3	37	c.91G>A	CCDS43662.1																																																																																				0.517	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			22	125	0	0	0	1	0	22	125				
PCDH10	57575	broad.mit.edu	37	4	134073184	134073184	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr4:134073184G>A	ENST00000264360.5	+	1	2715	c.1889G>A	c.(1888-1890)cGc>cAc	p.R630H	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	630	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AACCTCTTTCGCATGGACTGG	0.672																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1888-1890)cGc>cAc		protocadherin 10							34.0	39.0	37.0					4																	134073184		2181	4281	6462	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073184G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1889G>A	4.37:g.134073184G>A	ENSP00000264360:p.Arg630His						p.R630H	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2715	+			630			Cadherin 6.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1889G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566733	0.65651	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.55413	0.52	4.16	4.16	0.48862	Cadherin (4);Cadherin-like (1);	0.000000	0.43416	D	0.000580	T	0.62768	0.2455	L	0.33710	1.025	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.953	T	0.67173	-0.5737	10	0.62326	D	0.03	.	16.2467	0.82448	0.0:0.0:1.0:0.0	.	630;630	Q9P2E7;Q96SF0	PCD10_HUMAN;.	H	630	ENSP00000264360:R630H	ENSP00000264360:R630H	R	+	2	0	PCDH10	134292634	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.595000	0.98260	2.137000	0.66172	0.563000	0.77884	CGC		0.672	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		6	92	0	0	0	1	0	6	92				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			220729							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	168	0	0	0	1	0	5	168				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							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			3	34	0	0	0	1	0	3	34				
CEP350	9857	broad.mit.edu	37	1	180061878	180061878	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:180061878G>A	ENST00000367607.3	+	34	7056	c.6638G>A	c.(6637-6639)aGg>aAg	p.R2213K	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2213					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGATCATCAAGGAAAATCAGA	0.368																																						ENST00000367607.3																			0				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						c.(6637-6639)aGg>aAg		centrosomal protein 350kDa							33.0	34.0	34.0					1																	180061878		2201	4300	6501	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180061878G>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.6638G>A	1.37:g.180061878G>A	ENSP00000356579:p.Arg2213Lys					CEP350_ENST00000490141.1_3'UTR	p.R2213K	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN			34	7056	+			2213					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.6638G>A	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	9.198	1.027769	0.19512	.	.	ENSG00000135837	ENST00000367607	T	0.57595	0.39	5.73	4.81	0.61882	.	0.000000	0.51477	D	0.000086	T	0.56572	0.1994	L	0.34521	1.04	0.09310	N	1	D;P	0.58268	0.982;0.688	D;B	0.67548	0.952;0.185	T	0.47058	-0.9146	9	.	.	.	.	8.3548	0.32324	0.0832:0.0:0.7607:0.1561	.	2213;2213	E7EU22;Q5VT06	.;CE350_HUMAN	K	2213	ENSP00000356579:R2213K	.	R	+	2	0	CEP350	178328501	0.998000	0.40836	0.065000	0.19835	0.014000	0.08584	2.736000	0.47385	1.394000	0.46624	-0.181000	0.13052	AGG		0.368	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		4	16	0	0	0	1	0	4	16				
MYLK3	91807	broad.mit.edu	37	16	46781938	46781938	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr16:46781938G>T	ENST00000394809.4	-	1	283	c.168C>A	c.(166-168)gaC>gaA	p.D56E	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	56					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGTGGCCCATGTCTCGGCACA	0.627																																						ENST00000394809.4																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37						c.(166-168)gaC>gaA		myosin light chain kinase 3							52.0	54.0	53.0					16																	46781938		2203	4300	6503	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46781938G>T	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.168C>A	16.37:g.46781938G>T	ENSP00000378288:p.Asp56Glu					MYLK3_ENST00000536476.1_Intron	p.D56E	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN			1	283	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	56					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.168C>A	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	G	9.409	1.080058	0.20309	.	.	ENSG00000140795	ENST00000394809	T	0.70282	-0.47	5.09	3.07	0.35406	.	0.213996	0.23654	N	0.045887	T	0.50973	0.1647	N	0.22421	0.69	0.80722	D	1	B	0.28470	0.213	B	0.23018	0.043	T	0.35992	-0.9766	10	0.31617	T	0.26	.	7.7548	0.28917	0.1454:0.25:0.6046:0.0	.	56	Q32MK0	MYLK3_HUMAN	E	56	ENSP00000378288:D56E	ENSP00000378288:D56E	D	-	3	2	MYLK3	45339439	0.987000	0.35691	0.788000	0.31933	0.010000	0.07245	0.762000	0.26503	0.500000	0.27991	0.491000	0.48974	GAC		0.627	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493		11	54	1	0	9.70103e-10	1	1.09307e-09	11	54				
SOX9	6662	broad.mit.edu	37	17	70119078	70119078	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr17:70119078G>A	ENST00000245479.2	+	2	1022	c.650G>A	c.(649-651)gGc>gAc	p.G217D		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	217					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			TCCTCCTCCGGCATGAGCGAG	0.697																																					Pancreas(42;83 1041 2320 35205 39456)	ENST00000245479.2																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26						c.(649-651)gGc>gAc		SRY (sex determining region Y)-box 9							55.0	60.0	58.0					17																	70119078		2203	4300	6503	SO:0001583	missense	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70119078G>A	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.650G>A	17.37:g.70119078G>A	ENSP00000245479:p.Gly217Asp						p.G217D	NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		2	1022	+		Colorectal(1115;0.245)	217					Q53Y80	Missense_Mutation	SNP	ENST00000245479.2	37	c.650G>A	CCDS11689.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174881	0.78564	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	D	0.83755	-1.76	4.61	4.61	0.57282	.	0.104673	0.64402	D	0.000003	T	0.79981	0.4540	L	0.57536	1.79	0.49582	D	0.999805	B	0.32245	0.361	B	0.21708	0.036	T	0.81972	-0.0688	10	0.87932	D	0	.	17.4407	0.87564	0.0:0.0:1.0:0.0	.	217	P48436	SOX9_HUMAN	D	217	ENSP00000245479:G217D	ENSP00000245479:G217D	G	+	2	0	SOX9	67630673	1.000000	0.71417	0.995000	0.50966	0.654000	0.38779	7.748000	0.85085	2.113000	0.64589	0.491000	0.48974	GGC		0.697	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		5	153	0	0	0	1	0	5	153				
FZD10	11211	broad.mit.edu	37	12	130648600	130648600	+	Silent	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:130648600C>T	ENST00000229030.4	+	1	1597	c.1113C>T	c.(1111-1113)gtC>gtT	p.V371V	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.H339Y			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	371					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGATCCTGGTCATGCGCAGGG	0.662																																						ENST00000539839.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35						c.(1015-1017)Cat>Tat		frizzled family receptor 10							61.0	57.0	58.0					12																	130648600		2203	4300	6503	SO:0001819	synonymous_variant	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130648600C>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1113C>T	12.37:g.130648600C>T						FZD10_ENST00000229030.4_Silent_p.V371V	p.H339Y	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	1597	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		0						Missense_Mutation	SNP	ENST00000229030.4	37	c.1015C>T	CCDS9267.1	.	.	.	.	.	.	.	.	.	.	C	8.932	0.963692	0.18583	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.21	-3.96	0.04106	.	.	.	.	.	T	0.73544	0.3600	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.78590	-0.2145	5	0.87932	D	0	.	18.0398	0.89315	0.0:0.6561:0.1902:0.1536	.	.	.	.	Y	339	.	ENSP00000438460:H339Y	H	+	1	0	FZD10	129214553	0.732000	0.28121	0.949000	0.38748	0.948000	0.59901	-0.171000	0.09883	-0.752000	0.04728	-0.311000	0.09066	CAT		0.662	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	65	0	0	0	1	0	7	65				
XAB2	56949	broad.mit.edu	37	19	7685213	7685213	+	Silent	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:7685213G>A	ENST00000358368.4	-	16	2251	c.2214C>T	c.(2212-2214)gtC>gtT	p.V738V	XAB2_ENST00000534844.1_Silent_p.V735V	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	738					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CCATGAAGTTGACCTGCGTGT	0.612								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(2212-2214)gtC>gtT	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							97.0	89.0	92.0					19																	7685213		2203	4300	6503	SO:0001819	synonymous_variant	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7685213G>A	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.2214C>T	19.37:g.7685213G>A						XAB2_ENST00000534844.1_Silent_p.V735V	p.V738V	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			16	2251	-			738					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	37	c.2214C>T	CCDS32892.1																																																																																				0.612	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		15	60	0	0	0	1	0	15	60				
GPAA1P2	106481722	broad.mit.edu	37	2	111144370	111144370	+	RNA	SNP	T	T	C			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr2:111144370T>C	ENST00000488671.1	-	0	1145				AC112229.4_ENST00000606848.1_RNA																							GGCAGCACCATAGTGGCGGCC	0.622																																						ENST00000606848.1																			0																																																			0							g.chr2:111144370T>C																													2.37:g.111144370T>C														0	1370	-									RNA	SNP	ENST00000488671.1	37																																																																																						0.622	RP13-1039J1.4-001	KNOWN	not_organism_supported|basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000472131.1			3	8	0	0	0	1	0	3	8				
ABCC12	94160	broad.mit.edu	37	16	48149453	48149453	+	Missense_Mutation	SNP	C	C	T	rs199509150		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr16:48149453C>T	ENST00000311303.3	-	13	2207	c.1862G>A	c.(1861-1863)cGt>cAt	p.R621H	ABCC12_ENST00000416054.1_Missense_Mutation_p.V597I|ABCC12_ENST00000448542.1_Missense_Mutation_p.R621H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	621	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTAGAGCTGACGGTCGGAGTA	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18279	0.0		0.0	False		,,,				2504	0.0					ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(1861-1863)cGt>cAt		ATP-binding cassette, sub-family C (CFTR/MRP), member 12		C	HIS/ARG	0,4402		0,0,2201	86.0	78.0	81.0		1862	0.6	0.0	16		81	2,8598	2.2+/-6.3	0,2,4298	no	missense	ABCC12	NM_033226.2	29	0,2,6499	TT,TC,CC		0.0233,0.0,0.0154	benign	621/1360	48149453	2,13000	2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48149453C>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1862G>A	16.37:g.48149453C>T	ENSP00000311030:p.Arg621His					ABCC12_ENST00000448542.1_Missense_Mutation_p.R621H|ABCC12_ENST00000416054.1_Missense_Mutation_p.V597I	p.R621H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			13	2207	-		all_cancers(37;0.0474)|all_lung(18;0.047)	621			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.1862G>A	CCDS10730.1	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	C|C	8.186|8.186	0.794993|0.794993	0.16327|0.16327	0.0|0.0	2.33E-4|2.33E-4	ENSG00000140798|ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939|ENST00000416054	D;D|D	0.85013|0.93307	-1.93;-1.93|-3.2	5.09|5.09	0.548|0.548	0.17208|0.17208	ATPase, AAA+ type, core (1);ABC transporter-like (2);|.	0.378699|.	0.28203|.	N|.	0.016204|.	D|D	0.89037|0.89037	0.6601|0.6601	N|N	0.25060|0.25060	0.705|0.705	0.09310|0.09310	N|N	1|1	B|.	0.26483|.	0.15|.	B|.	0.29524|.	0.103|.	T|T	0.80801|0.80801	-0.1220|-0.1220	10|7	0.49607|0.72032	T|D	0.09|0.01	.|.	10.4478|10.4478	0.44505|0.44505	0.0:0.748:0.0:0.252|0.0:0.748:0.0:0.252	.|.	621|.	Q96J65|.	MRP9_HUMAN|.	H|I	621;621;563|597	ENSP00000311030:R621H;ENSP00000401855:R621H|ENSP00000413046:V597I	ENSP00000311030:R621H|ENSP00000413046:V597I	R|V	-|-	2|1	0|0	ABCC12|ABCC12	46706954|46706954	0.103000|0.103000	0.21917|0.21917	0.029000|0.029000	0.17559|0.17559	0.005000|0.005000	0.04900|0.04900	0.258000|0.258000	0.18387|0.18387	-0.059000|-0.059000	0.13154|0.13154	-0.244000|-0.244000	0.11960|0.11960	CGT|GTC		0.622	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		16	91	0	0	0	1	0	16	91				
AP1G2	8906	broad.mit.edu	37	14	24032660	24032660	+	Missense_Mutation	SNP	C	C	T	rs140628752	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr14:24032660C>T	ENST00000308724.5	-	13	2094	c.1339G>A	c.(1339-1341)Ggg>Agg	p.G447R	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.G447R|AP1G2_ENST00000556277.1_5'Flank|RP11-66N24.4_ENST00000553985.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	447					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TGGGCCCCCCCAATCAGCTGG	0.602											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308724.5																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28						c.(1339-1341)Ggg>Agg		adaptor-related protein complex 1, gamma 2 subunit							65.0	53.0	57.0					14																	24032660		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24032660C>T	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1339G>A	14.37:g.24032660C>T	ENSP00000312442:p.Gly447Arg		OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768	AP1G2_ENST00000397120.3_Missense_Mutation_p.G447R|RP11-66N24.3_ENST00000555968.1_RNA	p.G447R	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	13	2094	-	all_cancers(95;0.000251)		447					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.1339G>A	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142916	0.77888	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.22945	1.93;1.93	4.72	4.72	0.59763	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.189374	0.47093	D	0.000241	T	0.28532	0.0706	N	0.14661	0.345	0.41488	D	0.988209	D;D	0.58620	0.983;0.983	D;D	0.65140	0.917;0.932	T	0.07065	-1.0792	10	0.66056	D	0.02	-11.9024	8.7472	0.34594	0.0:0.8994:0.0:0.1006	.	447;302	O75843;Q86V28	AP1G2_HUMAN;.	R	447;447;216;302	ENSP00000312442:G447R;ENSP00000380309:G447R	ENSP00000312442:G447R	G	-	1	0	AP1G2	23102500	1.000000	0.71417	0.999000	0.59377	0.893000	0.52053	3.414000	0.52693	2.429000	0.82318	0.563000	0.77884	GGG		0.602	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4	NM_003917		9	29	0	0	0	1	0	9	29				
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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"""		333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(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	GRCh37	CM951226	TP53	M		c.(637-639)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578212G>A	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*	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_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*	p.R213*	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)	6	769	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	213		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.637C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	64	0	0	0	1	0	15	64				
SLC2A9	56606	broad.mit.edu	37	4	10027568	10027568	+	Missense_Mutation	SNP	C	C	T	rs200503549		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr4:10027568C>T	ENST00000506583.1	-	3	240	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	SLC2A9_ENST00000309065.3_Missense_Mutation_p.R8Q			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	0					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	ATCTTCTCCTCGGTCCTTTTT	0.388																																						ENST00000506583.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(22-24)cGa>cAa		solute carrier family 2 (facilitated glucose transporter), member 9							147.0	150.0	149.0					4																	10027568		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:10027568C>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000506583.1:c.23G>A	4.37:g.10027568C>T	ENSP00000422209:p.Arg8Gln					SLC2A9_ENST00000309065.3_Missense_Mutation_p.R8Q	p.R8Q			Q9NRM0	GTR9_HUMAN			3	240	-			0					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000506583.1	37	c.23G>A	CCDS3406.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.853136	0.00563	.	.	ENSG00000109667	ENST00000506583;ENST00000309065;ENST00000513129	D;D;D	0.87412	-1.62;-1.62;-2.25	3.59	0.806	0.18708	.	.	.	.	.	T	0.64768	0.2628	N	0.02011	-0.69	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.52616	-0.8552	8	.	.	.	.	6.6076	0.22734	0.0:0.3235:0.3442:0.3323	.	8	Q9NRM0-2	.	Q	8	ENSP00000422209:R8Q;ENSP00000311383:R8Q;ENSP00000426800:R8Q	.	R	-	2	0	SLC2A9	9636666	0.004000	0.15560	0.004000	0.12327	0.031000	0.12232	0.701000	0.25616	-0.070000	0.12908	-2.352000	0.00242	CGA		0.388	SLC2A9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207054.2			4	56	0	0	0	1	0	4	56				
GUCY1B3	2983	broad.mit.edu	37	4	156698722	156698722	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr4:156698722C>A	ENST00000264424.8	+	4	307	c.225C>A	c.(223-225)ttC>ttA	p.F75L	GUCY1B3_ENST00000505154.1_Missense_Mutation_p.F7L|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.F75L|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.F7L|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.F7L|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.F75L|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.F55L	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	75					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AGATGTTTTTCGTCTTTTGCC	0.353																																						ENST00000264424.8																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(223-225)ttC>ttA		guanylate cyclase 1, soluble, beta 3							178.0	164.0	168.0					4																	156698722		1827	4078	5905	SO:0001583	missense	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156698722C>A	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.225C>A	4.37:g.156698722C>A	ENSP00000264424:p.Phe75Leu					GUCY1B3_ENST00000505764.1_Missense_Mutation_p.F55L|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.F75L|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.F7L|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.F7L|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.F75L|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.F7L	p.F75L	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	4	307	+	all_hematologic(180;0.24)	Renal(120;0.0854)	75					B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	c.225C>A	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352335	0.61293	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.35	-4.26	0.03755	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.34600	0.0903	L	0.49455	1.56	0.42869	D	0.994137	P;B;B;P;B	0.41041	0.558;0.452;0.387;0.736;0.143	B;B;B;B;B	0.42422	0.333;0.387;0.328;0.318;0.136	T	0.28459	-1.0043	10	0.27082	T	0.32	.	13.8026	0.63212	0.0:0.511:0.0:0.489	.	55;75;7;75;75	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	L	7;75;55;7;75;75;7	ENSP00000427226:F7L;ENSP00000426786:F75L;ENSP00000426319:F55L;ENSP00000422313:F7L;ENSP00000264424:F75L;ENSP00000420842:F75L;ENSP00000425065:F7L	ENSP00000264424:F75L	F	+	3	2	GUCY1B3	156918172	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	0.882000	0.28186	-0.629000	0.05575	-0.218000	0.12543	TTC		0.353	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			15	99	1	0	3.35478e-16	1	3.94679e-16	15	99				
KIF5A	3798	broad.mit.edu	37	12	57963187	57963187	+	Splice_Site	SNP	G	G	A			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:57963187G>A	ENST00000455537.2	+	10	1242	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	KIF5A_ENST00000286452.5_Splice_Site_p.R234Q	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	323	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TTTGGGCAGCGGTCAGTGGCA	0.572																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.e10+1		kinesin family member 5A							75.0	77.0	76.0					12																	57963187		2203	4300	6503	SO:0001630	splice_region_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57963187G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.968+1G>A	12.37:g.57963187G>A						KIF5A_ENST00000286452.5_Splice_Site_p.R234_splice	p.R323_splice	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			10	1242	+			323			Kinesin-motor.		A6H8M5|Q4LE26	Splice_Site	SNP	ENST00000455537.2	37	c.968_splice	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	35	5.419638	0.96111	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.78126	-1.15;-1.15	4.23	4.23	0.50019	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.90113	0.6911	M	0.92026	3.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92521	0.6025	10	0.87932	D	0	.	15.9283	0.79639	0.0:0.0:1.0:0.0	.	234;323	B7Z2M7;Q12840	.;KIF5A_HUMAN	Q	323;234	ENSP00000408979:R323Q;ENSP00000286452:R234Q	ENSP00000286452:R234Q	R	+	2	0	KIF5A	56249454	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.297000	0.96120	2.362000	0.80069	0.555000	0.69702	CGG		0.572	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984	Missense_Mutation	24	133	0	0	0	1	0	24	133				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			650368							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	60	0	0	0	1	0	4	60				
WNT1	7471	broad.mit.edu	37	12	49373479	49373479	+	Silent	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:49373479C>T	ENST00000293549.3	+	2	369	c.333C>T	c.(331-333)caC>caT	p.H111H		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	111					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		CAGGGCCCCACCTCTTCGGCA	0.682																																						ENST00000293549.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(331-333)caC>caT		wingless-type MMTV integration site family, member 1							23.0	23.0	23.0					12																	49373479		2203	4300	6503	SO:0001819	synonymous_variant	7471				brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	g.chr12:49373479C>T	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.333C>T	12.37:g.49373479C>T							p.H111H	NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.244)	2	369	+			111					Q5U0N2	Silent	SNP	ENST00000293549.3	37	c.333C>T	CCDS8776.1																																																																																				0.682	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1			20	46	0	0	0	1	0	20	46				
MTMR4	9110	broad.mit.edu	37	17	56572427	56572427	+	Missense_Mutation	SNP	G	G	A	rs148437803	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr17:56572427G>A	ENST00000323456.5	-	16	3200	c.3076C>T	c.(3076-3078)Cgg>Tgg	p.R1026W	MTMR4_ENST00000579925.1_Missense_Mutation_p.R969W	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1026					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGATTTGCCGTAACCTATGC	0.552													G|||	3	0.000599042	0.0015	0.0	5008	,	,		23790	0.0		0.001	False		,,,				2504	0.0					ENST00000323456.5																			0				breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36						c.(3076-3078)Cgg>Tgg		myotubularin related protein 4		G	TRP/ARG	1,4405	4.2+/-10.8	0,1,2202	213.0	176.0	189.0		3076	5.6	1.0	17	dbSNP_134	189	11,8589	8.4+/-32.0	0,11,4289	yes	missense	MTMR4	NM_004687.4	101	0,12,6491	AA,AG,GG		0.1279,0.0227,0.0923	probably-damaging	1026/1196	56572427	12,12994	2203	4300	6503	SO:0001583	missense	9110					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	g.chr17:56572427G>A	AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.3076C>T	17.37:g.56572427G>A	ENSP00000325285:p.Arg1026Trp					MTMR4_ENST00000579925.1_Missense_Mutation_p.R969W	p.R1026W	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN			16	3200	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1026					D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	ENST00000323456.5	37	c.3076C>T	CCDS11608.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	0	0.0	1	0.0013192612137203166	G	16.98	3.272396	0.59649	2.27E-4	0.001279	ENSG00000108389	ENST00000323456	D	0.94576	-3.46	5.58	5.58	0.84498	.	0.113529	0.56097	D	0.000021	D	0.96100	0.8729	L	0.55481	1.735	0.38072	D	0.936411	D	0.89917	1.0	D	0.91635	0.999	D	0.97005	0.9732	10	0.87932	D	0	.	13.5148	0.61535	0.0:0.0:0.8441:0.1559	.	1026	Q9NYA4	MTMR4_HUMAN	W	1026	ENSP00000325285:R1026W	ENSP00000325285:R1026W	R	-	1	2	MTMR4	53927426	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.415000	0.52700	2.627000	0.88993	0.555000	0.69702	CGG		0.552	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444721.1	NM_004687		20	125	0	0	0	1	0	20	125				
UBQLN3	50613	broad.mit.edu	37	11	5529680	5529680	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:5529680C>T	ENST00000311659.4	-	2	1256	c.1109G>A	c.(1108-1110)aGc>aAc	p.S370N	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_5'Flank|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	370								p.S370I(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTTCCTGGCTTTGGCTGAG	0.542																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			1	Substitution - Missense(1)	p.S370I(1)	NS(1)	NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(1108-1110)aGc>aAc		ubiquilin 3							152.0	157.0	156.0					11																	5529680		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529680C>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1109G>A	11.37:g.5529680C>T	ENSP00000347997:p.Ser370Asn					HBG2_ENST00000380259.2_Intron	p.S370N	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1256	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	370					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.1109G>A	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	C	0.228	-1.023608	0.02061	.	.	ENSG00000175520	ENST00000311659	T	0.37235	1.21	5.09	1.45	0.22620	.	0.604578	0.14873	N	0.293416	T	0.24044	0.0582	L	0.41027	1.25	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.16129	-1.0413	10	0.40728	T	0.16	-34.6707	3.4264	0.07412	0.0:0.4986:0.205:0.2965	.	370	Q9H347	UBQL3_HUMAN	N	370	ENSP00000347997:S370N	ENSP00000347997:S370N	S	-	2	0	UBQLN3	5486256	0.003000	0.15002	0.240000	0.24138	0.212000	0.24457	-0.210000	0.09345	0.581000	0.29539	0.655000	0.94253	AGC		0.542	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		32	156	0	0	0	1	0	32	156				
SP140	11262	broad.mit.edu	37	2	231162144	231162144	+	Silent	SNP	G	G	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr2:231162144G>T	ENST00000392045.3	+	22	2139	c.2025G>T	c.(2023-2025)ctG>ctT	p.L675L	SP140_ENST00000350136.5_Silent_p.L544L|SP140_ENST00000417495.3_Silent_p.L561L|SP140_ENST00000486687.2_Silent_p.L599L|SP140_ENST00000343805.6_Silent_p.L615L|SP140_ENST00000420434.3_Silent_p.L648L	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	675					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAGAATACTGAAGTCTCAAA	0.338																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(2023-2025)ctG>ctT		SP140 nuclear body protein							93.0	85.0	88.0					2																	231162144		1854	4119	5973	SO:0001819	synonymous_variant	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231162144G>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.2025G>T	2.37:g.231162144G>T						SP140_ENST00000343805.6_Silent_p.L615L|SP140_ENST00000417495.3_Silent_p.L561L|SP140_ENST00000420434.3_Silent_p.L648L|SP140_ENST00000486687.2_Silent_p.L599L|SP140_ENST00000350136.5_Silent_p.L544L	p.L675L	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	22	2139	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	675					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Silent	SNP	ENST00000392045.3	37	c.2025G>T	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	0.516	-0.864316	0.02590	.	.	ENSG00000079263	ENST00000537563	.	.	.	2.1	-2.45	0.06481	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	8.232	6.7244	0.23348	0.6789:0.0:0.3211:0.0	.	.	.	.	L	190	.	.	X	+	2	2	SP140	230870388	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.796000	0.04575	-0.732000	0.04856	0.456000	0.33151	TGA		0.338	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		17	28	1	0	5.01169e-05	1	5.34581e-05	17	28				
SLC6A12	6539	broad.mit.edu	37	12	313743	313743	+	Silent	SNP	G	G	A	rs545188353		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:313743G>A	ENST00000428720.1	-	4	1079	c.336C>T	c.(334-336)tgC>tgT	p.C112C	SLC6A12_ENST00000359674.4_Silent_p.C112C|RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000538272.1_5'Flank|SLC6A12_ENST00000536824.1_Silent_p.C112C|SLC6A12_ENST00000424061.2_Silent_p.C112C|SLC6A12_ENST00000397296.2_Silent_p.C112C	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	112					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GGAAGAGGGGGCAGATCTTCC	0.602																																						ENST00000428720.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26						c.(334-336)tgC>tgT		solute carrier family 6 (neurotransmitter transporter), member 12							78.0	68.0	72.0					12																	313743		2203	4300	6503	SO:0001819	synonymous_variant	6539				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:313743G>A	L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.336C>T	12.37:g.313743G>A						RP11-283I3.2_ENST00000539568.1_RNA|SLC6A12_ENST00000397296.2_Silent_p.C112C|SLC6A12_ENST00000359674.4_Silent_p.C112C|SLC6A12_ENST00000424061.2_Silent_p.C112C|SLC6A12_ENST00000536824.1_Silent_p.C112C	p.C112C	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00227)		4	1079	-	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		112					A0AV52|B2R992|D3DUN8	Silent	SNP	ENST00000428720.1	37	c.336C>T	CCDS8501.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.766986	0.31320	.	.	ENSG00000111181	ENST00000535347	T	0.54479	0.57	4.49	0.425	0.16473	.	.	.	.	.	T	0.59142	0.2172	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60311	-0.7288	6	0.87932	D	0	.	9.1601	0.37016	0.4764:0.0:0.5236:0.0	.	.	.	.	V	73	ENSP00000446082:A73V	ENSP00000446082:A73V	A	-	2	0	SLC6A12	184004	0.951000	0.32395	1.000000	0.80357	0.942000	0.58702	0.104000	0.15313	0.108000	0.17862	0.491000	0.48974	GCC		0.602	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206671.2	NM_003044		17	46	0	0	0	1	0	17	46				
GCN1L1	10985	broad.mit.edu	37	12	120615320	120615320	+	Silent	SNP	T	T	C			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:120615320T>C	ENST00000300648.6	-	9	780	c.768A>G	c.(766-768)tcA>tcG	p.S256S		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	256					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTTAAATTCTGAGTGGGACA	0.473																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(766-768)tcA>tcG		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							86.0	80.0	82.0					12																	120615320		1921	4147	6068	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120615320T>C	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.768A>G	12.37:g.120615320T>C							p.S256S	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			9	780	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		256					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.768A>G	CCDS41847.1																																																																																				0.473	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			4	49	0	0	0	1	0	4	49				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		4	117	0	0	0	1	0	4	117				
KRI1	65095	broad.mit.edu	37	19	10668562	10668562	+	Missense_Mutation	SNP	C	C	T	rs144833930	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:10668562C>T	ENST00000312962.6	-	15	1406	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	KRI1_ENST00000361821.5_Missense_Mutation_p.D459N	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	457						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGGTCGTAGTCGGCGTCCATC	0.657																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1387-1389)Gac>Aac		KRI1 homolog (S. cerevisiae)		C	ASN/ASP	3,4403	6.2+/-15.9	0,3,2200	31.0	33.0	32.0		1387	5.4	0.9	19	dbSNP_134	32	0,8600		0,0,4300	no	missense	KRI1	NM_023008.3	23	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging	463/710	10668562	3,13003	2203	4300	6503	SO:0001583	missense	65095							g.chr19:10668562C>T		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1387G>A	19.37:g.10668562C>T	ENSP00000320917:p.Asp463Asn					KRI1_ENST00000361821.5_Missense_Mutation_p.D459N	p.D463N	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		15	1406	-			463					Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.1387G>A	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327531	0.81690	6.81E-4	0.0	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	T;T	0.11277	2.98;2.79	5.36	5.36	0.76844	.	0.048660	0.85682	D	0.000000	T	0.36936	0.0985	M	0.85777	2.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.64506	0.926;0.926	T	0.19549	-1.0302	10	0.49607	T	0.09	-52.0566	17.8468	0.88732	0.0:1.0:0.0:0.0	.	463;459	Q8N9T8;D3YTE0	KRI1_HUMAN;.	N	463;459;463	ENSP00000320917:D463N;ENSP00000355366:D459N	ENSP00000320917:D463N	D	-	1	0	KRI1	10529562	1.000000	0.71417	0.949000	0.38748	0.237000	0.25408	6.682000	0.74528	2.517000	0.84864	0.563000	0.77884	GAC		0.657	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		10	33	0	0	0	1	0	10	33				
ITGA7	3679	broad.mit.edu	37	12	56078994	56078994	+	Nonsense_Mutation	SNP	G	G	A	rs372423716		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:56078994G>A	ENST00000555728.1	-	26	3422	c.3394C>T	c.(3394-3396)Cga>Tga	p.R1132*	ITGA7_ENST00000452168.2_Nonsense_Mutation_p.R995*|ITGA7_ENST00000257879.6_Nonsense_Mutation_p.R1088*|ITGA7_ENST00000553804.1_Nonsense_Mutation_p.R1092*|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000347027.6_Nonsense_Mutation_p.R1082*|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000394230.2_3'UTR			Q13683	ITA7_HUMAN	integrin, alpha 7	1132					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AACTGCTGTCGGTCTTCCCGA	0.627																																						ENST00000257879.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3262-3264)Cga>Tga		integrin, alpha 7		G	stop/ARG,stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	91.0	80.0	84.0		3274,2983,3262	5.1	1.0	12		84	0,8600		0,0,4300	no	stop-gained,stop-gained,stop-gained	ITGA7	NM_001144996.1,NM_001144997.1,NM_002206.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	1092/1142,995/1045,1088/1138	56078994	1,13005	2203	4300	6503	SO:0001587	stop_gained	3679				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	g.chr12:56078994G>A		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.3394C>T	12.37:g.56078994G>A	ENSP00000452387:p.Arg1132*					ITGA7_ENST00000555728.1_Nonsense_Mutation_p.R1132*|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000553804.1_Nonsense_Mutation_p.R1092*|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000347027.6_Nonsense_Mutation_p.R1082*|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000452168.2_Nonsense_Mutation_p.R995*	p.R1088*	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN			25	3477	-			1132					B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Nonsense_Mutation	SNP	ENST00000555728.1	37	c.3262C>T		.	.	.	.	.	.	.	.	.	.	G	42	9.245003	0.99111	2.27E-4	0.0	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000555728	.	.	.	5.12	5.12	0.69794	.	3.839120	0.00508	N	0.000174	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1898	0.48679	0.0:0.0:0.8164:0.1836	.	.	.	.	X	1092;1088;1082;995;1132	.	ENSP00000257879:R1088X	R	-	1	2	ITGA7	54365261	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	3.305000	0.51873	2.381000	0.81170	0.555000	0.69702	CGA		0.627	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	NM_002206		17	78	0	0	0	1	0	17	78				
HIVEP3	59269	broad.mit.edu	37	1	42046798	42046798	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:42046798A>G	ENST00000372583.1	-	4	4556	c.3671T>C	c.(3670-3672)cTc>cCc	p.L1224P	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Missense_Mutation_p.L1224P|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L1224P|HIVEP3_ENST00000429157.2_Missense_Mutation_p.L1224P	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1224					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGCATGGGGAGGAAGGAAGG	0.582																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(3670-3672)cTc>cCc		human immunodeficiency virus type I enhancer binding protein 3							66.0	68.0	67.0					1																	42046798		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42046798A>G	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3671T>C	1.37:g.42046798A>G	ENSP00000361664:p.Leu1224Pro					HIVEP3_ENST00000247584.5_Missense_Mutation_p.L1224P|HIVEP3_ENST00000372583.1_Missense_Mutation_p.L1224P|HIVEP3_ENST00000429157.2_Missense_Mutation_p.L1224P	p.L1224P	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	4685	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1224					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.3671T>C	CCDS463.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.652285	0.29336	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.08008	3.15;3.14;3.14;3.15	4.87	4.87	0.63330	.	0.000000	0.44483	D	0.000455	T	0.16300	0.0392	L	0.27053	0.805	0.53688	D	0.999972	D;D	0.71674	0.998;0.996	D;P	0.65443	0.935;0.862	T	0.02126	-1.1209	10	0.54805	T	0.06	-0.5741	14.2996	0.66336	1.0:0.0:0.0:0.0	.	1224;1224	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	P	1224	ENSP00000361665:L1224P;ENSP00000361664:L1224P;ENSP00000247584:L1224P;ENSP00000410828:L1224P	ENSP00000247584:L1224P	L	-	2	0	HIVEP3	41819385	0.979000	0.34478	0.992000	0.48379	0.806000	0.45545	3.327000	0.52045	2.055000	0.61198	0.383000	0.25322	CTC		0.582	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		7	93	0	0	0	1	0	7	93				
NF1	4763	broad.mit.edu	37	17	29508730	29508730	+	Silent	SNP	A	A	G			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr17:29508730A>G	ENST00000358273.4	+	7	1040	c.657A>G	c.(655-657)gcA>gcG	p.A219A	NF1_ENST00000356175.3_Silent_p.A219A|NF1_ENST00000431387.4_Silent_p.A219A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	219					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTTATAGGCATTTTGGAACT	0.299			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(655-657)gcA>gcG		neurofibromin 1							62.0	66.0	65.0					17																	29508730		2203	4297	6500	SO:0001819	synonymous_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29508730A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.657A>G	17.37:g.29508730A>G		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000431387.4_Silent_p.A219A|NF1_ENST00000356175.3_Silent_p.A219A	p.A219A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	7	1040	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	219					O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	c.657A>G	CCDS42292.1																																																																																				0.299	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		14	46	0	0	0	1	0	14	46				
SMARCA4	6597	broad.mit.edu	37	19	11144112	11144112	+	Silent	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr19:11144112C>T	ENST00000429416.3	+	27	3974	c.3693C>T	c.(3691-3693)gcC>gcT	p.A1231A	SMARCA4_ENST00000589677.1_Silent_p.A1231A|SMARCA4_ENST00000358026.2_Silent_p.A1231A|SMARCA4_ENST00000413806.3_Silent_p.A1231A|SMARCA4_ENST00000590574.1_Silent_p.A1231A|SMARCA4_ENST00000450717.3_Silent_p.A1231A|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000444061.3_Silent_p.A1231A|SMARCA4_ENST00000541122.2_Silent_p.A1231A|SMARCA4_ENST00000344626.4_Silent_p.A1231A	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1231	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGATCCAGGCCGGCATGTTCG	0.632			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(3691-3693)gcC>gcT		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							120.0	115.0	117.0					19																	11144112		2203	4300	6503	SO:0001819	synonymous_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11144112C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3693C>T	19.37:g.11144112C>T						SMARCA4_ENST00000541122.2_Silent_p.A1231A|SMARCA4_ENST00000590574.1_Silent_p.A1231A|SMARCA4_ENST00000589677.1_Silent_p.A1231A|SMARCA4_ENST00000444061.3_Silent_p.A1231A|SMARCA4_ENST00000450717.3_Silent_p.A1231A|SMARCA4_ENST00000429416.3_Silent_p.A1231A|SMARCA4_ENST00000344626.4_Silent_p.A1231A|SMARCA4_ENST00000413806.3_Silent_p.A1231A	p.A1231A	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			26	3977	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1231			Helicase C-terminal.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.3693C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	7.785	0.710399	0.15239	.	.	ENSG00000127616	ENST00000538456	.	.	.	4.74	-9.48	0.00591	.	.	.	.	.	T	0.35038	0.0918	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42766	-0.9432	4	.	.	.	-29.2939	3.4595	0.07527	0.0892:0.2362:0.1973:0.4773	.	.	.	.	W	1	.	.	R	+	1	2	SMARCA4	11005112	0.000000	0.05858	0.764000	0.31436	0.971000	0.66376	-4.218000	0.00272	-1.590000	0.01623	-1.414000	0.01117	CGG		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		19	181	0	0	0	1	0	19	181				
CCDC88B	283234	broad.mit.edu	37	11	64112385	64112385	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:64112385C>T	ENST00000356786.5	+	14	2416	c.2372C>T	c.(2371-2373)gCc>gTc	p.A791V	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	791						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGGAGCAAGCCCGGCTGCGG	0.731																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2371-2373)gCc>gTc		coiled-coil domain containing 88B							9.0	13.0	12.0					11																	64112385		2141	4195	6336	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64112385C>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2372C>T	11.37:g.64112385C>T	ENSP00000349238:p.Ala791Val					CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	p.A791V	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			14	2416	+			791					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.2372C>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	8.587	0.883785	0.17467	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.23754	1.89	3.45	1.13	0.20643	.	.	.	.	.	T	0.16854	0.0405	L	0.47716	1.5	0.24788	N	0.992777	P;P;P	0.42518	0.666;0.782;0.666	B;B;B	0.37888	0.194;0.26;0.194	T	0.12041	-1.0563	9	0.10636	T	0.68	.	6.0102	0.19571	0.2017:0.4025:0.3959:0.0	.	791;440;791	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	V	791	ENSP00000349238:A791V	ENSP00000349238:A791V	A	+	2	0	CCDC88B	63868961	0.003000	0.15002	0.986000	0.45419	0.845000	0.48019	0.014000	0.13333	0.690000	0.31570	0.444000	0.29173	GCC		0.731	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		3	39	0	0	0	1	0	3	39				
CDC42EP2	10435	broad.mit.edu	37	11	65088450	65088450	+	Silent	SNP	G	G	A	rs141215100		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:65088450G>A	ENST00000544348.1	+	2	687	c.81G>A	c.(79-81)tcG>tcA	p.S27S	CDC42EP2_ENST00000279249.2_Silent_p.S27S|CDC42EP2_ENST00000533419.1_Silent_p.S27S			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	27					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						TGCTGTCCTCGGACATGATCA	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17911	0.0		0.0	False		,,,				2504	0.0					ENST00000544348.1																			0				lung(1)	1						c.(79-81)tcG>tcA		CDC42 effector protein (Rho GTPase binding) 2		G		3,4399	6.2+/-15.9	0,3,2198	67.0	57.0	60.0		81	-10.2	0.0	11	dbSNP_134	60	0,8594		0,0,4297	no	coding-synonymous	CDC42EP2	NM_006779.3		0,3,6495	AA,AG,GG		0.0,0.0682,0.0231		27/211	65088450	3,12993	2201	4297	6498	SO:0001819	synonymous_variant	10435				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	g.chr11:65088450G>A	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"""CRIB-containing BOGR1 protein"""	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.81G>A	11.37:g.65088450G>A						CDC42EP2_ENST00000533419.1_Silent_p.S27S|CDC42EP2_ENST00000279249.2_Silent_p.S27S	p.S27S			O14613	BORG1_HUMAN			2	687	+			27					B2RD85|Q9UNS0	Silent	SNP	ENST00000544348.1	37	c.81G>A	CCDS8099.1																																																																																				0.602	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	NM_006779		21	56	0	0	0	1	0	21	56				
LOC101928372	101928372	broad.mit.edu	37	1	160905975	160905975	+	lincRNA	DEL	T	T	-	rs368373384	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr1:160905975delT	ENST00000427339.1	-	0	0				RP11-544M22.1_ENST00000356006.3_RNA																							cttcttcttcttttttttttt	0.393													|||unknown(HR)	181	0.0361422	0.1278	0.0144	5008	,	,		16599	0.0		0.001	False		,,,				2504	0.001					ENST00000356006.3																			0																																																			101928372							g.chr1:160905975delT																													1.37:g.160905975delT														0	629	+									RNA	DEL	ENST00000427339.1	37																																																																																						0.393	RP11-312J18.6-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000071456.1			3	6						3	6	---	---	---	---
H3F3AP4	440926	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000442996.1																			0																																																			440926							g.chr2:175585079delA																													2.37:g.175585079delA			OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1924									0	217	+									RNA	DEL	ENST00000442996.1	37																																																																																						0.368	AC018890.6-002	KNOWN	basic	antisense	antisense	OTTHUMT00000334128.1			3	5						3	5	---	---	---	---
CLDND1	56650	broad.mit.edu	37	3	98243869	98243871	+	5'Flank	DEL	TTG	TTG	-	rs202089246		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr3:98243869_98243871delTTG	ENST00000503004.1	-	0	0				CLDND1_ENST00000394185.2_5'Flank|RP11-227H4.5_ENST00000502999.1_RNA|CLDND1_ENST00000508503.1_5'Flank|CLDND1_ENST00000394180.2_5'Flank|CLDND1_ENST00000507874.1_5'Flank|CLDND1_ENST00000341181.6_5'Flank|CLDND1_ENST00000437922.1_5'Flank|CLDND1_ENST00000513287.1_5'Flank|CLDND1_ENST00000502288.1_5'Flank|CLDND1_ENST00000394181.2_5'Flank|CLDND1_ENST00000511081.1_5'Flank|CLDND1_ENST00000510545.1_5'Flank			Q9NY35	CLDN1_HUMAN	claudin domain containing 1							apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TTTTTTTTTTTTGTATTCTAATA	0.32																																						ENST00000502999.1																			0																																																	SO:0001631	upstream_gene_variant	1371							g.chr3:98243869_98243871delTTG	AF116664	CCDS2930.1, CCDS43116.1	3q12.1	2005-12-23	2005-12-23	2005-12-23		ENSG00000080822			1322	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 4"""	C3orf4			Standard	NM_001040181		Approved		uc003dst.3	Q9NY35			3.37:g.98243869_98243871delTTG	Exception_encountered													0	264	+								B3KQR1|D3DN36|F2Z2D9|Q502Y8|Q6UVX2|Q9BUZ9|Q9NZZ5|Q9Y4S9	RNA	DEL	ENST00000503004.1	37		CCDS2930.1																																																																																				0.320	CLDND1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359071.1	NM_019895		2	4						2	4	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108682418	108682419	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr3:108682418_108682419insT	ENST00000483760.1	-	26	2621_2622	c.2578_2579insA	c.(2578-2580)atafs	p.I860fs	MORC1_ENST00000232603.5_Frame_Shift_Ins_p.I881fs					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTCCTCTTTATTTTTTTTTCA	0.287																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(2641-2643)aaafs		MORC family CW-type zinc finger 1																																				SO:0001589	frameshift_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108682418_108682419insT	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2579dupA	3.37:g.108682427_108682427dupT	ENSP00000417282:p.Ile860fs					MORC1_ENST00000483760.1_Frame_Shift_Ins_p.K860fs	p.K881fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			27	2723_2724	-			881						Frame_Shift_Ins	INS	ENST00000483760.1	37	c.2641_2642insA																																																																																					0.287	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			7	69						7	69	---	---	---	---
EIF2A	83939	broad.mit.edu	37	3	150299510	150299510	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr3:150299510delA	ENST00000460851.1	+	12	1712	c.1603delA	c.(1603-1605)aaafs	p.K536fs	EIF2A_ENST00000273435.5_Frame_Shift_Del_p.K531fs|EIF2A_ENST00000383043.3_Frame_Shift_Del_p.K322fs|EIF2A_ENST00000406576.3_Frame_Shift_Del_p.K475fs|EIF2A_ENST00000487799.1_Frame_Shift_Del_p.K511fs|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000482471.1_3'UTR|SERP1_ENST00000490945.1_Intron			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	536					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGAGATAGACAAAAAAATCAA	0.403																																						ENST00000460851.1																			0				cervix(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(1603-1605)aafs		eukaryotic translation initiation factor 2A, 65kDa							31.0	32.0	32.0					3																	150299510		1847	4056	5903	SO:0001589	frameshift_variant	83939				regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding	g.chr3:150299510delA	AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1603delA	3.37:g.150299510delA	ENSP00000417229:p.Lys536fs					SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000383043.3_Frame_Shift_Del_p.K322fs|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000406576.3_Frame_Shift_Del_p.K475fs|EIF2A_ENST00000273435.5_Frame_Shift_Del_p.K531fs|EIF2A_ENST00000487799.1_Frame_Shift_Del_p.K511fs|EIF2A_ENST00000482471.1_3'UTR	p.K536fs			Q9BY44	EIF2A_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		12	1712	+		Melanoma(1037;0.0575)	536					A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Frame_Shift_Del	DEL	ENST00000460851.1	37	c.1603delA	CCDS46935.1																																																																																				0.403	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025		2	4						2	4	---	---	---	---
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-	rs571486674|rs145808953		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1435-1437)cfs		fibroblast growth factor receptor-like 1																																				SO:0001589	frameshift_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019055_1019056delCA		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1435_1436delCA	4.37:g.1019065_1019066delCA	ENSP00000381498:p.His479fs					FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs	p.H479fs			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	2015_2016	+			479			His-rich.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Frame_Shift_Del	DEL	ENST00000398484.2	37	c.1435_1436delCA	CCDS3344.1																																																																																				0.584	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		4	9						4	9	---	---	---	---
CFI	3426	broad.mit.edu	37	4	110662159	110662159	+	Frame_Shift_Del	DEL	C	C	-	rs7437875	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr4:110662159delC	ENST00000394634.2	-	13	1849	c.1642delG	c.(1642-1644)gaafs	p.E548fs	CFI_ENST00000394635.3_Frame_Shift_Del_p.E556fs|CFI_ENST00000512148.1_Frame_Shift_Del_p.E541fs	NM_000204.3	NP_000195	P05156	CFAI_HUMAN	complement factor I	548	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CCACAGTTTTCCCCCCAACTC	0.463																																						ENST00000394634.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27						c.(1642-1644)aafs		complement factor I							206.0	217.0	214.0					4																	110662159		2203	4300	6503	SO:0001589	frameshift_variant	3426				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr4:110662159delC	J02770	CCDS34049.1	4q25	2014-09-17	2006-02-10	2006-02-10		ENSG00000205403	3.4.21.45	"""Complement system"""	5394	protein-coding gene	gene with protein product	"""Konglutinogen-activating factor"", ""C3b-inactivator"""	217030	"""I factor (complement)"""	IF		2956252	Standard	NM_000204		Approved	FI, C3b-INA, KAF	uc003hzr.4	P05156		ENST00000394634.2:c.1642delG	4.37:g.110662159delC	ENSP00000378130:p.Glu548fs					CFI_ENST00000394635.3_Frame_Shift_Del_p.E556fs|CFI_ENST00000512148.1_Frame_Shift_Del_p.E541fs	p.E548fs	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000331)	13	1849	-		Hepatocellular(203;0.217)	548			Peptidase S1.		O60442	Frame_Shift_Del	DEL	ENST00000394634.2	37	c.1642delG	CCDS34049.1																																																																																				0.463	CFI-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_000204		7	393						7	393	---	---	---	---
PARP12	64761	broad.mit.edu	37	7	139762592	139762592	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr7:139762592delC	ENST00000263549.3	-	1	929	c.56delG	c.(55-57)ggcfs	p.G19fs		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	19						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CTCCAGGGCGCCCCCGGCCGC	0.781																																						ENST00000263549.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19						c.(55-57)gcfs		poly (ADP-ribose) polymerase family, member 12				5,1845		2,1,922	1.0	2.0	2.0			0.8	0.0	7		2	2,4030		0,2,2014	no	frameshift	PARP12	NM_022750.2		2,3,2936	A1A1,A1R,RR		0.0496,0.2703,0.119			139762592	7,5875	1068	2274	3342	SO:0001589	frameshift_variant	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139762592delC	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.56delG	7.37:g.139762592delC	ENSP00000263549:p.Gly19fs						p.G19fs	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN			1	929	-	Melanoma(164;0.0142)		19					Q9H610|Q9NP36|Q9NTI3	Frame_Shift_Del	DEL	ENST00000263549.3	37	c.56delG	CCDS5857.1																																																																																				0.781	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		2	4						2	4	---	---	---	---
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs563415390|rs148509143|rs374281647	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.73														3140	0.626997	0.8109	0.562	5008	,	,		8769	0.6577		0.4205	False		,,,				2504	0.6053					ENST00000308860.6																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.e12+1		aarF domain containing kinase 5				1836,894		805,226,334						4.5	0.7		dbSNP_120	4	2015,4403		639,737,1833	no	coding-near-splice	ADCK5	NM_174922.3		1444,963,2167	A1A1,A1R,RR		31.3961,32.7473,42.0966				3851,5297				SO:0001630	splice_region_variant	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1267+1GGGGGTGCAAGGTGA>-	8.37:g.145617535_145617549delGGGGGTGCAAGGTGA							p.L419_splice	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		12	1301_1311	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		419			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Splice_Site	DEL	ENST00000308860.6	37	c.1267_splice	CCDS34965.1																																																																																				0.730	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922	In_Frame_Del	4	4						4	4	---	---	---	---
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr9:117406_117407insG	ENST00000382500.2	-	1	1010_1011	c.713_714insC	c.(712-714)ccgfs	p.P238fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	238	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(712-714)cccfs		forkhead box D4																																				SO:0001589	frameshift_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117406_117407insG	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.714dupC	9.37:g.117410_117410dupG	ENSP00000371940:p.Pro238fs						p.P238fs	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	1010_1011	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	238			Pro-rich.		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Frame_Shift_Ins	INS	ENST00000382500.2	37	c.713_714insC	CCDS34975.1																																																																																				0.743	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		10	220						10	220	---	---	---	---
TMPRSS4-AS1	100526771	broad.mit.edu	37	11	117936783	117936783	+	RNA	DEL	C	C	-	rs138617947|rs555185670	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr11:117936783delC	ENST00000606951.1	-	0	43				TMPRSS4-AS1_ENST00000527695.1_RNA|TMPRSS4-AS1_ENST00000527329.1_RNA|Metazoa_SRP_ENST00000607615.1_RNA	NR_038318.1				TMPRSS4 antisense RNA 1																		AGCCACAGGACCCCCCGGACG	0.607													CCCCC|CCCCCC|CCCCC|insertion	161	0.0321486	0.1188	0.0058	5008	,	,		16113	0.0		0.0	False		,,,				2504	0.0					ENST00000606951.1																			0																																																			100526771							g.chr11:117936783delC			11q23.3	2012-10-12	2012-08-15		ENSG00000255274	ENSG00000255274		"""Long non-coding RNAs"""	44179	non-coding RNA	RNA, long non-coding			"""TMPRSS4 antisense RNA 1 (non-protein coding)"""				Standard	NR_038318		Approved		uc001pry.1		OTTHUMG00000166993		11.37:g.117936783delC						TMPRSS4-AS1_ENST00000527329.1_RNA|TMPRSS4-AS1_ENST00000527695.1_RNA		NR_038318.1						0	43	-									RNA	DEL	ENST00000606951.1	37																																																																																						0.607	TMPRSS4-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000470982.1	NR_038318		4	4						4	4	---	---	---	---
RP11-114H23.1	0	broad.mit.edu	37	12	76082490	76082491	+	lincRNA	INS	-	-	T	rs71276351		TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr12:76082490_76082491insT	ENST00000552856.1	-	0	401				SNORA70_ENST00000516084.2_RNA																							cattctTTTTCTTTTTTTTTTT	0.361																																						ENST00000552856.1																			0																																																			0							g.chr12:76082490_76082491insT																													12.37:g.76082501_76082501dupT														0	401	-									RNA	INS	ENST00000552856.1	37																																																																																						0.361	RP11-114H23.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000405775.2			3	4						3	4	---	---	---	---
CTD-3037G24.3	0	broad.mit.edu	37	16	12681794	12681795	+	RNA	INS	-	-	TC	rs397766876|rs142180235|rs34536364	byFrequency	TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr16:12681794_12681795insTC	ENST00000564505.1	-	0	307																											GGGGGTGATAGtctgtcaccca	0.48														2677	0.534545	0.7088	0.6182	5008	,	,		20886	0.3968		0.4523	False		,,,				2504	0.4663					ENST00000564505.1																			0																																																			0							g.chr16:12681794_12681795insTC																													16.37:g.12681795_12681796dupTC														0	307	-									RNA	INS	ENST00000564505.1	37																																																																																						0.480	CTD-3037G24.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000435699.1			3	4						3	4	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38142400	38142400	+	Intron	DEL	C	C	-			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr22:38142400delC	ENST00000406386.3	+	11	5577				TRIOBP_ENST00000407319.2_Frame_Shift_Del_p.L52fs|TRIOBP_ENST00000403663.2_Frame_Shift_Del_p.L52fs	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein						actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCTCCTGCTCCCGCCGCCCT	0.816																																						ENST00000403663.2																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(154-156)ctfs		TRIO and F-actin binding protein							1.0	1.0	1.0					22																	38142400		1024	2324	3348	SO:0001627	intron_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38142400delC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5322+5361C>-	22.37:g.38142400delC						TRIOBP_ENST00000406386.3_Intron|RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000407319.2_Frame_Shift_Del_p.L52fs	p.L52fs	NM_007032.5	NP_008963.3	Q9H2D6	TARA_HUMAN			1	161	+	Melanoma(58;0.0574)		1765					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Frame_Shift_Del	DEL	ENST00000406386.3	37	c.156delC	CCDS43015.1																																																																																				0.816	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			2	4						2	4	---	---	---	---
APOBEC3G	60489	broad.mit.edu	37	22	39477512	39477513	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chr22:39477512_39477513delAA	ENST00000407997.3	+	4	860_861	c.503_504delAA	c.(502-504)caafs	p.Q168fs	APOBEC3G_ENST00000452957.2_Frame_Shift_Del_p.Q168fs|APOBEC3G_ENST00000461827.1_3'UTR	NM_021822.3	NP_068594.1	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G	168					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)|viral process (GO:0016032)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|deoxycytidine deaminase activity (GO:0047844)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					GTGTACAGCCAAAGAGAGCTAT	0.48																																						ENST00000407997.3																			0				central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12						c.(502-504)cfs		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G																																				SO:0001589	frameshift_variant	60489							g.chr22:39477512_39477513delAA	AF182420	CCDS13984.1	22q13.1-q13.2	2008-05-15			ENSG00000239713	ENSG00000239713		"""Apolipoprotein B mRNA editing enzymes"""	17357	protein-coding gene	gene with protein product		607113				11863358	Standard	NM_021822		Approved	CEM15, MDS019, dJ494G10.1, FLJ12740, bK150C2.7		Q9HC16	OTTHUMG00000151081	ENST00000407997.3:c.503_504delAA	22.37:g.39477512_39477513delAA	ENSP00000385057:p.Gln168fs					APOBEC3G_ENST00000461827.1_3'UTR|APOBEC3G_ENST00000452957.2_Frame_Shift_Del_p.Q168fs	p.Q168fs	NM_021822.3	NP_068594.1					4	860_861	+	Melanoma(58;0.04)							B2RDR9|Q45F02|Q5TF77|Q7Z2N1|Q7Z2N4|Q9H9H8	Frame_Shift_Del	DEL	ENST00000407997.3	37	c.503_504delAA	CCDS13984.1																																																																																				0.480	APOBEC3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321219.1	NM_021822		46	150						46	150	---	---	---	---
TXLNGY	246126	broad.mit.edu	37	Y	21758039	21758039	+	RNA	DEL	A	A	-			TCGA-IQ-A61O-01A-11D-A30E-08	TCGA-IQ-A61O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80710170-f798-4580-ba99-e8292225f095	84615bac-ab8d-4525-9501-449d895fd0c4	g.chrY:21758039delA	ENST00000253320.4	+	0	3120																				haematopoietic_and_lymphoid_tissue(1)	1						TACTTCTTGGAAAAAAAAAAA	0.378													GA	15	0.0125209	0.0063	0.0059	1198	,	,		6405	0.0082		0.0063	False		,,,				1198	0.0038					ENST00000253320.4																			0				haematopoietic_and_lymphoid_tissue(1)	1																																														246126							g.chrY:21758039delA																													Y.37:g.21758039delA										Q9BZA5	CY15A_HUMAN			0	3120	+									RNA	DEL	ENST00000253320.4	37																																																																																						0.378	TXLNG2P-012	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000088781.1			3	6						3	6	---	---	---	---
