#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_ACHILLES_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
TAS1R3	83756	broad.mit.edu	37	1	1268436	1268436	+	Missense_Mutation	SNP	G	G	C	rs367749022		TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr1:1268436G>C	ENST00000339381.5	+	4	1443	c.1411G>C	c.(1411-1413)Gtg>Ctg	p.V471L		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	471					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GCTCCACGACGTGGGCAGGTT	0.662																																							uc010nyk.1		NA																	0					0						c.(1411-1413)GTG>CTG		taste receptor, type 1, member 3 precursor	Aspartame(DB00168)						51.0	48.0	49.0					1																	1268436		2200	4296	6496	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1268436G>C	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1411G>C	1.37:g.1268436G>C	ENSP00000344411:p.Val471Leu						p.V471L	NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	4	1411	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	471			Extracellular (Potential).		Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.1411G>C	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261882	0.39995	.	.	ENSG00000169962	ENST00000339381	D	0.90900	-2.75	4.57	3.64	0.41730	.	0.788118	0.11237	N	0.584984	D	0.84920	0.5579	N	0.08118	0	0.32979	D	0.523398	D	0.60575	0.988	P	0.51945	0.685	D	0.84967	0.0880	10	0.87932	D	0	.	8.0226	0.30419	0.2533:0.0:0.7467:0.0	.	471	Q7RTX0	TS1R3_HUMAN	L	471	ENSP00000344411:V471L	ENSP00000344411:V471L	V	+	1	0	TAS1R3	1258299	1.000000	0.71417	0.364000	0.25888	0.005000	0.04900	2.724000	0.47285	2.108000	0.64289	0.456000	0.33151	GTG		0.662	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			9	38	0	0	0	0.004482	0	9	38				
DFFA	1676	broad.mit.edu	37	1	10523219	10523219	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr1:10523219T>C	ENST00000377038.3	-	5	746	c.679A>G	c.(679-681)Atc>Gtc	p.I227V	DFFA_ENST00000377036.2_Missense_Mutation_p.I227V	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	227					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		TCTCTGCTGATACCCGTGTCT	0.552																																							uc001arj.2		NA																	0					0						c.(679-681)ATC>GTC		DNA fragmentation factor, 45kDa, alpha							110.0	77.0	88.0					1																	10523219		2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10523219T>C	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.679A>G	1.37:g.10523219T>C	ENSP00000366237:p.Ile227Val					DFFA_uc001ark.2_Missense_Mutation_p.I227V	p.I227V	NM_004401	NP_004392	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	5	777	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	227					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.679A>G	CCDS118.1	.	.	.	.	.	.	.	.	.	.	T	1.164	-0.643007	0.03531	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.06	-10.1	0.00402	DNA fragmentation factor 45kDa, C-terminal (3);	2.240870	0.01364	N	0.012335	T	0.18383	0.0441	N	0.12182	0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.32955	-0.9887	9	0.02654	T	1	-0.1514	10.0449	0.42180	0.0:0.4878:0.2807:0.2314	.	227;227	O00273-2;O00273	.;DFFA_HUMAN	V	227	.	ENSP00000366235:I227V	I	-	1	0	DFFA	10445806	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.782000	0.01772	-2.001000	0.00964	-0.263000	0.10527	ATC		0.552	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		15	25	0	0	0	0.003163	0	15	25				
MACF1	23499	broad.mit.edu	37	1	39853047	39853047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr1:39853047C>T	ENST00000372915.3	+	57	14635	c.14548C>T	c.(14548-14550)Caa>Taa	p.Q4850*	MACF1_ENST00000317713.7_Nonsense_Mutation_p.Q2783*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.Q4845*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Q4882*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Q3285*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Q2762*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Q2783*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Q2783*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4850					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGTCTTAATCAACACAGTGG	0.433																																							uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(9853-9855)CAA>TAA		microfilament and actin filament cross-linker							133.0	150.0	145.0					1																	39853047		2203	4300	6503	SO:0001587	stop_gained	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39853047C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.14548C>T	1.37:g.39853047C>T	ENSP00000362006:p.Gln4850*					MACF1_uc010ois.1_Nonsense_Mutation_p.Q2783*|MACF1_uc001cda.1_Nonsense_Mutation_p.Q2670*|MACF1_uc001cdc.1_Nonsense_Mutation_p.Q1849*	p.Q3285*	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		22	9984	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4850			Spectrin 4.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	ENST00000372915.3	37	c.9853C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.790427|11.790427	0.99603|0.99603	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.64402|.	D|.	0.000019|.	.|T	.|0.77356	.|0.4118	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73830	.|-0.3859	.|4	0.35671|.	T|.	0.21|.	.|.	20.6208|20.6208	0.99490|0.99490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	2783;4850;2783;2783;2762;3285|1895	.|.	ENSP00000289893:Q3285X|.	Q|S	+|+	1|2	0|0	MACF1|MACF1	39625634|39625634	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.210000|4.210000	0.58500|0.58500	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CAA|TCA		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		15	144	0	0	0	0.004007	0	15	144				
MIA3	375056	broad.mit.edu	37	1	222802129	222802129	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr1:222802129G>A	ENST00000344922.5	+	4	1592	c.1567G>A	c.(1567-1569)Gat>Aat	p.D523N	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.D523N	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	523					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGCTTATGATGATACAGAAAA	0.423																																							uc001hnl.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1567-1569)GAT>AAT		melanoma inhibitory activity family, member 3							152.0	147.0	149.0					1																	222802129		1903	4104	6007	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222802129G>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1567G>A	1.37:g.222802129G>A	ENSP00000340900:p.Asp523Asn					MIA3_uc009xea.1_Missense_Mutation_p.D359N	p.D523N	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	1576	+			523			Potential.|Extracellular (Potential).		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.1567G>A	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	0.510	-0.867086	0.02590	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831	T;T	0.04049	3.72;3.72	3.55	-4.29	0.03721	.	.	.	.	.	T	0.02193	0.0068	N	0.13098	0.295	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.48811	-0.9002	9	0.08837	T	0.75	.	6.0813	0.19942	0.3197:0.272:0.4083:0.0	.	523;523	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	N	523	ENSP00000340900:D523N;ENSP00000340587:D523N	ENSP00000325973:D523N	D	+	1	0	MIA3	220868752	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.087000	0.14958	-0.763000	0.04658	-0.680000	0.03767	GAT		0.423	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		16	153	0	0	0	0.004007	0	16	153				
OBSCN	84033	broad.mit.edu	37	1	228471293	228471293	+	Missense_Mutation	SNP	G	G	A	rs201995625	byFrequency	TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr1:228471293G>A	ENST00000422127.1	+	33	8871	c.8827G>A	c.(8827-8829)Gcg>Acg	p.A2943T	OBSCN_ENST00000366707.4_Missense_Mutation_p.A62T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A2943T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A62T|OBSCN_ENST00000359599.6_Missense_Mutation_p.A1790T|OBSCN_ENST00000570156.2_Missense_Mutation_p.A3372T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2943	Ig-like 29.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGCACCCCGCGGCCACAGT	0.632													g|||	6	0.00119808	0.0	0.0	5008	,	,		18715	0.006		0.0	False		,,,				2504	0.0						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(8827-8829)GCG>ACG		obscurin, cytoskeletal calmodulin and			THR/ALA,THR/ALA	3,4245		0,3,2121	34.0	40.0	38.0		8827,8827	4.8	0.0	1		38	0,8476		0,0,4238	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	58,58	0,3,6359	AA,AG,GG		0.0,0.0706,0.0236	probably-damaging,probably-damaging	2943/7969,2943/6621	228471293	3,12721	2124	4238	6362	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228471293G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.8827G>A	1.37:g.228471293G>A	ENSP00000409493:p.Ala2943Thr					OBSCN_uc001hsn.2_Missense_Mutation_p.A2943T|OBSCN_uc001hsp.1_Missense_Mutation_p.A642T|OBSCN_uc001hsq.1_Missense_Mutation_p.A199T	p.A2943T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			33	8871	+		Prostate(94;0.0405)	2943			Ig-like 29.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.8827G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	g	18.96	3.733191	0.69189	7.06E-4	0.0	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599;ENST00000366706;ENST00000366704	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.67	4.75	0.60458	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.436377	0.21875	N	0.067825	T	0.68751	0.3035	L	0.47016	1.485	0.09310	N	1	D;P;D	0.76494	0.98;0.885;0.999	P;B;D	0.64877	0.874;0.188;0.93	T	0.60500	-0.7251	10	0.11794	T	0.64	.	14.5029	0.67734	0.0707:0.0:0.9293:0.0	.	2943;2943;2943	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	T	2943;2943;62;62;1790;642;349	ENSP00000284548:A2943T;ENSP00000409493:A2943T;ENSP00000355668:A62T;ENSP00000355670:A62T;ENSP00000352613:A1790T	ENSP00000284548:A2943T	A	+	1	0	OBSCN	226537916	0.971000	0.33674	0.002000	0.10522	0.003000	0.03518	5.290000	0.65661	1.386000	0.46466	0.550000	0.68814	GCG		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	38	0	0	0	0.021553	0	6	38				
SLIT1	6585	broad.mit.edu	37	10	98770874	98770874	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr10:98770874G>T	ENST00000266058.4	-	31	3462	c.3217C>A	c.(3217-3219)Cca>Aca	p.P1073T	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.P1073T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1073	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCATAACCTGGCATGCACTCA	0.612																																							uc001kmw.2		NA																	0				ovary(4)	4						c.(3217-3219)CCA>ACA		slit homolog 1 precursor							84.0	55.0	65.0					10																	98770874		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98770874G>T	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.3217C>A	10.37:g.98770874G>T	ENSP00000266058:p.Pro1073Thr						p.P1073T	NM_003061	NP_003052	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	31	3469	-		Colorectal(252;0.162)	1073			EGF-like 4.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.3217C>A	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851827	0.51270	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.87256	-2.23;-2.23	4.9	2.99	0.34606	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.360565	0.32081	N	0.006610	D	0.90363	0.6984	M	0.71206	2.165	0.80722	D	1	D	0.59767	0.986	P	0.60609	0.877	D	0.89031	0.3442	10	0.51188	T	0.08	.	9.976	0.41783	0.0724:0.0:0.7897:0.1378	.	1073	O75093	SLIT1_HUMAN	T	1073	ENSP00000266058:P1073T;ENSP00000360109:P1073T	ENSP00000266058:P1073T	P	-	1	0	SLIT1	98760864	1.000000	0.71417	0.008000	0.14137	0.784000	0.44337	5.866000	0.69590	0.740000	0.32651	0.555000	0.69702	CCA		0.612	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		14	23	1	0	4.36969e-10	0.016723	4.68749e-10	14	23				
DMBT1	1755	broad.mit.edu	37	10	124399750	124399750	+	Silent	SNP	T	T	C			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr10:124399750T>C	ENST00000338354.3	+	52	6856	c.6750T>C	c.(6748-6750)taT>taC	p.Y2250Y	DMBT1_ENST00000368909.3_Silent_p.Y2250Y|DMBT1_ENST00000344338.3_Silent_p.Y2240Y|DMBT1_ENST00000359586.6_Silent_p.Y970Y|DMBT1_ENST00000330163.4_Silent_p.Y1622Y|DMBT1_ENST00000368955.3_Silent_p.Y2240Y|DMBT1_ENST00000368956.2_Silent_p.Y1622Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2250	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AAGTCCAGTATGGCAATTTTG	0.473																																					Ovarian(182;93 2026 18125 22222 38972)	Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(6748-6750)TAT>TAC		deleted in malignant brain tumors 1 isoform b							275.0	259.0	264.0					10																	124399750		2048	4189	6237	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124399750T>C		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6750T>C	10.37:g.124399750T>C						DMBT1_uc001lgl.1_Silent_p.Y2240Y|DMBT1_uc001lgm.1_Silent_p.Y1622Y|DMBT1_uc009xzz.1_Silent_p.Y2249Y|DMBT1_uc010qtx.1_Silent_p.Y970Y|DMBT1_uc009yab.1_Silent_p.Y953Y|DMBT1_uc009yac.1_Silent_p.Y544Y	p.Y2250Y	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			52	6856	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2250			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.6750T>C																																																																																					0.473	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		58	84	0	0	0	0.01441	0	58	84				
MYO7A	4647	broad.mit.edu	37	11	76905531	76905531	+	Missense_Mutation	SNP	G	G	C	rs374171831		TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr11:76905531G>C	ENST00000409709.3	+	32	4557	c.4285G>C	c.(4285-4287)Gag>Cag	p.E1429Q	MYO7A_ENST00000458637.2_Missense_Mutation_p.E1429Q|MYO7A_ENST00000409619.2_Missense_Mutation_p.E1418Q	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1429	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAAGACGCTGGAGAAGTGGGC	0.592																																							uc001oyb.2		NA																	0				ovary(3)|breast(1)	4						c.(4285-4287)GAG>CAG		myosin VIIA isoform 1							34.0	37.0	36.0					11																	76905531		1990	4144	6134	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76905531G>C	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4285G>C	11.37:g.76905531G>C	ENSP00000386331:p.Glu1429Gln					MYO7A_uc010rsm.1_Missense_Mutation_p.E1418Q|MYO7A_uc001oyc.2_Missense_Mutation_p.E1429Q|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.E640Q	p.E1429Q	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			32	4557	+			1429			FERM 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.4285G>C	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930756	0.92389	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	4.85	4.85	0.62838	FERM central domain (1);Band 4.1 domain (1);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.95319	0.8481	M	0.78637	2.42	0.80722	D	1	P;D;P	0.55800	0.919;0.973;0.955	P;P;P	0.58928	0.709;0.848;0.709	D	0.95512	0.8587	10	0.56958	D	0.05	.	18.3266	0.90256	0.0:0.0:1.0:0.0	.	1418;1429;1429	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	Q	1429;1429;1418;640;1428;1398;1305;610;82	ENSP00000386331:E1429Q;ENSP00000392185:E1429Q;ENSP00000386635:E1418Q;ENSP00000417017:E610Q	ENSP00000345075:E1305Q	E	+	1	0	MYO7A	76583179	1.000000	0.71417	0.959000	0.39883	0.976000	0.68499	9.349000	0.97066	2.420000	0.82092	0.603000	0.83216	GAG		0.592	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		4	13	0	0	0	0.009096	0	4	13				
FAT3	120114	broad.mit.edu	37	11	92523337	92523337	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr11:92523337G>A	ENST00000298047.6	+	7	4581	c.4564G>A	c.(4564-4566)Gag>Aag	p.E1522K	FAT3_ENST00000525166.1_Missense_Mutation_p.E1372K|FAT3_ENST00000409404.2_Missense_Mutation_p.E1522K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1522	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTATACTGCCGAGAGGCTGGA	0.498										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(4564-4566)GAG>AAG		FAT tumor suppressor homolog 3							153.0	148.0	149.0					11																	92523337		2023	4193	6216	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92523337G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4564G>A	11.37:g.92523337G>A	ENSP00000298047:p.Glu1522Lys	TCGA Ovarian(4;0.039)					p.E1522K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			7	4581	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1522			Cadherin 14.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4564G>A		.	.	.	.	.	.	.	.	.	.	G	21.0	4.083056	0.76642	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.44881	0.91;0.91;0.91	6.17	6.17	0.99709	.	.	.	.	.	T	0.37652	0.1011	L	0.35593	1.075	0.80722	D	1	P	0.49961	0.93	B	0.41412	0.356	T	0.03795	-1.1003	9	0.26408	T	0.33	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1522	Q8TDW7-3	.	K	1522;1522;1372	ENSP00000298047:E1522K;ENSP00000387040:E1522K;ENSP00000432586:E1372K	ENSP00000298047:E1522K	E	+	1	0	FAT3	92162985	1.000000	0.71417	0.901000	0.35422	0.140000	0.21249	5.116000	0.64661	2.941000	0.99782	0.655000	0.94253	GAG		0.498	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		14	134	0	0	0	0.016723	0	14	134				
SMUG1	23583	broad.mit.edu	37	12	54576152	54576152	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr12:54576152C>T	ENST00000508394.2	-	3	603	c.541G>A	c.(541-543)Gag>Aag	p.E181K	SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000513838.1_Intron|SMUG1_ENST00000401977.2_Missense_Mutation_p.E181K|SMUG1_ENST00000337581.3_Missense_Mutation_p.E181K|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000506595.1_Intron	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	181	DNA binding. {ECO:0000250}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA repair (GO:0006281)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA N-glycosylase activity (GO:0019104)|oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity (GO:0000703)|single-strand selective uracil DNA N-glycosylase activity (GO:0017065)|uracil DNA N-glycosylase activity (GO:0004844)			kidney(1)|large_intestine(4)|lung(1)	6						GCAGGCAGCTCAGCAGGAGTA	0.602								Base excision repair (BER), DNA glycosylases																															uc001sff.1		NA																	0					0						c.(541-543)GAG>AAG	BER_DNA_glycosylases	single-strand-selective monofunctional							70.0	74.0	73.0					12																	54576152		2203	4300	6503	SO:0001583	missense	23583				depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity	g.chr12:54576152C>T	AF125182	CCDS8874.1, CCDS58239.1	12q13.13	2013-10-28			ENSG00000123415	ENSG00000123415			17148	protein-coding gene	gene with protein product		607753				10074426, 11526119	Standard	NM_014311		Approved	UNG3, FDG, HMUDG	uc009znf.2	Q53HV7	OTTHUMG00000160068	ENST00000508394.2:c.541G>A	12.37:g.54576152C>T	ENSP00000424191:p.Glu181Lys					SMUG1_uc001sfa.1_RNA|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Missense_Mutation_p.E181K|SMUG1_uc009znf.1_Missense_Mutation_p.E181K|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron	p.E181K	NM_014311	NP_055126	Q53HV7	SMUG1_HUMAN			4	670	-			181			DNA binding (By similarity).		A8K2K9|O95862|Q0D2M0|Q8NB71|Q9BWC8	Missense_Mutation	SNP	ENST00000508394.2	37	c.541G>A	CCDS8874.1	.	.	.	.	.	.	.	.	.	.	C	8.976	0.974263	0.18736	.	.	ENSG00000123415	ENST00000337581;ENST00000508394;ENST00000401977	T;T;T	0.52526	0.66;0.66;0.66	4.86	4.86	0.63082	Uracil-DNA glycosylase-like (3);	0.303245	0.40302	N	0.001135	T	0.31295	0.0792	N	0.16567	0.415	0.80722	D	1	B	0.18166	0.026	B	0.20955	0.032	T	0.12553	-1.0543	10	0.07175	T	0.84	.	17.1702	0.86827	0.0:1.0:0.0:0.0	.	181	Q53HV7	SMUG1_HUMAN	K	181	ENSP00000338606:E181K;ENSP00000424191:E181K;ENSP00000384828:E181K	ENSP00000338606:E181K	E	-	1	0	SMUG1	52862419	1.000000	0.71417	0.727000	0.30756	0.956000	0.61745	6.797000	0.75150	2.415000	0.81967	0.563000	0.77884	GAG		0.602	SMUG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359074.3	NM_014311		11	86	0	0	0	0.010729	0	11	86				
ANKLE2	23141	broad.mit.edu	37	12	133311158	133311158	+	Silent	SNP	C	C	T			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr12:133311158C>T	ENST00000357997.5	-	10	1793	c.1704G>A	c.(1702-1704)gaG>gaA	p.E568E	ANKLE2_ENST00000539605.1_Silent_p.E506E|ANKLE2_ENST00000542282.1_5'Flank|ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000337516.5_Silent_p.E568E|ANKLE2_ENST00000542657.1_5'Flank	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	568					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CATGAGCTAGCTCCCTGTAAG	0.423																																							uc001ukx.2		NA																	0					0						c.(1702-1704)GAG>GAA		ankyrin repeat and LEM domain containing 2							102.0	106.0	104.0					12																	133311158		1834	4097	5931	SO:0001819	synonymous_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133311158C>T	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1704G>A	12.37:g.133311158C>T						ANKLE2_uc009zyw.1_5'UTR|ANKLE2_uc001uky.3_Silent_p.E506E	p.E568E	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	10	1771	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	568					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	ENST00000357997.5	37	c.1704G>A	CCDS41869.1																																																																																				0.423	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			65	159	0	0	0	0.01441	0	65	159				
SERPINA13P	388007	broad.mit.edu	37	14	95108198	95108198	+	RNA	SNP	G	G	A			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr14:95108198G>A	ENST00000469935.1	+	0	803					NR_015340.1		Q6UXR4	SPA13_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)										CCTCGGCAGTGAAACCACAGC	0.562																																							uc001ydt.2		NA																	0				lung(1)|skin(1)	2						c.(715-717)GAA>AAA		RecName: Full=Serpin A13; Flags: Precursor;							75.0	85.0	82.0					14																	95108198		2203	4300	6503			388007							g.chr14:95108198G>A	AY358238		14q32.13	2014-02-18	2012-10-03	2012-10-03	ENSG00000187483	ENSG00000187483		"""Serine (or cysteine) peptidase inhibitors"""	30909	pseudogene	pseudogene			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"""	SERPINA13		15014966, 16395595, 24172014	Standard	NR_015340		Approved	UNQ6121	uc001ydt.3	Q6UXR4	OTTHUMG00000150191		14.37:g.95108198G>A							p.E239K	NR_015340						2	803	+									Missense_Mutation	SNP	ENST00000469935.1	37	c.715G>A																																																																																					0.562	SERPINA13P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316754.1	NR_015340		19	98	0	0	0	0.012319	0	19	98				
CCNK	8812	broad.mit.edu	37	14	99969230	99969230	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr14:99969230C>T	ENST00000389879.5	+	8	1043	c.920C>T	c.(919-921)cCc>cTc	p.P307L	CCNK_ENST00000555049.1_Missense_Mutation_p.P307L	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	307					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CAGAAGGACCCCCAGCAACCA	0.622																																							uc001ygi.3		NA																	0					0						c.(919-921)CCC>CTC		cyclin K isoform 1							87.0	120.0	109.0					14																	99969230		2116	4258	6374	SO:0001583	missense	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99969230C>T	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.920C>T	14.37:g.99969230C>T	ENSP00000374529:p.Pro307Leu					CCNK_uc001ygg.3_Splice_Site_p.D306_splice	p.P307L	NM_001099402	NP_001092872	O75909	CCNK_HUMAN			8	1050	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	307					Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	ENST00000389879.5	37	c.920C>T	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267422	0.40095	.	.	ENSG00000090061	ENST00000437596;ENST00000216279;ENST00000380246;ENST00000389879;ENST00000555049	T;D	0.92699	2.16;-3.09	5.95	1.6	0.23607	.	1.756800	0.03087	N	0.159224	D	0.86020	0.5833	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.71097	-0.4691	10	0.23302	T	0.38	0.1813	7.7726	0.29017	0.0:0.6513:0.1584:0.1903	.	307	O75909	CCNK_HUMAN	L	307;309;309;307;307	ENSP00000374529:P307L;ENSP00000452307:P307L	ENSP00000216279:P309L	P	+	2	0	CCNK	99038983	0.001000	0.12720	0.014000	0.15608	0.652000	0.38707	1.565000	0.36386	0.273000	0.22049	-0.136000	0.14681	CCC		0.622	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			13	89	0	0	0	0.016723	0	13	89				
DENND4A	10260	broad.mit.edu	37	15	65959865	65959865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr15:65959865C>T	ENST00000431932.2	-	28	5239	c.5031G>A	c.(5029-5031)tgG>tgA	p.W1677*	DENND4A_ENST00000443035.3_Nonsense_Mutation_p.W1720*	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1677					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GTCTGAAATACCATACCAGGT	0.368																																							uc002aph.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(5029-5031)TGG>TGA		DENN/MADD domain containing 4A isoform 2							114.0	109.0	111.0					15																	65959865		1864	4111	5975	SO:0001587	stop_gained	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:65959865C>T	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5031G>A	15.37:g.65959865C>T	ENSP00000396830:p.Trp1677*					DENND4A_uc002api.2_Nonsense_Mutation_p.W1720*	p.W1677*	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN			28	5409	-			1677					E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Nonsense_Mutation	SNP	ENST00000431932.2	37	c.5031G>A	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	45	12.033850	0.99629	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.37	5.37	0.77165	.	0.162428	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4692	0.94956	0.0:1.0:0.0:0.0	.	.	.	.	X	1720;1677	.	ENSP00000396830:W1677X	W	-	3	0	DENND4A	63746919	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.662000	0.83803	2.661000	0.90470	0.555000	0.69702	TGG		0.368	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		8	42	0	0	0	0.00308	0	8	42				
LMAN1L	79748	broad.mit.edu	37	15	75116699	75116699	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr15:75116699C>T	ENST00000309664.5	+	13	1470	c.1331C>T	c.(1330-1332)gCa>gTa	p.A444V	LMAN1L_ENST00000379709.3_Missense_Mutation_p.A432V|RP11-414J4.2_ENST00000564823.1_RNA|CPLX3_ENST00000395018.4_5'Flank	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	444						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGAAGGCAGCAGCCAAGGCC	0.587																																							uc002ayt.1		NA																	0					0						c.(1330-1332)GCA>GTA		lectin, mannose-binding, 1 like precursor							104.0	113.0	110.0					15																	75116699		2197	4295	6492	SO:0001583	missense	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75116699C>T	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1331C>T	15.37:g.75116699C>T	ENSP00000310431:p.Ala444Val					LMAN1L_uc010bke.1_Missense_Mutation_p.A432V|CPLX3_uc002ayu.1_5'Flank	p.A444V	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN			13	1333	+			444			Lumenal (Potential).		Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	c.1331C>T	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	c	13.81	2.348428	0.41599	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.39592	1.09;1.07	4.82	1.9	0.25705	.	1.121610	0.06738	N	0.777819	T	0.35098	0.0920	L	0.39898	1.24	0.09310	N	1	P;B	0.40731	0.728;0.437	B;B	0.40901	0.343;0.186	T	0.21075	-1.0256	10	0.37606	T	0.19	.	5.7967	0.18392	0.0:0.675:0.1558:0.1692	.	432;444	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	V	444;432	ENSP00000310431:A444V;ENSP00000369031:A432V	ENSP00000310431:A444V	A	+	2	0	LMAN1L	72903752	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.858000	0.27845	0.215000	0.20761	-1.297000	0.01338	GCA		0.587	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			51	65	0	0	0	0.01441	0	51	65				
TP53	7157	broad.mit.edu	37	17	7578388	7578388	+	Missense_Mutation	SNP	C	C	T	rs397514495		TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr17:7578388C>T	ENST00000269305.4	-	5	731	c.542G>A	c.(541-543)cGc>cAc	p.R181H	TP53_ENST00000420246.2_Missense_Mutation_p.R181H|TP53_ENST00000455263.2_Missense_Mutation_p.R181H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R181H|TP53_ENST00000413465.2_Missense_Mutation_p.R181H|TP53_ENST00000445888.2_Missense_Mutation_p.R181H	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	181	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (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.R181H(21)|p.R181P(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.R181L(3)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R49P(1)|p.C176fs*65(1)|p.R181C(1)|p.V173fs*23(1)|p.R181>XXXXXXX(1)|p.R88P(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(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)	ATCTGAGCAGCGCTCATGGTG	0.637		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)	Pancreas(47;798 1329 9957 10801)	uc002gim.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		80	Substitution - Missense(41)|Deletion - In frame(17)|Deletion - Frameshift(13)|Whole gene deletion(8)|Complex - insertion inframe(1)	p.R181H(20)|p.R181P(14)|p.R181C(13)|p.P177_C182delPHHERC(8)|p.0?(7)|p.R181L(3)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.R181R(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.K164_P219del(1)|p.R49P(1)|p.C176fs*65(1)|p.R181G(1)|p.V173fs*23(1)|p.R181>XXXXXXX(1)|p.R88P(1)|p.R81fs*24(1)|p.R42fs*24(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(1)	large_intestine(17)|upper_aerodigestive_tract(14)|ovary(7)|central_nervous_system(6)|lung(6)|bone(5)|breast(5)|oesophagus(4)|urinary_tract(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|pancreas(2)|prostate(2)|kidney(1)|biliary_tract(1)|endometrium(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM056067|CM920671|CM942120	TP53	M		c.(541-543)CGC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	47.0	47.0					17																	7578388		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578388C>T	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.542G>A	17.37:g.7578388C>T	ENSP00000269305:p.Arg181His	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_uc002gig.1_Missense_Mutation_p.R181H|TP53_uc002gih.2_Missense_Mutation_p.R181H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R49H|TP53_uc010cng.1_Missense_Mutation_p.R49H|TP53_uc002gii.1_Missense_Mutation_p.R49H|TP53_uc010cnh.1_Missense_Mutation_p.R181H|TP53_uc010cni.1_Missense_Mutation_p.R181H|TP53_uc002gij.2_Missense_Mutation_p.R181H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R88H|TP53_uc002gio.2_Missense_Mutation_p.R49H|TP53_uc010vug.1_Missense_Mutation_p.R142H	p.R181H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	736	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	181		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.542G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821159	0.71028	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99771	-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71;-6.71	5.26	4.28	0.50868	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99632	0.9865	M	0.69523	2.12	0.49389	D	0.999785	D;D;D;D;D;D;D	0.89917	0.998;0.999;0.996;0.999;0.992;0.999;1.0	P;D;P;P;D;D;D	0.69824	0.875;0.928;0.822;0.842;0.942;0.966;0.938	D	0.97702	1.0185	10	0.87932	D	0	-14.2374	13.4086	0.60929	0.1583:0.8417:0.0:0.0	.	142;181;181;88;181;181;181	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	181;181;181;181;181;181;170;88;49;88;49	ENSP00000410739:R181H;ENSP00000352610:R181H;ENSP00000269305:R181H;ENSP00000398846:R181H;ENSP00000391127:R181H;ENSP00000391478:R181H;ENSP00000425104:R49H;ENSP00000423862:R88H	ENSP00000269305:R181H	R	-	2	0	TP53	7519113	0.764000	0.28473	0.996000	0.52242	0.802000	0.45316	1.201000	0.32259	1.345000	0.45676	0.563000	0.77884	CGC		0.637	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	19	0	0	0	0.00499	0	15	19				
ATP8B1	5205	broad.mit.edu	37	18	55355661	55355661	+	Silent	SNP	G	G	A	rs202128847	byFrequency	TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr18:55355661G>A	ENST00000283684.4	-	12	1298	c.1299C>T	c.(1297-1299)ccC>ccT	p.P433P	RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Silent_p.P433P|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	433					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TAGCTTTTGCGGGTGTGTCCT	0.443													G|||	3	0.000599042	0.0008	0.0	5008	,	,		20260	0.0		0.002	False		,,,				2504	0.0						uc002lgw.2		NA																	0				breast(5)|ovary(2)|central_nervous_system(2)|lung(1)	10						c.(1297-1299)CCC>CCT		ATPase, class I, type 8B, member 1							275.0	249.0	258.0					18																	55355661		2203	4300	6503	SO:0001819	synonymous_variant	5205	Byler_disease			ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:55355661G>A	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.1299C>T	18.37:g.55355661G>A						uc002lgv.1_Intron	p.P433P	NM_005603	NP_005594	O43520	AT8B1_HUMAN			12	1299	-		Colorectal(73;0.229)	433			Cytoplasmic (Potential).		Q9BTP8	Silent	SNP	ENST00000283684.4	37	c.1299C>T	CCDS11965.1																																																																																				0.443	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603		35	42	0	0	0	0.00623	0	35	42				
MUC16	94025	broad.mit.edu	37	19	8971691	8971691	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr19:8971691C>T	ENST00000397910.4	-	78	43104	c.42901G>A	c.(42901-42903)Gac>Aac	p.D14301N	MUC16_ENST00000596956.1_5'Flank|MUC16_ENST00000380951.5_Missense_Mutation_p.D942N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14396	SEA 15. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACATGGATGTCCACCAACTGG	0.527																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(42901-42903)GAC>AAC		mucin 16							73.0	74.0	74.0					19																	8971691		1922	4133	6055	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8971691C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42901G>A	19.37:g.8971691C>T	ENSP00000381008:p.Asp14301Asn					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.D1101N|MUC16_uc010xki.1_RNA	p.D14301N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			78	43105	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.42901G>A	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.27|13.27	2.187019|2.187019	0.38609|0.38609	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.33438|.	1.41;1.41|.	3.99|3.99	2.95|2.95	0.34219|0.34219	.|.	0.000000|.	0.43747|.	D|.	0.000522|.	T|.	0.34193|.	0.0889|.	N|N	0.22421|0.22421	0.69|0.69	.|.	.|.	.|.	D;P|.	0.76494|.	0.999;0.954|.	D;D|.	0.68765|.	0.96;0.954|.	T|.	0.36578|.	-0.9742|.	9|.	0.62326|.	D|.	0.03|.	.|.	6.889|6.889	0.24218|0.24218	0.0:0.8761:0.0:0.1239|0.0:0.8761:0.0:0.1239	.|.	21946;14301|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	N|X	14301;942|1123	ENSP00000381008:D14301N;ENSP00000370338:D942N|.	ENSP00000370338:D942N|.	D|W	-|-	1|3	0|0	MUC16|MUC16	8832691|8832691	0.020000|0.020000	0.18652|0.18652	0.024000|0.024000	0.17045|0.17045	0.009000|0.009000	0.06853|0.06853	1.655000|1.655000	0.37345|0.37345	2.219000|2.219000	0.72066|0.72066	0.591000|0.591000	0.81541|0.81541	GAC|TGG		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	29	0	0	0	0.004007	0	15	29				
ICAM5	7087	broad.mit.edu	37	19	10403476	10403476	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr19:10403476G>C	ENST00000221980.4	+	5	1213	c.1150G>C	c.(1150-1152)Gac>Cac	p.D384H		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	384	Ig-like C2-type 4.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CTTCTTCTGCGACGCCACCCT	0.622																																							uc002mnu.3		NA																	0				breast(3)	3						c.(1150-1152)GAC>CAC		intercellular adhesion molecule 5 precursor							51.0	55.0	54.0					19																	10403476		2203	4300	6503	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10403476G>C	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1150G>C	19.37:g.10403476G>C	ENSP00000221980:p.Asp384His					ICAM5_uc002mnv.3_Missense_Mutation_p.D259H	p.D384H	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		5	1215	+			384			Extracellular (Potential).|Ig-like C2-type 4.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.1150G>C	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760578	0.49468	.	.	ENSG00000105376	ENST00000221980	T	0.05447	3.44	5.46	3.29	0.37713	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.904210	0.09520	N	0.791081	T	0.13884	0.0336	L	0.57536	1.79	0.32001	N	0.60338	B	0.33171	0.4	P	0.46885	0.53	T	0.17592	-1.0364	10	0.40728	T	0.16	-17.4127	7.0175	0.24897	0.0885:0.0:0.7415:0.17	.	384	Q9UMF0	ICAM5_HUMAN	H	384	ENSP00000221980:D384H	ENSP00000221980:D384H	D	+	1	0	ICAM5	10264476	0.688000	0.27680	0.975000	0.42487	0.188000	0.23474	0.751000	0.26348	0.647000	0.30713	-0.254000	0.11334	GAC		0.622	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		8	30	0	0	0	0.004482	0	8	30				
MED29	55588	broad.mit.edu	37	19	39879634	39879634	+	5'Flank	SNP	G	G	T			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr19:39879634G>T	ENST00000599213.2	+	0	0				PAF1_ENST00000595564.1_Missense_Mutation_p.P187T|MED29_ENST00000594368.1_5'Flank|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221265.3_Missense_Mutation_p.P197T|PAF1_ENST00000221266.7_Intron			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GTGACTCGGGGTTTGCTGTAA	0.552																																							uc002old.2		NA																	0				pancreas(1)	1						c.(589-591)CCC>ACC		Paf1, RNA polymerase II associated factor,							152.0	147.0	149.0					19																	39879634		2203	4300	6503	SO:0001631	upstream_gene_variant	54623				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr19:39879634G>T	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39879634G>T	Exception_encountered					PAF1_uc002ole.1_Missense_Mutation_p.P187T|PAF1_uc010xuv.1_RNA|MED29_uc010xuw.1_5'Flank|MED29_uc002olf.2_5'Flank|MED29_uc010xux.1_5'Flank	p.P197T	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		8	764	-	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		197					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.589C>A		.	.	.	.	.	.	.	.	.	.	G	20.4	3.984270	0.74474	.	.	ENSG00000006712	ENST00000221265;ENST00000416728	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.79868	0.4520	M	0.77486	2.375	0.58432	D	0.999999	D	0.71674	0.998	D	0.77004	0.989	T	0.81387	-0.0956	9	0.62326	D	0.03	-11.921	17.09	0.86619	0.0:0.0:1.0:0.0	.	197	Q8N7H5	PAF1_HUMAN	T	197;144	.	ENSP00000221265:P197T	P	-	1	0	PAF1	44571474	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.375000	0.97178	2.630000	0.89119	0.563000	0.77884	CCC		0.552	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		26	67	1	0	9.39395e-14	0.00632	1.02638e-13	26	67				
CYP2A7	1549	broad.mit.edu	37	19	41386439	41386439	+	Silent	SNP	C	C	T	rs139522441		TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr19:41386439C>T	ENST00000301146.4	-	3	979	c.438G>A	c.(436-438)gaG>gaA	p.E146E	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.E95E	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	146						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGATGCGCTCCTCGATGCCTC	0.667																																							uc002opm.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(436-438)GAG>GAA		cytochrome P450, family 2, subfamily A,							45.0	40.0	42.0					19																	41386439		2202	4300	6502	SO:0001819	synonymous_variant	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41386439C>T	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.438G>A	19.37:g.41386439C>T						CYP2A7_uc002opo.2_Silent_p.E146E|CYP2A7_uc002opn.2_Silent_p.E95E	p.E146E	NM_000764	NP_000755	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	980	-			146					Q13121	Silent	SNP	ENST00000301146.4	37	c.438G>A	CCDS12569.1																																																																																				0.667	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		15	10	0	0	0	0.003163	0	15	10				
CEACAM7	1087	broad.mit.edu	37	19	42190882	42190882	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr19:42190882T>C	ENST00000006724.3	-	2	536	c.335A>G	c.(334-336)aAc>aGc	p.N112S	CEACAM7_ENST00000338196.4_Missense_Mutation_p.N112S|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.N112S|CEACAM7_ENST00000602225.1_Missense_Mutation_p.N112S	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	112	Ig-like V-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GTGGGTGACGTTCTGGATCAG	0.413																																							uc002ori.1		NA																	0				ovary(2)	2						c.(334-336)AAC>AGC		carcinoembryonic antigen-related cell adhesion							200.0	200.0	200.0					19																	42190882		2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42190882T>C	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.335A>G	19.37:g.42190882T>C	ENSP00000006724:p.Asn112Ser					CEACAM7_uc010ehx.2_Missense_Mutation_p.N112S|CEACAM7_uc010ehy.1_Missense_Mutation_p.N112S	p.N112S	NM_006890	NP_008821	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	2	337	-			112			Ig-like V-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.335A>G	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473997	0.26423	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.67698	-0.28;-0.28;-0.28	1.68	-3.16	0.05217	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66470	0.2792	L	0.57130	1.785	0.09310	N	1	B;P	0.44478	0.22;0.836	B;P	0.56700	0.083;0.804	T	0.58335	-0.7654	9	0.56958	D	0.05	.	0.1796	0.00122	0.2286:0.169:0.2321:0.3703	.	112;112	Q14002-2;Q14002	.;CEAM7_HUMAN	S	112;91;112;112	ENSP00000006724:N112S;ENSP00000385932:N112S;ENSP00000343286:N112S	ENSP00000006724:N112S	N	-	2	0	CEACAM7	46882722	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.263000	0.18478	-1.045000	0.03250	-0.736000	0.03550	AAC		0.413	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		17	114	0	0	0	0.008871	0	17	114				
SLC8A1	6546	broad.mit.edu	37	2	40657206	40657206	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr2:40657206C>A	ENST00000403092.1	-	2	248	c.215G>T	c.(214-216)gGg>gTg	p.G72V	SLC8A1_ENST00000405901.3_Missense_Mutation_p.G72V|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G72V|SLC8A1_ENST00000406785.2_Missense_Mutation_p.G72V|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G72V|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G72V|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G72V|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G72V|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G72V|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G72V			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	72					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AATTTTGTCCCCAAAAGAAGG	0.423																																							uc002rrx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(214-216)GGG>GTG		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						99.0	99.0	99.0					2																	40657206		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40657206C>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.215G>T	2.37:g.40657206C>A	ENSP00000384763:p.Gly72Val					SLC8A1_uc002rry.2_Missense_Mutation_p.G72V|SLC8A1_uc002rrz.2_Missense_Mutation_p.G72V|SLC8A1_uc002rsa.2_Missense_Mutation_p.G72V|SLC8A1_uc002rsd.3_Missense_Mutation_p.G72V|SLC8A1_uc002rsb.1_Missense_Mutation_p.G72V|SLC8A1_uc010fan.1_Missense_Mutation_p.G72V|SLC8A1_uc002rsc.1_Missense_Mutation_p.G72V	p.G72V	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	239	-			72			Extracellular (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.215G>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347018	0.61183	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000542640;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024;ENST00000455476;ENST00000448531;ENST00000417271	T;T;T;T;T;T;T;T;T;T	0.30448	1.55;1.57;1.57;1.57;1.55;1.55;1.57;1.53;1.55;1.55	5.59	5.59	0.84812	.	0.049059	0.85682	D	0.000000	T	0.56381	0.1981	M	0.72118	2.19	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.582;0.982	D;D;D;B;P	0.87578	0.991;0.998;0.991;0.331;0.798	T	0.56341	-0.7995	10	0.56958	D	0.05	.	17.1057	0.86662	0.0:1.0:0.0:0.0	.	72;72;72;72;72	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	V	72	ENSP00000383886:G72V;ENSP00000440727:G72V;ENSP00000384763:G72V;ENSP00000385678:G72V;ENSP00000385188:G72V;ENSP00000385535:G72V;ENSP00000332931:G72V;ENSP00000384908:G72V;ENSP00000385811:G72V;ENSP00000443515:G72V	ENSP00000332931:G72V	G	-	2	0	SLC8A1	40510710	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.663000	0.83820	2.648000	0.89879	0.563000	0.77884	GGG		0.423	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		19	43	1	0	1.15919e-05	0.008871	1.17917e-05	19	43				
ASTL	431705	broad.mit.edu	37	2	96799269	96799269	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr2:96799269C>T	ENST00000342380.2	-	5	349	c.350G>A	c.(349-351)cGc>cAc	p.R117H		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.R117H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GATGACCTGGCGGCTGGGCTC	0.567																																							uc010yui.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(349-351)CGC>CAC		astacin-like metalloendopeptidase precursor							70.0	64.0	66.0					2																	96799269		2203	4300	6503	SO:0001583	missense	431705				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr2:96799269C>T	AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.350G>A	2.37:g.96799269C>T	ENSP00000343674:p.Arg117His						p.R117H	NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN			5	350	-			117						Missense_Mutation	SNP	ENST00000342380.2	37	c.350G>A	CCDS33249.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731297	0.48939	.	.	ENSG00000188886	ENST00000342380	T	0.65916	-0.18	5.29	2.38	0.29361	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.45361	D	0.000362	T	0.73218	0.3559	M	0.79123	2.44	0.35097	D	0.764861	D	0.89917	1.0	D	0.70935	0.971	T	0.76916	-0.2782	10	0.72032	D	0.01	-9.5987	5.3559	0.16061	0.1592:0.6641:0.0:0.1767	.	117	Q6HA08	ASTL_HUMAN	H	117	ENSP00000343674:R117H	ENSP00000343674:R117H	R	-	2	0	ASTL	96162996	0.426000	0.25506	0.653000	0.29593	0.206000	0.24218	0.381000	0.20619	0.579000	0.29504	0.644000	0.83932	CGC		0.567	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338801.1			16	27	0	0	0	0.003163	0	16	27				
SNRNP200	23020	broad.mit.edu	37	2	96955643	96955643	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr2:96955643C>T	ENST00000323853.5	-	21	2911	c.2834G>A	c.(2833-2835)gGa>gAa	p.G945E	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	945					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CAGGGGATCTCCCTTGAGGTC	0.537																																							uc002svu.2		NA																	0				ovary(5)|skin(4)|large_intestine(1)	10						c.(2833-2835)GGA>GAA		activating signal cointegrator 1 complex subunit							115.0	109.0	111.0					2																	96955643		2203	4300	6503	SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96955643C>T	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.2834G>A	2.37:g.96955643C>T	ENSP00000317123:p.Gly945Glu					SNRNP200_uc002svw.1_Missense_Mutation_p.G17E	p.G945E	NM_014014	NP_054733	O75643	U520_HUMAN			21	2920	-			945					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	ENST00000323853.5	37	c.2834G>A	CCDS2020.1	.	.	.	.	.	.	.	.	.	.	C	9.828	1.187752	0.21954	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.66099	-0.19	5.77	5.77	0.91146	.	0.362461	0.29139	N	0.013026	T	0.29355	0.0731	N	0.00683	-1.26	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36089	-0.9762	10	0.14252	T	0.57	-11.2254	13.6924	0.62553	0.1545:0.8455:0.0:0.0	.	945	O75643	U520_HUMAN	E	945;620	ENSP00000317123:G945E	ENSP00000317123:G945E	G	-	2	0	SNRNP200	96319370	0.859000	0.29813	1.000000	0.80357	0.996000	0.88848	2.842000	0.48230	2.723000	0.93209	0.655000	0.94253	GGA		0.537	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		11	88	0	0	0	0.010729	0	11	88				
RALGAPA2	57186	broad.mit.edu	37	20	20493648	20493649	+	Missense_Mutation	DNP	AG	AG	CC	rs576376554		TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr20:20493648_20493649AG>CC	ENST00000202677.7	-	32	4371_4372	c.4364_4365CT>GG	c.(4363-4365)tCT>tGG	p.S1455W		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1455					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CATCAGAGAGAGAGCCCACTGG	0.48																																							uc002wrz.2		NA																	0				ovary(1)	1						c.(4363-4365)TCT>TGG		akt substrate AS250																																				SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20493648_20493649AG>CC	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4364_4365delinsCC	20.37:g.20493648_20493649delinsCC	ENSP00000202677:p.Ser1455Trp					RALGAPA2_uc010gcx.2_Missense_Mutation_p.S1159W|RALGAPA2_uc010zsg.1_Missense_Mutation_p.S903W|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S227W	p.S1455W	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN			32	4507_4508	-			1455					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	DNP	ENST00000202677.7	37	c.4364_4365CT>GG	CCDS46584.1																																																																																				0.480	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		6	13	0	0	0	0.004672	0	6	13				
CABLES2	81928	broad.mit.edu	37	20	60966386	60966386	+	Silent	SNP	C	C	T			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr20:60966386C>T	ENST00000279101.5	-	9	1223	c.1215G>A	c.(1213-1215)aaG>aaA	p.K405K		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	405					cell cycle (GO:0007049)|cell division (GO:0051301)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)		cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CAGCGCACAGCTTGCGGTTCT	0.637																																							uc002ycv.2		NA																	0				pancreas(1)	1						c.(1213-1215)AAG>AAA		Cdk5 and Abl enzyme substrate 2							87.0	89.0	88.0					20																	60966386		2203	4300	6503	SO:0001819	synonymous_variant	81928				cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity	g.chr20:60966386C>T	BC003122	CCDS33503.1	20q13.33	2004-01-09	2004-01-09	2004-01-09	ENSG00000149679	ENSG00000149679			16143	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 150"""	C20orf150		12477932	Standard	NM_031215		Approved	dJ908M14.2, ik3-2	uc002ycv.2	Q9BTV7	OTTHUMG00000032912	ENST00000279101.5:c.1215G>A	20.37:g.60966386C>T							p.K405K	NM_031215	NP_112492	Q9BTV7	CABL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		9	1222	-	Breast(26;2.05e-08)		405					Q5JWL0|Q9BYK0	Silent	SNP	ENST00000279101.5	37	c.1215G>A	CCDS33503.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446111	0.25987	.	.	ENSG00000149679	ENST00000453274	.	.	.	5.56	2.19	0.27852	.	.	.	.	.	T	0.54367	0.1854	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46512	-0.9186	4	.	.	.	-33.699	6.4442	0.21867	0.0:0.525:0.0:0.475	.	.	.	.	N	199	.	.	S	-	2	0	CABLES2	60399781	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.611000	0.36879	0.696000	0.31696	0.561000	0.74099	AGC		0.637	CABLES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080027.2	XM_037265		35	209	0	0	0	0.019004	0	35	209				
SAMSN1	64092	broad.mit.edu	37	21	15889271	15889271	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr21:15889271G>A	ENST00000400566.1	-	3	302	c.221C>T	c.(220-222)tCa>tTa	p.S74L	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Missense_Mutation_p.S142L	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	74					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CATTGTCCATGAAATAGCTCT	0.343																																							uc002yju.1		NA																	0				ovary(3)|pancreas(1)	4						c.(220-222)TCA>TTA		SAM domain, SH3 domain and nuclear localization							137.0	119.0	124.0					21																	15889271		1796	4069	5865	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15889271G>A	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.221C>T	21.37:g.15889271G>A	ENSP00000383411:p.Ser74Leu					SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.S142L	p.S74L	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	3	303	-			74					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.221C>T	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997105	0.93167	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.55234	0.53;0.53	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.76263	0.3963	M	0.85299	2.745	0.58432	D	0.999999	D;D	0.71674	0.972;0.998	P;D	0.68353	0.797;0.957	T	0.79967	-0.1580	10	0.72032	D	0.01	-20.362	19.3143	0.94206	0.0:0.0:1.0:0.0	.	142;74	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	L	142;74	ENSP00000285670:S142L;ENSP00000383411:S74L	ENSP00000285670:S142L	S	-	2	0	SAMSN1	14811142	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.151000	0.89636	2.570000	0.86706	0.655000	0.94253	TCA		0.343	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			6	30	0	0	0	0.021553	0	6	30				
TCAIM	285343	broad.mit.edu	37	3	44434409	44434409	+	Missense_Mutation	SNP	G	G	C	rs199579461		TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr3:44434409G>C	ENST00000342649.4	+	6	1062	c.635G>C	c.(634-636)aGa>aCa	p.R212T	TCAIM_ENST00000417237.1_Missense_Mutation_p.R212T	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	212						mitochondrion (GO:0005739)											TTGCCACTTAGAAAAGAACTA	0.323																																							uc010him.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(634-636)AGA>ACA		hypothetical protein LOC285343 isoform 1							99.0	102.0	101.0					3																	44434409		2203	4298	6501	SO:0001583	missense	285343					mitochondrion		g.chr3:44434409G>C		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.635G>C	3.37:g.44434409G>C	ENSP00000341539:p.Arg212Thr					C3orf23_uc003cnd.3_Missense_Mutation_p.R212T|C3orf23_uc003cne.3_Missense_Mutation_p.R68T	p.R212T	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	6	880	+			212					A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	37	c.635G>C	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828416	0.90955	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.54071	0.59;0.59	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	M	0.78049	2.395	0.54753	D	0.999989	D	0.89917	1.0	D	0.85130	0.997	T	0.77205	-0.2673	10	0.87932	D	0	.	20.0203	0.97492	0.0:0.0:1.0:0.0	.	212	Q8N3R3	CC023_HUMAN	T	212	ENSP00000402581:R212T;ENSP00000341539:R212T	ENSP00000341539:R212T	R	+	2	0	C3orf23	44409413	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	8.081000	0.89511	2.730000	0.93505	0.655000	0.94253	AGA		0.323	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		9	59	0	0	0	0.004482	0	9	59				
RHO	6010	broad.mit.edu	37	3	129251411	129251411	+	Missense_Mutation	SNP	G	G	C	rs148222991		TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr3:129251411G>C	ENST00000296271.3	+	4	826	c.732G>C	c.(730-732)caG>caC	p.Q244H		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	244					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CCACCACACAGAAGGCAGAGA	0.622																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	Esophageal Squamous(118;214 1623 30842 43234 46940)	uc003emt.2		NA																	0					0						c.(730-732)CAG>CAC		rhodopsin	Halothane(DB01159)						166.0	119.0	135.0					3																	129251411		2203	4300	6503	SO:0001583	missense	6010				protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding	g.chr3:129251411G>C	AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.732G>C	3.37:g.129251411G>C	ENSP00000296271:p.Gln244His						p.Q244H	NM_000539	NP_000530	P08100	OPSD_HUMAN		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	4	827	+		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)	244			Cytoplasmic.		Q16414|Q2M249	Missense_Mutation	SNP	ENST00000296271.3	37	c.732G>C	CCDS3063.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889066	0.91814	.	.	ENSG00000163914	ENST00000296271	T	0.38401	1.14	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.103230	0.64402	D	0.000002	T	0.74366	0.3707	H	0.96576	3.845	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.83703	0.0183	10	0.87932	D	0	.	19.0257	0.92931	0.0:0.0:1.0:0.0	.	244	P08100	OPSD_HUMAN	H	244	ENSP00000296271:Q244H	ENSP00000296271:Q244H	Q	+	3	2	RHO	130734101	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.775000	0.75018	2.595000	0.87683	0.561000	0.74099	CAG		0.622	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356101.1	NM_000539		7	61	0	0	0	0.001984	0	7	61				
EPHB1	2047	broad.mit.edu	37	3	134851754	134851754	+	Missense_Mutation	SNP	C	C	T	rs56396912		TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr3:134851754C>T	ENST00000398015.3	+	5	1530	c.1160C>T	c.(1159-1161)aCg>aTg	p.T387M	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	387	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.		T -> M (in dbSNP:rs56396912). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.T387M(4)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTGGGCCTGACGGAGTGCCGC	0.612																																							uc003eqt.2		NA																	4	Substitution - Missense(4)	p.T387M(4)|p.T387T(1)	ovary(4)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1159-1161)ACG>ATG		ephrin receptor EphB1 precursor							41.0	47.0	45.0					3																	134851754		2199	4295	6494	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134851754C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1160C>T	3.37:g.134851754C>T	ENSP00000381097:p.Thr387Met					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_Translation_Start_Site	p.T387M	NM_004441	NP_004432	P54762	EPHB1_HUMAN			5	1380	+			387			Extracellular (Potential).|Fibronectin type-III 1.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1160C>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835462	0.71373	.	.	ENSG00000154928	ENST00000398015	T	0.60797	0.16	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058337	0.64402	D	0.000003	T	0.77857	0.4193	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.67900	0.954	T	0.80405	-0.1396	10	0.72032	D	0.01	.	19.4235	0.94732	0.0:1.0:0.0:0.0	rs56396912	387	P54762	EPHB1_HUMAN	M	387	ENSP00000381097:T387M	ENSP00000381097:T387M	T	+	2	0	EPHB1	136334444	1.000000	0.71417	0.962000	0.40283	0.657000	0.38888	5.999000	0.70665	2.590000	0.87494	0.655000	0.94253	ACG		0.612	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		6	34	0	0	0	0.021553	0	6	34				
CSN3	1448	broad.mit.edu	37	4	71114727	71114727	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr4:71114727G>C	ENST00000304954.3	+	4	186	c.100G>C	c.(100-102)Gat>Cat	p.D34H		NM_005212.2	NP_005203.2	Q9UNS2	CSN3_HUMAN	casein kappa	174					cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)		p.D34H(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CCATGAGAATGATGAAAGACC	0.308																																							uc003hfe.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(100-102)GAT>CAT		casein kappa precursor							83.0	83.0	83.0					4																	71114727		2203	4300	6503	SO:0001583	missense	1448					extracellular region	protein binding	g.chr4:71114727G>C	U51899	CCDS3538.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000171209	ENSG00000171209			2446	protein-coding gene	gene with protein product		601695	"""casein, kappa"""	CSN10		8863730, 9050925	Standard	NM_005212		Approved		uc003hfe.4	P07498	OTTHUMG00000129399	ENST00000304954.3:c.100G>C	4.37:g.71114727G>C	ENSP00000304822:p.Asp34His						p.D34H	NM_005212	NP_005203	P07498	CASK_HUMAN			4	158	+			34					B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	ENST00000304954.3	37	c.100G>C	CCDS3538.1	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837715	0.32513	.	.	ENSG00000171209	ENST00000304954	T	0.27720	1.65	4.38	0.718	0.18202	.	1.171400	0.06074	N	0.660560	T	0.39462	0.1079	L	0.55990	1.75	0.09310	N	1	P	0.41345	0.746	P	0.49502	0.613	T	0.36432	-0.9748	10	0.87932	D	0	-9.8418	6.4898	0.22109	0.4195:0.0:0.5805:0.0	.	34	P07498	CASK_HUMAN	H	34	ENSP00000304822:D34H	ENSP00000304822:D34H	D	+	1	0	CSN3	71149316	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	0.340000	0.19892	0.089000	0.17243	-0.262000	0.10625	GAT		0.308	CSN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251555.1	NM_005212		9	23	0	0	0	0.008291	0	9	23				
NDST3	9348	broad.mit.edu	37	4	119059304	119059304	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr4:119059304G>T	ENST00000296499.5	+	5	1723	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N	NDST3_ENST00000433996.2_Missense_Mutation_p.K359N	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	440	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCTGGAAGAAGGTCTGGAATA	0.498																																							uc003ibx.2		NA																	0				large_intestine(1)	1						c.(1318-1320)AAG>AAT		N-deacetylase/N-sulfotransferase (heparan							107.0	100.0	103.0					4																	119059304		2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119059304G>T	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1320G>T	4.37:g.119059304G>T	ENSP00000296499:p.Lys440Asn					NDST3_uc011cgf.1_Missense_Mutation_p.K359N	p.K440N	NM_004784	NP_004775	O95803	NDST3_HUMAN			5	1723	+			440			Lumenal (Potential).|Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.1320G>T	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193899	0.58017	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.47177	1.14;0.85	5.39	2.69	0.31865	.	0.255939	0.43110	D	0.000617	T	0.47911	0.1471	M	0.69185	2.1	0.31597	N	0.653165	B;B	0.28400	0.21;0.004	B;B	0.35859	0.212;0.055	T	0.60193	-0.7311	10	0.72032	D	0.01	.	9.8425	0.41006	0.2683:0.0:0.7317:0.0	.	359;440	B4DI67;O95803	.;NDST3_HUMAN	N	440;359	ENSP00000296499:K440N;ENSP00000396625:K359N	ENSP00000296499:K440N	K	+	3	2	NDST3	119278752	0.999000	0.42202	1.000000	0.80357	0.985000	0.73830	0.595000	0.24029	1.272000	0.44329	0.557000	0.71058	AAG		0.498	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		28	23	1	0	1.32181e-22	0.007291	1.49975e-22	28	23				
CMYA5	202333	broad.mit.edu	37	5	79032290	79032290	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr5:79032290A>T	ENST00000446378.2	+	2	7733	c.7702A>T	c.(7702-7704)Atg>Ttg	p.M2568L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2568					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCCGAGTCTATGAGTAGAGA	0.363																																							uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(7702-7704)ATG>TTG		cardiomyopathy associated 5							59.0	59.0	59.0					5																	79032290		1892	4100	5992	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79032290A>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7702A>T	5.37:g.79032290A>T	ENSP00000394770:p.Met2568Leu						p.M2568L	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	7774	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2568					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.7702A>T	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.991082	0.00439	.	.	ENSG00000164309	ENST00000446378	T	0.15372	2.43	5.29	-9.79	0.00494	.	1.456480	0.04075	N	0.308580	T	0.11324	0.0276	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.22068	-1.0227	10	0.39692	T	0.17	.	9.6788	0.40056	0.1826:0.3009:0.5166:0.0	.	2568	Q8N3K9	CMYA5_HUMAN	L	2568	ENSP00000394770:M2568L	ENSP00000394770:M2568L	M	+	1	0	CMYA5	79068046	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-2.307000	0.01132	-1.713000	0.01392	0.459000	0.35465	ATG		0.363	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		6	23	0	0	0	0.001984	0	6	23				
VCAN	1462	broad.mit.edu	37	5	82875982	82875982	+	Splice_Site	SNP	G	G	A			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr5:82875982G>A	ENST00000265077.3	+	14	10628		c.e14+1		VCAN_ENST00000342785.4_Splice_Site|VCAN_ENST00000513016.1_Splice_Site|VCAN_ENST00000502527.2_Splice_Site|VCAN_ENST00000512590.2_Splice_Site|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Splice_Site	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican						carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGCATGAACCGTAAGTGGTCC	0.433																																							uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.e14+1		versican isoform 1 precursor							88.0	82.0	84.0					5																	82875982		2203	4300	6503	SO:0001630	splice_region_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82875982G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.10063+1G>A	5.37:g.82875982G>A						VCAN_uc003kij.3_Splice_Site_p.P2368_splice|VCAN_uc010jau.2_Splice_Site_p.P1601_splice|VCAN_uc003kik.3_Splice_Site_p.P614_splice|VCAN_uc003kil.3_Splice_Site_p.P2019_splice	p.P3355_splice	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	14	10419	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)						P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Splice_Site	SNP	ENST00000265077.3	37	c.10063_splice	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688722	0.68271	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1672	0.98154	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VCAN	82911738	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	.		0.433	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	Intron	20	20	0	0	0	0.008871	0	20	20				
TBC1D9B	23061	broad.mit.edu	37	5	179292850	179292850	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr5:179292850C>G	ENST00000356834.3	-	20	2990	c.2953G>C	c.(2953-2955)Gag>Cag	p.E985Q	TBC1D9B_ENST00000444477.2_Missense_Mutation_p.E126Q|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.E144Q|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E968Q|TBC1D9B_ENST00000518085.1_5'UTR	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	985						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCTCTCCTCACTTCCACTT	0.507																																							uc003mlh.2		NA																	0				breast(1)|skin(1)	2						c.(2953-2955)GAG>CAG		TBC1 domain family, member 9B (with GRAM domain)							214.0	174.0	188.0					5																	179292850		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179292850C>G	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2953G>C	5.37:g.179292850C>G	ENSP00000349291:p.Glu985Gln					TBC1D9B_uc003mli.2_Missense_Mutation_p.E968Q|TBC1D9B_uc003mlj.2_Missense_Mutation_p.E967Q|TBC1D9B_uc003mlf.2_Missense_Mutation_p.E59Q|TBC1D9B_uc003mlg.2_Missense_Mutation_p.E144Q|TBC1D9B_uc011dgv.1_Missense_Mutation_p.E144Q	p.E985Q	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		20	2990	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	985					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.2953G>C	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	C	1.577	-0.532652	0.04112	.	.	ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477;ENST00000544438	T;T;T;T	0.36878	3.02;3.09;1.23;1.5	4.27	4.27	0.50696	.	0.980375	0.08357	N	0.958246	T	0.30417	0.0764	L	0.36672	1.1	0.22629	N	0.998918	B;B;B;B;P	0.52061	0.003;0.005;0.005;0.03;0.95	B;B;B;B;B	0.42087	0.004;0.008;0.01;0.009;0.375	T	0.03863	-1.0997	10	0.13853	T	0.58	-14.0576	12.5726	0.56344	0.0:1.0:0.0:0.0	.	967;968;985;184;59	A1L3A9;Q66K14-2;Q66K14;B3KM54;F5H5B8	.;.;TBC9B_HUMAN;.;.	Q	985;968;144;126;59	ENSP00000349291:E985Q;ENSP00000347375:E968Q;ENSP00000430293:E144Q;ENSP00000401585:E126Q	ENSP00000347375:E968Q	E	-	1	0	TBC1D9B	179225456	0.759000	0.28416	0.495000	0.27527	0.056000	0.15407	3.218000	0.51192	2.104000	0.64026	0.462000	0.41574	GAG		0.507	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		9	76	0	0	0	0.010729	0	9	76				
ZNF322	79692	broad.mit.edu	37	6	26638557	26638557	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr6:26638557C>T	ENST00000415922.2	-	4	870	c.225G>A	c.(223-225)atG>atA	p.M75I	ZNF322_ENST00000461899.1_5'Flank|RP11-457M11.2_ENST00000456172.1_RNA|ZNF322_ENST00000471278.1_Missense_Mutation_p.M75I	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	75					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTTTCTCACACATATCACATT	0.378																																							uc003nil.3		NA																	0					0						c.(223-225)ATG>ATA		zinc finger protein 322A							76.0	70.0	72.0					6																	26638557		2202	4292	6494	SO:0001583	missense	79692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr6:26638557C>T	AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"""Zinc fingers, C2H2-type"""	23640	protein-coding gene	gene with protein product		610847	"""zinc finger protein 489"", ""HLA complex group 12"", ""zinc finger protein 322A"""	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.225G>A	6.37:g.26638557C>T	ENSP00000418897:p.Met75Ile					ZNF322A_uc003nij.2_5'Flank	p.M75I	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN			4	854	-			75			C2H2-type 2.		A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP	ENST00000415922.2	37	c.225G>A	CCDS4617.1	.	.	.	.	.	.	.	.	.	.	c	11.76	1.735320	0.30774	.	.	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.16597	2.33;2.33	5.05	3.07	0.35406	.	0.000000	0.50627	D	0.000112	T	0.01905	0.0060	N	0.01168	-0.975	0.30269	N	0.792467	B	0.06786	0.001	B	0.09377	0.004	T	0.38001	-0.9681	10	0.72032	D	0.01	-7.8095	8.03	0.30459	0.1686:0.5044:0.327:0.0	.	75	Q6U7Q0	ZN322_HUMAN	I	75	ENSP00000418897:M75I;ENSP00000419728:M75I	ENSP00000418897:M75I	M	-	3	0	ZNF322	26746536	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-0.990000	0.03732	1.428000	0.47296	0.655000	0.94253	ATG		0.378	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2	NM_024639		23	146	0	0	0	0.007835	0	23	146				
USP49	25862	broad.mit.edu	37	6	41773992	41773992	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr6:41773992G>A	ENST00000394253.3	-	3	1059	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	USP49_ENST00000373010.1_Missense_Mutation_p.R244C|USP49_ENST00000297229.2_Missense_Mutation_p.R244C|USP49_ENST00000373009.3_Missense_Mutation_p.R244C|USP49_ENST00000373006.1_Missense_Mutation_p.R244C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	244					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCGGCTGGCGACGCAGCTTG	0.711																																							uc003ori.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(730-732)CGC>TGC		ubiquitin thioesterase 49							25.0	26.0	26.0					6																	41773992		2194	4275	6469	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773992G>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.730C>T	6.37:g.41773992G>A	ENSP00000377797:p.Arg244Cys						p.R244C	NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	952	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		244					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.730C>T		.	.	.	.	.	.	.	.	.	.	G	13.78	2.338169	0.41398	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.08282	3.6;3.11;3.6;3.38;3.38	4.12	3.23	0.37069	.	1.396920	0.04606	N	0.399466	T	0.12135	0.0295	L	0.52905	1.665	0.47905	D	0.999547	D	0.69078	0.997	D	0.63033	0.91	T	0.08659	-1.0711	10	0.72032	D	0.01	-4.9633	7.3746	0.26821	0.0918:0.1718:0.7364:0.0	.	244	Q70CQ1-2	.	C	244	ENSP00000377797:R244C;ENSP00000362101:R244C;ENSP00000362100:R244C;ENSP00000362097:R244C;ENSP00000297229:R244C	ENSP00000297229:R244C	R	-	1	0	USP49	41881970	1.000000	0.71417	0.729000	0.30791	0.467000	0.32768	1.892000	0.39748	0.904000	0.36572	0.655000	0.94253	CGC		0.711	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		16	36	0	0	0	0.003163	0	16	36				
ABCC10	89845	broad.mit.edu	37	6	43400264	43400264	+	Silent	SNP	C	C	G			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr6:43400264C>G	ENST00000372530.4	+	3	761	c.546C>G	c.(544-546)ctC>ctG	p.L182L	ABCC10_ENST00000244533.3_Silent_p.L139L|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	182					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	TGGCTGCACTCTTGGCCTATG	0.637																																							uc003ouy.1		NA																	0				ovary(6)|central_nervous_system(1)	7						c.(544-546)CTC>CTG		ATP-binding cassette, sub-family C, member 10							63.0	65.0	65.0					6																	43400264		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400264C>G	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.546C>G	6.37:g.43400264C>G						ABCC10_uc003ouz.1_Silent_p.L139L	p.L182L	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		3	761	+	all_lung(25;0.00536)		182			Helical; (Potential).		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.546C>G	CCDS56430.1																																																																																				0.637	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		37	83	0	0	0	0.017118	0	37	83				
TNFRSF21	27242	broad.mit.edu	37	6	47251956	47251956	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr6:47251956C>A	ENST00000296861.2	-	3	1354	c.961G>T	c.(961-963)Ggc>Tgc	p.G321C		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	321					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GACTTCTCGCCCCCAGTGGCC	0.562																																							uc003oyv.2		NA																	0					0						c.(961-963)GGC>TGC		tumor necrosis factor receptor superfamily,							190.0	175.0	180.0					6																	47251956		2203	4300	6503	SO:0001583	missense	27242				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	g.chr6:47251956C>A	AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.961G>T	6.37:g.47251956C>A	ENSP00000296861:p.Gly321Cys						p.G321C	NM_014452	NP_055267	O75509	TNR21_HUMAN	Lung(136;0.189)		3	1394	-			321			Extracellular (Potential).		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	ENST00000296861.2	37	c.961G>T	CCDS4921.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596083	0.66332	.	.	ENSG00000146072	ENST00000296861	T	0.67865	-0.29	5.91	5.04	0.67666	.	0.139090	0.64402	D	0.000004	T	0.70824	0.3268	M	0.61703	1.905	0.49299	D	0.999779	D	0.76494	0.999	D	0.65773	0.938	T	0.76102	-0.3082	10	0.87932	D	0	.	11.8654	0.52490	0.0:0.8614:0.0:0.1386	.	321	O75509	TNR21_HUMAN	C	321	ENSP00000296861:G321C	ENSP00000296861:G321C	G	-	1	0	TNFRSF21	47359915	0.403000	0.25319	0.119000	0.21687	0.950000	0.60333	2.291000	0.43540	1.504000	0.48704	0.655000	0.94253	GGC		0.562	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040814.1	NM_014452		19	126	1	0	7.41877e-09	0.012319	7.81621e-09	19	126				
MDN1	23195	broad.mit.edu	37	6	90385846	90385846	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr6:90385846T>C	ENST00000369393.3	-	77	12735	c.12620A>G	c.(12619-12621)aAc>aGc	p.N4207S	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.N4207S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4207					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAGTGCTGCGTTAAGCCTGGC	0.478																																							uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(12619-12621)AAC>AGC		MDN1, midasin homolog							109.0	95.0	100.0					6																	90385846		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90385846T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12620A>G	6.37:g.90385846T>C	ENSP00000358400:p.Asn4207Ser						p.N4207S	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	77	12736	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4207					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.12620A>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	8.783	0.928781	0.18131	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03035	4.07;4.07	5.64	-2.71	0.05986	.	0.563878	0.19118	N	0.122259	T	0.00412	0.0013	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41627	-0.9498	10	0.38643	T	0.18	.	4.9675	0.14098	0.1081:0.0774:0.4624:0.3521	.	4207	Q9NU22	MDN1_HUMAN	S	4207	ENSP00000358400:N4207S;ENSP00000413970:N4207S	ENSP00000358400:N4207S	N	-	2	0	MDN1	90442567	0.172000	0.23043	0.002000	0.10522	0.728000	0.41692	0.215000	0.17562	-0.596000	0.05821	-0.466000	0.05196	AAC		0.478	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			10	27	0	0	0	0.010729	0	10	27				
TRAF3IP2	10758	broad.mit.edu	37	6	111912597	111912597	+	Silent	SNP	G	G	C			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr6:111912597G>C	ENST00000340026.6	-	3	1314	c.720C>G	c.(718-720)ctC>ctG	p.L240L	TRAF3IP2_ENST00000368761.5_Silent_p.L231L|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Silent_p.L231L			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	240	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)					central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CCCTGGACCTGAGAGGTCTGG	0.572																																							uc011ebc.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(691-693)CTC>CTG		TRAF3 interacting protein 2 isoform 2							72.0	75.0	74.0					6																	111912597		2203	4300	6503	SO:0001819	synonymous_variant	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111912597G>C	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.720C>G	6.37:g.111912597G>C						TRAF3IP2_uc003pvg.2_Silent_p.L231L|TRAF3IP2_uc003pvf.2_Silent_p.L231L|TRAF3IP2_uc010kdw.2_Silent_p.L231L|TRAF3IP2_uc010kdx.2_Silent_p.L231L	p.L231L	NM_147686	NP_679211	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	3	1308	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	240					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Silent	SNP	ENST00000340026.6	37	c.693C>G																																																																																					0.572	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2			11	70	0	0	0	0.010729	0	11	70				
TAAR8	83551	broad.mit.edu	37	6	132874690	132874690	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr6:132874690A>G	ENST00000275200.1	+	1	859	c.859A>G	c.(859-861)Acc>Gcc	p.T287A		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	287					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		GGGCTTCCTGACCCCTGCCTA	0.388																																							uc011ecj.1		NA																	0				ovary(1)	1						c.(859-861)ACC>GCC		trace amine associated receptor 8																																				SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874690A>G	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.859A>G	6.37:g.132874690A>G	ENSP00000275200:p.Thr287Ala						p.T287A	NM_053278	NP_444508	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	859	+	Breast(56;0.112)		287			Helical; Name=7; (Potential).		Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.859A>G	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	A	16.10	3.027717	0.54790	.	.	ENSG00000146385	ENST00000275200	T	0.72051	-0.62	4.72	3.56	0.40772	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.73984	0.3657	M	0.83223	2.63	0.27253	N	0.958838	D	0.56035	0.974	P	0.60541	0.876	T	0.68663	-0.5349	10	0.66056	D	0.02	-18.7108	10.1897	0.43019	0.9217:0.0:0.0783:0.0	.	287	Q969N4	TAAR8_HUMAN	A	287	ENSP00000275200:T287A	ENSP00000275200:T287A	T	+	1	0	TAAR8	132916383	0.000000	0.05858	0.291000	0.24904	0.569000	0.35902	0.887000	0.28254	0.944000	0.37579	0.533000	0.62120	ACC		0.388	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		11	114	0	0	0	0.010729	0	11	114				
MAGI2	9863	broad.mit.edu	37	7	78256514	78256514	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr7:78256514C>G	ENST00000354212.4	-	3	713	c.460G>C	c.(460-462)Gat>Cat	p.D154H	MAGI2_ENST00000535697.1_5'UTR|MAGI2_ENST00000419488.1_Missense_Mutation_p.D154H|MAGI2_ENST00000522391.1_Missense_Mutation_p.D154H|MAGI2_ENST00000536571.1_5'UTR	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	154	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AAAATATAATCCACTCCAGGG	0.393																																							uc003ugx.2		NA																	0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(460-462)GAT>CAT		membrane associated guanylate kinase, WW and PDZ							88.0	82.0	84.0					7																	78256514		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:78256514C>G	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.460G>C	7.37:g.78256514C>G	ENSP00000346151:p.Asp154His					MAGI2_uc003ugy.2_Missense_Mutation_p.D154H|MAGI2_uc011kgr.1_5'UTR|MAGI2_uc011kgs.1_5'UTR	p.D154H	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			3	714	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	154			Guanylate kinase-like.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.460G>C	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466642	0.84425	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.54479	0.57;0.57;0.57	5.3	5.3	0.74995	Guanylate kinase/L-type calcium channel (1);Guanylate kinase, conserved site (1);Guanylate kinase (2);	.	.	.	.	T	0.67776	0.2929	L	0.45470	1.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69072	-0.5242	9	0.59425	D	0.04	.	17.9332	0.89005	0.0:1.0:0.0:0.0	.	154;154	Q86UL8-2;Q86UL8	.;MAGI2_HUMAN	H	154	ENSP00000405766:D154H;ENSP00000346151:D154H;ENSP00000428389:D154H	ENSP00000346151:D154H	D	-	1	0	MAGI2	78094450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.476000	0.83614	0.655000	0.94253	GAT		0.393	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		5	44	0	0	0	0.014758	0	5	44				
MET	4233	broad.mit.edu	37	7	116411902	116411902	+	Splice_Site	SNP	G	G	A			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr7:116411902G>A	ENST00000318493.6	+	14	3128		c.e14-1		MET_ENST00000397752.3_Splice_Site			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase						apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.982_1028del47(1)|p.?(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCTGTTTTAAGATCTGGGCAG	0.458			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														uc003vij.2		NA		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		2	Unknown(2)	p.982_1028del47(1)|p.?(1)	lung(2)	upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.e14-1		met proto-oncogene isoform b precursor							60.0	56.0	57.0					7																	116411902		1869	4103	5972	SO:0001630	splice_region_variant	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116411902G>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2942-1G>A	7.37:g.116411902G>A						MET_uc010lkh.2_Splice_Site_p.D981_splice|MET_uc011knj.1_Splice_Site_p.D533_splice	p.D963_splice	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		14	3075	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)						A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Splice_Site	SNP	ENST00000318493.6	37	c.2888_splice	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375201	0.82682	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MET	116199138	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.401000	0.79962	2.882000	0.98803	0.655000	0.94253	.		0.458	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		Intron	24	9	0	0	0	0.004656	0	24	9				
NLGN4X	57502	broad.mit.edu	37	X	5811125	5811125	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chrX:5811125C>A	ENST00000381095.3	-	6	2811	c.2184G>T	c.(2182-2184)gaG>gaT	p.E728D	NLGN4X_ENST00000381092.1_Missense_Mutation_p.E728D|NLGN4X_ENST00000381093.2_Missense_Mutation_p.E748D|NLGN4X_ENST00000275857.6_Missense_Mutation_p.E728D|NLGN4X_ENST00000538097.1_Missense_Mutation_p.E728D	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	728					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GAGACATGATCTCTTCGTTCT	0.552																																							uc010ndh.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(2182-2184)GAG>GAT		X-linked neuroligin 4 precursor							162.0	120.0	134.0					X																	5811125		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811125C>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2184G>T	X.37:g.5811125C>A	ENSP00000370485:p.Glu728Asp					NLGN4X_uc004crp.2_Missense_Mutation_p.E748D|NLGN4X_uc004crq.2_Missense_Mutation_p.E728D|NLGN4X_uc010ndi.2_Missense_Mutation_p.E765D|NLGN4X_uc004crr.2_Missense_Mutation_p.E728D|NLGN4X_uc010ndj.2_Missense_Mutation_p.E728D	p.E728D	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			6	2685	-			728			Cytoplasmic (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.2184G>T	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	C	5.556	0.287436	0.10513	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21	3.82	0.95	0.19572	.	0.488063	0.15338	N	0.267623	T	0.25232	0.0613	L	0.60455	1.87	0.36006	D	0.837716	D;B;P	0.59357	0.985;0.102;0.956	P;B;P	0.55508	0.777;0.059;0.709	T	0.25984	-1.0116	10	0.40728	T	0.16	.	7.0031	0.24821	0.0:0.5908:0.0:0.4092	.	785;728;748	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	D	728;748;728;728;728	ENSP00000370485:E728D;ENSP00000370483:E748D;ENSP00000275857:E728D;ENSP00000370482:E728D;ENSP00000439203:E728D	ENSP00000275857:E728D	E	-	3	2	NLGN4X	5821125	1.000000	0.71417	0.982000	0.44146	0.098000	0.18820	0.927000	0.28818	0.470000	0.27294	-0.322000	0.08575	GAG		0.552	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		22	54	1	0	1.55795e-14	0.012319	1.73432e-14	22	54				
SLC6A15	55117	broad.mit.edu	37	12	85270377	85270378	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr12:85270377_85270378insT	ENST00000266682.5	-	6	1306_1307	c.765_766insA	c.(763-768)tattttfs	p.F256fs	SLC6A15_ENST00000552192.1_Frame_Shift_Ins_p.F149fs|SLC6A15_ENST00000551388.1_5'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	256					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AGAGAACTAAAATATATGATCT	0.302																																							uc001szv.2		NA																	0				pancreas(2)|ovary(1)	3						c.(763-768)TATTTTfs		solute carrier family 6, member 15 isoform 1																																				SO:0001589	frameshift_variant	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85270377_85270378insT	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.765_766insA	12.37:g.85270377_85270378insT	ENSP00000266682:p.Phe256fs					SLC6A15_uc010sul.1_Frame_Shift_Ins_p.Y148fs	p.Y255fs	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			6	1258_1259	-			255_256			Helical; Name=5; (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Frame_Shift_Ins	INS	ENST00000266682.5	37	c.765_766insA	CCDS9026.1																																																																																				0.302	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		14	22	NA	NA	NA	NA	NA	14	22	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48951168	48951168	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr13:48951168delC	ENST00000267163.4	+	13	1468	c.1330delC	c.(1330-1332)cagfs	p.Q444fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	444	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(9)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AATTGGATCACAGGTAACTTG	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		24	Whole gene deletion(15)|Unknown(9)	p.?(8)|p.Q444H(1)	bone(11)|breast(5)|central_nervous_system(3)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CD942296|CM030503	RB1	D|M		c.(1330-1332)CAGfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						105.0	112.0	110.0					13																	48951168		2203	4299	6502	SO:0001589	frameshift_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48951168delC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1330delC	13.37:g.48951168delC	ENSP00000267163:p.Gln444fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010act.1_Frame_Shift_Del_p.Q145fs	p.Q444fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	13	1496	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	444			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.1330delC	CCDS31973.1																																																																																				0.333	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			16	15	NA	NA	NA	NA	NA	16	15	---	---	---	---
ZNF320	162967	broad.mit.edu	37	19	53384185	53384185	+	Frame_Shift_Del	DEL	C	C	-	rs6509701	byFrequency	TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr19:53384185delC	ENST00000595635.1	-	8	1695	c.1194delG	c.(1192-1194)gcgfs	p.A398fs	ZNF320_ENST00000391781.2_Frame_Shift_Del_p.A398fs|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ATGCGAGGTACGCTTTTGTAC	0.393																																							uc002qag.2		NA																	0					0						c.(1192-1194)GCGfs		zinc finger protein 320							90.0	85.0	87.0					19																	53384185		2203	4300	6503	SO:0001589	frameshift_variant	162967				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53384185delC	AF086262	CCDS33095.1	19q13.41	2014-09-04			ENSG00000182986	ENSG00000182986		"""Zinc fingers, C2H2-type"", ""-"""	13842	protein-coding gene	gene with protein product		606427				11536051	Standard	XM_006723059		Approved	ZFPL, DKFZp686G16228	uc002qag.3	A2RRD8	OTTHUMG00000182797	ENST00000595635.1:c.1194delG	19.37:g.53384185delC	ENSP00000473091:p.Ala398fs					ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Frame_Shift_Del_p.A344fs|ZNF320_uc002qai.2_Frame_Shift_Del_p.A398fs	p.A398fs	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN		GBM - Glioblastoma multiforme(134;0.0534)	4	1385	-			398			C2H2-type 9.		Q8NDR6	Frame_Shift_Del	DEL	ENST00000595635.1	37	c.1194delG	CCDS33095.1																																																																																				0.393	ZNF320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463771.1	NM_207333		12	41	NA	NA	NA	NA	NA	12	41	---	---	---	---
CTNNBL1	56259	broad.mit.edu	37	20	36386054	36386072	+	Splice_Site	DEL	CTCTGGTAAGTTGCACATC	CTCTGGTAAGTTGCACATC	-			TCGA-78-7143-01A-11D-2036-08	TCGA-78-7143-10A-01D-2036-08	CTCTGGTAAGTTGCACATC	CTCTGGTAAGTTGCACATC	-	-	CTCTGGTAAGTTGCACATC	CTCTGGTAAGTTGCACATC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b710996c-8d35-4a2c-bc51-389b3e35b0f3	11e7f779-f338-41d4-914d-19f50cc524c3	g.chr20:36386054_36386072delCTCTGGTAAGTTGCACATC	ENST00000361383.6	+	5	677_681	c.560_564delCTCTGGTAAGTTGCACATC	c.(559-564)gctctg>g	p.AL187fs	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Intron|CTNNBL1_ENST00000405275.2_Splice_Site_p.AL160fs	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	187					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTCATCGATGCTCTGGTAAGTTGCACATCCTCTGGGGTT	0.502																																					Ovarian(184;582 2038 3273 4106 42608)	Ovarian(184;582 2038 3273 4106 42608)	uc010zvw.1		NA																	0				ovary(2)	2						c.e6+1		beta catenin-like 1																																				SO:0001630	splice_region_variant	56259				apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding	g.chr20:36386054_36386072delCTCTGGTAAGTTGCACATC	AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.564+1CTCTGGTAAGTTGCACATC>-	20.37:g.36386054_36386072delCTCTGGTAAGTTGCACATC						CTNNBL1_uc002xhh.2_Intron|CTNNBL1_uc002xhi.2_Splice_Site	p.L188_splice	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN			6	655	+		Myeloproliferative disorder(115;0.00878)						B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Splice_Site	DEL	ENST00000361383.6	37	c.564_splice	CCDS13298.1																																																																																				0.502	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079125.1	NM_030877	Frame_Shift_Del	11	19	NA	NA	NA	NA	NA	11	19	---	---	---	---
