#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ROBO2	6092	broad.mit.edu	37	3	77693942	77693942	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr3:77693942C>G	ENST00000461745.1	+	25	4922	c.4022C>G	c.(4021-4023)aCt>aGt	p.T1341S	ROBO2_ENST00000487694.3_Missense_Mutation_p.T1357S|ROBO2_ENST00000332191.8_Missense_Mutation_p.T1402S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1341					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGGGATCCACTGGACCTAGG	0.517																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(4021-4023)aCt>aGt		roundabout, axon guidance receptor, homolog 2 (Drosophila)							89.0	91.0	90.0					3																	77693942		2026	4174	6200	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77693942C>G	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.4022C>G	3.37:g.77693942C>G	ENSP00000417164:p.Thr1341Ser					ROBO2_ENST00000487694.3_Missense_Mutation_p.T1357S|ROBO2_ENST00000332191.8_Missense_Mutation_p.T1402S	p.T1341S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	25	4922	+			1341					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.4022C>G	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.038701|4.038701	0.75617|0.75617	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000475334;ENST00000490534|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.|T;T;T	.|0.65916	.|-0.18;-0.15;-0.11	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.47455	.|D	.|0.000240	T|T	0.63954|0.63954	0.2555|0.2555	N|N	0.08118|0.08118	0|0	.|0.31090	.|N	.|0.710863	.|D;D;D	.|0.67145	.|0.993;0.996;0.993	.|D;D;D	.|0.73380	.|0.956;0.98;0.956	T|T	0.65553|0.65553	-0.6140|-0.6140	4|9	.|0.29301	.|T	.|0.29	.|.	20.168|20.168	0.98156|0.98156	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1357;1402;1341	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	Q|S	172;160|1357;1357;1341;1402	.|ENSP00000417335:T1357S;ENSP00000417164:T1341S;ENSP00000327536:T1402S	.|ENSP00000327536:T1402S	H|T	+|+	3|2	2|0	ROBO2|ROBO2	77776632|77776632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.374000|0.374000	0.29953|0.29953	7.251000|7.251000	0.78297|0.78297	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	CAC|ACT		0.517	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		5	62	0	0	0	0.014758	0	5	62				
DNAJB5	25822	broad.mit.edu	37	9	34997172	34997172	+	Silent	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr9:34997172C>T	ENST00000541010.1	+	3	3975	c.963C>T	c.(961-963)ctC>ctT	p.L321L	DNAJB5_ENST00000453597.3_Silent_p.L435L|DNAJB5_ENST00000454002.2_Silent_p.L393L|DNAJB5_ENST00000545841.1_Silent_p.L321L|DNAJB5_ENST00000335998.3_Silent_p.L355L|DNAJB5_ENST00000312316.5_Silent_p.L321L			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	321					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAGGAGACCTCATTGTTGAGT	0.547																																						ENST00000541010.1																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(961-963)ctC>ctT		DnaJ (Hsp40) homolog, subfamily B, member 5							135.0	132.0	133.0					9																	34997172		2203	4300	6503	SO:0001819	synonymous_variant	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34997172C>T	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.963C>T	9.37:g.34997172C>T						DNAJB5_ENST00000335998.3_Silent_p.L355L|DNAJB5_ENST00000454002.2_Silent_p.L393L|DNAJB5_ENST00000312316.5_Silent_p.L321L|DNAJB5_ENST00000453597.3_Silent_p.L435L|DNAJB5_ENST00000545841.1_Silent_p.L321L	p.L321L			O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		3	3975	+			321					B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	c.963C>T	CCDS35007.1																																																																																				0.547	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			33	54	0	0	0	0.059317	0	33	54				
UQCR10	29796	broad.mit.edu	37	22	30163414	30163414	+	Silent	SNP	A	A	G	rs17849991		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr22:30163414A>G	ENST00000330029.6	+	1	57	c.27A>G	c.(25-27)aaA>aaG	p.K9K	UQCR10_ENST00000401406.3_Silent_p.K9K|ZMAT5_ENST00000344318.3_5'Flank|ZMAT5_ENST00000397781.3_5'Flank	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	9					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						TGACTTCGAAATTGTACTCCC	0.627																																						ENST00000330029.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						c.(25-27)aaA>aaG		ubiquinol-cytochrome c reductase, complex III subunit X							53.0	61.0	59.0					22																	30163414		2053	4193	6246	SO:0001819	synonymous_variant	29796				mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr22:30163414A>G	AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076		"""Mitochondrial respiratory chain complex / Complex III"""	30863	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa"", ""complex III subunit 9"""	610843				11042152	Standard	NM_013387		Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000330029.6:c.27A>G	22.37:g.30163414A>G						UQCR10_ENST00000401406.3_Silent_p.K9K	p.K9K	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN			1	57	+			9					B5MCM5|Q9T2V6	Silent	SNP	ENST00000330029.6	37	c.27A>G	CCDS46680.1																																																																																				0.627	UQCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322081.1	NM_013387		5	25	0	0	0	0.029380	0	5	25				
CA8	767	broad.mit.edu	37	8	61178528	61178528	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr8:61178528G>A	ENST00000317995.4	-	3	637	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	125					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	TCAGAACCACGCTGGTTTTCT	0.383																																						ENST00000317995.4																			0				endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16						c.(373-375)Cgt>Tgt		carbonic anhydrase VIII							79.0	76.0	77.0					8																	61178528		2203	4300	6503	SO:0001583	missense	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61178528G>A	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.373C>T	8.37:g.61178528G>A	ENSP00000314407:p.Arg125Cys						p.R125C	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN			3	637	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	125					A8K0A5|B3KQZ7|Q32MY2	Missense_Mutation	SNP	ENST00000317995.4	37	c.373C>T	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310698	0.81358	.	.	ENSG00000178538	ENST00000317995	T	0.68025	-0.3	5.58	5.58	0.84498	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.83128	0.5187	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81788	-0.0772	10	0.37606	T	0.19	.	19.5923	0.95520	0.0:0.0:1.0:0.0	.	125	P35219	CAH8_HUMAN	C	125	ENSP00000314407:R125C	ENSP00000314407:R125C	R	-	1	0	CA8	61341082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.197000	0.72100	2.644000	0.89710	0.557000	0.71058	CGT		0.383	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			5	24	0	0	0	0.029380	0	5	24				
CDX1	1044	broad.mit.edu	37	5	149562382	149562382	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr5:149562382G>T	ENST00000231656.8	+	2	579	c.497G>T	c.(496-498)cGc>cTc	p.R166L		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	166					anterior/posterior pattern specification (GO:0009952)|bone morphogenesis (GO:0060349)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACCACCAACGCCTGGAGCTG	0.567																																						ENST00000231656.8																			0				central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5						c.(496-498)cGc>cTc		caudal type homeobox 1							151.0	151.0	151.0					5																	149562382		2203	4300	6503	SO:0001583	missense	1044					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:149562382G>T	U51095	CCDS4304.1	5q32	2012-03-09	2007-07-09		ENSG00000113722	ENSG00000113722		"""Homeoboxes / ANTP class : HOXL subclass"""	1805	protein-coding gene	gene with protein product		600746	"""caudal type homeo box transcription factor 1"""			8530027	Standard	NM_001804		Approved		uc003lrq.3	P47902	OTTHUMG00000169772	ENST00000231656.8:c.497G>T	5.37:g.149562382G>T	ENSP00000231656:p.Arg166Leu						p.R166L	NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	579	+		all_hematologic(541;0.224)	166					Q4VAU4|Q9NYK8	Missense_Mutation	SNP	ENST00000231656.8	37	c.497G>T	CCDS4304.1	.	.	.	.	.	.	.	.	.	.	G	36	5.702800	0.96812	.	.	ENSG00000113722	ENST00000231656;ENST00000377812	D	0.94687	-3.49	5.87	5.87	0.94306	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.122961	0.56097	D	0.000032	D	0.93700	0.7987	N	0.04260	-0.245	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95546	0.8616	10	0.72032	D	0.01	-13.975	20.2079	0.98282	0.0:0.0:1.0:0.0	.	166	P47902	CDX1_HUMAN	L	166;55	ENSP00000231656:R166L	ENSP00000231656:R166L	R	+	2	0	CDX1	149542575	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.787000	0.99055	2.781000	0.95711	0.655000	0.94253	CGC		0.567	CDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252328.7	NM_001804		58	127	1	0	3.21867e-24	0.048971	5.00683e-24	58	127				
GP5	2814	broad.mit.edu	37	3	194118889	194118889	+	Silent	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr3:194118889C>T	ENST00000401815.1	-	1	194	c.123G>A	c.(121-123)gcG>gcA	p.A41A	GP5_ENST00000323007.3_Silent_p.A41A			P40197	GPV_HUMAN	glycoprotein V (platelet)	41	LRRNT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CGGAGATGCGCGCCACGTCGC	0.706																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(121-123)gcG>gcA		glycoprotein V (platelet)							29.0	30.0	30.0					3																	194118889		2190	4286	6476	SO:0001819	synonymous_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118889C>T	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.123G>A	3.37:g.194118889C>T						GP5_ENST00000323007.3_Silent_p.A41A	p.A41A			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	194	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	41			LRRNT.		D1MER9	Silent	SNP	ENST00000401815.1	37	c.123G>A	CCDS3307.1																																																																																				0.706	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		13	28	0	0	0	0.020292	0	13	28				
SLC16A12	387700	broad.mit.edu	37	10	91222287	91222287	+	5'UTR	SNP	A	A	C	rs3740030	byFrequency	TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr10:91222287A>C	ENST00000341233.4	-	0	349				RP11-168O10.6_ENST00000423474.1_RNA|SLC16A12_ENST00000371790.4_Missense_Mutation_p.W17G|RP11-168O10.6_ENST00000454270.1_RNA	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TCCAACAGCCAAGTTATGATC	0.478													A|||	345	0.0688898	0.0045	0.0375	5008	,	,		19194	0.2242		0.0736	False		,,,				2504	0.0133					ENST00000371790.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						c.(49-51)Tgg>Ggg		solute carrier family 16, member 12		A	GLY/TRP	97,4309	61.1+/-98.1	2,93,2108	39.0	37.0	38.0		49	0.6	0.5	10	dbSNP_107	38	731,7869	140.3+/-196.8	37,657,3606	yes	missense	SLC16A12	NM_213606.3	184	39,750,5714	CC,CA,AA		8.5,2.2015,6.3663		17/517	91222287	828,12178	2203	4300	6503	SO:0001623	5_prime_UTR_variant	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91222287A>C		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.-42T>G	10.37:g.91222287A>C						SLC16A12_ENST00000341233.4_5'UTR|RP11-168O10.6_ENST00000454270.1_RNA	p.W17G			Q6ZSM3	MOT12_HUMAN			3	349	-			0					Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	37	c.49T>G		196	0.08974358974358974	1	0.0020325203252032522	18	0.049723756906077346	121	0.21153846153846154	56	0.07387862796833773	A	7.041	0.562625	0.13498	0.022015	0.085	ENSG00000152779	ENST00000371790;ENST00000475682	T	0.18657	2.2	5.66	0.616	0.17613	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.51233	P	8.20000000000265E-5	.	.	.	.	.	.	T	0.45396	-0.9264	6	0.26408	T	0.33	.	9.0335	0.36273	0.2463:0.6418:0.0:0.1119	rs3740030;rs17122031;rs56505202;rs59939587;rs3740030	.	.	.	G	17	ENSP00000360855:W17G	ENSP00000360855:W17G	W	-	1	0	SLC16A12	91212267	0.766000	0.28496	0.496000	0.27539	0.171000	0.22731	0.772000	0.26647	0.530000	0.28619	-0.265000	0.10407	TGG		0.478	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		2	11	0	0	0	0.004672	0	2	11				
MTUS2	23281	broad.mit.edu	37	13	29600340	29600340	+	Missense_Mutation	SNP	T	T	A	rs199993580		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr13:29600340T>A	ENST00000431530.3	+	1	1593	c.1535T>A	c.(1534-1536)gTc>gAc	p.V512D		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	502						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCAAAGAGGTCACCACATCT	0.493																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1534-1536)gTc>gAc		microtubule associated tumor suppressor candidate 2		T	ASP/VAL	0,3958		0,0,1979	86.0	91.0	89.0		1535	0.6	0.0	13		89	4,8308		0,4,4152	yes	missense	MTUS2	NM_001033602.2	152	0,4,6131	AA,AT,TT		0.0481,0.0,0.0326	benign	512/1380	29600340	4,12266	1979	4156	6135	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600340T>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1535T>A	13.37:g.29600340T>A	ENSP00000392057:p.Val512Asp						p.V512D	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1593	+			502					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1535T>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	t	12.03	1.815657	0.32145	0.0	4.81E-4	ENSG00000132938	ENST00000431530	T	0.12569	2.67	5.92	0.654	0.17833	.	1.542390	0.03750	N	0.256352	T	0.07143	0.0181	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.23275	0.045	T	0.34428	-0.9829	9	.	.	.	.	4.0154	0.09641	0.0:0.3151:0.1835:0.5013	.	502	Q5JR59	MTUS2_HUMAN	D	512	ENSP00000392057:V512D	.	V	+	2	0	MTUS2	28498340	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.271000	0.08572	0.121000	0.18284	0.533000	0.62120	GTC		0.493	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		6	19	0	0	0	0.021553	0	6	19				
TTC6	319089	broad.mit.edu	37	14	38277950	38277950	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr14:38277950G>A	ENST00000476979.1	+	6	657	c.370G>A	c.(370-372)Gca>Aca	p.A124T	TTC6_ENST00000267368.7_Missense_Mutation_p.A124T|TTC6_ENST00000553443.1_Missense_Mutation_p.A1490T|TTC6_ENST00000382320.3_Missense_Mutation_p.A204T			Q86TZ1	TTC6_HUMAN	tetratricopeptide repeat domain 6	124										central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TTATAAGCTAGCAATTACAGA	0.274																																						ENST00000553443.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14						c.(4468-4470)Gca>Aca		tetratricopeptide repeat domain 6							102.0	108.0	106.0					14																	38277950		2200	4280	6480	SO:0001583	missense	319089							g.chr14:38277950G>A	BC014342		14q13.1	2013-01-10			ENSG00000139865	ENSG00000139865		"""Tetratricopeptide (TTC) repeat domain containing"""	19739	protein-coding gene	gene with protein product			"""non-protein coding RNA 291"", ""chromosome 14 open reading frame 25"""	NCRNA00291, C14orf25			Standard	XM_006709976		Approved		uc001wuj.3	Q86TZ1	OTTHUMG00000157369	ENST00000476979.1:c.370G>A	14.37:g.38277950G>A	ENSP00000417788:p.Ala124Thr					TTC6_ENST00000382320.3_Missense_Mutation_p.A204T|TTC6_ENST00000476979.1_Missense_Mutation_p.A124T|TTC6_ENST00000267368.7_Missense_Mutation_p.A124T	p.A1490T					Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)	24	4468	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)							Q3SY88|Q96CE6	Missense_Mutation	SNP	ENST00000476979.1	37	c.4468G>A		.	.	.	.	.	.	.	.	.	.	G	25.7	4.669086	0.88348	.	.	ENSG00000139865	ENST00000553443;ENST00000476979;ENST00000267368;ENST00000382320	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.070483	0.56097	D	0.000039	D	0.94522	0.8236	.	.	.	0.29224	N	0.8737159999999999	D;D	0.89917	1.0;0.997	D;D	0.80764	0.994;0.951	D	0.94874	0.8033	8	0.87932	D	0	-4.4848	16.6508	0.85188	0.0:0.0:1.0:0.0	.	1490;124	G3V3A5;Q86TZ1	.;TTC6_HUMAN	T	1490;124;124;204	ENSP00000451131:A1490T;ENSP00000417788:A124T;ENSP00000267368:A124T;ENSP00000371757:A204T	ENSP00000267368:A124T	A	+	1	0	TTC6	37347701	0.997000	0.39634	0.975000	0.42487	0.989000	0.77384	4.779000	0.62375	2.670000	0.90874	0.467000	0.42956	GCA		0.274	TTC6-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000348621.2	XM_002343299		29	58	0	0	0	0.037714	0	29	58				
CDC5L	988	broad.mit.edu	37	6	44371735	44371735	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:44371735A>T	ENST00000371477.3	+	6	1028	c.729A>T	c.(727-729)agA>agT	p.R243S		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	243	Nuclear localization signal. {ECO:0000255}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAAATTAAGACAACAGGATC	0.398																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(727-729)agA>agT		cell division cycle 5-like							63.0	65.0	64.0					6																	44371735		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44371735A>T	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.729A>T	6.37:g.44371735A>T	ENSP00000360532:p.Arg243Ser						p.R243S	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	1028	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		243					Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.729A>T	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.755782	0.49362	.	.	ENSG00000096401	ENST00000371477	T	0.45668	0.89	6.04	2.06	0.26882	.	0.000000	0.85682	D	0.000000	T	0.10809	0.0264	L	0.41356	1.27	0.80722	D	1	B	0.29988	0.264	B	0.24974	0.057	T	0.10730	-1.0617	10	0.25751	T	0.34	-19.5698	1.1329	0.01749	0.4341:0.2203:0.2187:0.1268	.	243	Q99459	CDC5L_HUMAN	S	243	ENSP00000360532:R243S	ENSP00000360532:R243S	R	+	3	2	CDC5L	44479713	0.905000	0.30787	1.000000	0.80357	0.997000	0.91878	-0.014000	0.12656	0.493000	0.27837	0.460000	0.39030	AGA		0.398	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			16	32	0	0	0	0.043863	0	16	32				
TNP2	7142	broad.mit.edu	37	16	11363130	11363130	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr16:11363130G>A	ENST00000312693.3	-	0	59				RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)						acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						AGGAGGCCACGTTTGGAGGGG	0.587																																						ENST00000312693.3																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6								transition protein 2 (during histone to protamine replacement)							45.0	51.0	49.0					16																	11363130		2050	4191	6241			7142				cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr16:11363130G>A		CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952			16.37:g.11363130G>A						RMI2_ENST00000572173.1_Intron		NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN			0	59	-								Q9NZB0	Translation_Start_Site	SNP	ENST00000312693.3	37		CCDS45410.1																																																																																				0.587	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417806.1	NM_005425		4	44	0	0	0	0.009096	0	4	44				
SCN4A	6329	broad.mit.edu	37	17	62022975	62022975	+	Silent	SNP	G	G	A	rs566581547		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr17:62022975G>A	ENST00000435607.1	-	19	3541	c.3465C>T	c.(3463-3465)ggC>ggT	p.G1155G	SCN4A_ENST00000578147.1_Silent_p.G1155G	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1155					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGGGATGGCGCCTAGGAGGG	0.592													g|||	1	0.000199681	0.0	0.0	5008	,	,		16258	0.001		0.0	False		,,,				2504	0.0					ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(3463-3465)ggC>ggT		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						133.0	137.0	136.0					17																	62022975		2200	4299	6499	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62022975G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3465C>T	17.37:g.62022975G>A						SCN4A_ENST00000578147.1_Silent_p.G1155G	p.G1155G	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN			19	3541	-			1155					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.3465C>T	CCDS45761.1																																																																																				0.592	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		25	120	0	0	0	0.091800	0	25	120				
NPY1R	4886	broad.mit.edu	37	4	164247226	164247226	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr4:164247226C>A	ENST00000296533.2	-	2	1012	c.481G>T	c.(481-483)Gtg>Ttg	p.V161L	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	161					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACCCAAATCACAGCAATACCT	0.433																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(481-483)Gtg>Ttg		neuropeptide Y receptor Y1							137.0	126.0	130.0					4																	164247226		2203	4300	6503	SO:0001583	missense	0				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247226C>A		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.481G>T	4.37:g.164247226C>A	ENSP00000354652:p.Val161Leu					NPY1R_ENST00000509586.1_Intron	p.V161L	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			2	1012	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	161					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.481G>T	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	4.347	0.063799	0.08388	.	.	ENSG00000164128	ENST00000296533	T	0.36340	1.26	5.84	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.362803	0.25161	N	0.032672	T	0.14442	0.0349	N	0.02391	-0.57	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08597	-1.0714	10	0.08599	T	0.76	.	13.2854	0.60241	0.0:0.8093:0.123:0.0677	.	161	P25929	NPY1R_HUMAN	L	161	ENSP00000354652:V161L	ENSP00000354652:V161L	V	-	1	0	NPY1R	164466676	0.987000	0.35691	0.998000	0.56505	0.961000	0.63080	1.180000	0.32005	1.487000	0.48415	0.655000	0.94253	GTG		0.433	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			13	25	1	0	7.03913e-09	0.093190	1.01946e-08	13	25				
WWC3	55841	broad.mit.edu	37	X	10058810	10058810	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chrX:10058810G>A	ENST00000380861.4	+	6	768		c.e6-1		WWC3_ENST00000454666.1_Splice_Site	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3						negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GTTTTAACTAGGATTGATCGG	0.423																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.e6-1		WWC family member 3							77.0	68.0	71.0					X																	10058810		2203	4300	6503	SO:0001630	splice_region_variant	55841							g.chrX:10058810G>A	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.378-1G>A	X.37:g.10058810G>A						WWC3_ENST00000454666.1_Splice_Site		NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			6	768	+								A8KA96|Q659C1|Q9BTQ1	Splice_Site	SNP	ENST00000380861.4	37		CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638663	0.47153	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2464	0.87029	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WWC3	10018810	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	9.284000	0.95882	2.082000	0.62665	0.506000	0.49869	.		0.423	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	Intron	9	13	0	0	0	0.047766	0	9	13				
AIM2	9447	broad.mit.edu	37	1	159035790	159035790	+	Silent	SNP	A	A	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:159035790A>T	ENST00000368130.4	-	4	1014	c.726T>A	c.(724-726)atT>atA	p.I242I	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	242	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CTTTTCTGATAATGTTCAGCG	0.428																																						ENST00000368130.4																			0				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.(724-726)atT>atA		absent in melanoma 2							110.0	105.0	107.0					1																	159035790		2203	4300	6503	SO:0001819	synonymous_variant	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159035790A>T	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.726T>A	1.37:g.159035790A>T						AIM2_ENST00000481829.1_Intron	p.I242I	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN			4	1014	-	all_hematologic(112;0.0429)		242			HIN-200.		A8K7M7|Q5T3V9|Q96FG9	Silent	SNP	ENST00000368130.4	37	c.726T>A	CCDS1181.1																																																																																				0.428	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		10	58	0	0	0	0.069234	0	10	58				
CCDC185	164127	broad.mit.edu	37	1	223566906	223566906	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:223566906G>A	ENST00000366875.3	+	1	192	c.89G>A	c.(88-90)cGg>cAg	p.R30Q		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		30										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCACGCAGCGGCTGGGCGGG	0.736																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(88-90)cGg>cAg		chromosome 1 open reading frame 65							6.0	8.0	7.0					1																	223566906		1905	3874	5779	SO:0001583	missense	164127							g.chr1:223566906G>A																												ENST00000366875.3:c.89G>A	1.37:g.223566906G>A	ENSP00000355840:p.Arg30Gln						p.R30Q	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	192	+			30					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.89G>A	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	G	7.416	0.635725	0.14322	.	.	ENSG00000178395	ENST00000366875	T	0.18338	2.22	3.53	-5.78	0.02362	.	.	.	.	.	T	0.04588	0.0125	N	0.04880	-0.145	0.09310	N	1	B	0.23490	0.086	B	0.12837	0.008	T	0.39800	-0.9596	9	0.13108	T	0.6	.	0.689	0.00888	0.4195:0.1366:0.1682:0.2757	.	30	Q8N715	CA065_HUMAN	Q	30	ENSP00000355840:R30Q	ENSP00000355840:R30Q	R	+	2	0	C1orf65	221633529	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.534000	0.06150	-0.871000	0.04042	-1.114000	0.02060	CGG		0.736	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			4	10	0	0	0	0.014758	0	4	10				
CORIN	10699	broad.mit.edu	37	4	47809012	47809012	+	Missense_Mutation	SNP	G	G	A	rs571200712		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr4:47809012G>A	ENST00000273857.4	-	2	115	c.116C>T	c.(115-117)gCg>gTg	p.A39V	CORIN_ENST00000504584.1_Missense_Mutation_p.A39V|CORIN_ENST00000505909.1_Missense_Mutation_p.A39V|CORIN_ENST00000502252.1_Missense_Mutation_p.A39V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	39					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTTAGCAGTCGCCAGCTTCTG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		17746	0.0		0.0	False		,,,				2504	0.001					ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(115-117)gCg>gTg		corin, serine peptidase							111.0	92.0	98.0					4																	47809012		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47809012G>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.116C>T	4.37:g.47809012G>A	ENSP00000273857:p.Ala39Val					CORIN_ENST00000504584.1_Missense_Mutation_p.A39V|CORIN_ENST00000502252.1_Missense_Mutation_p.A39V|CORIN_ENST00000505909.1_Missense_Mutation_p.A39V	p.A39V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			2	115	-			39					B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.116C>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	6.028	0.373565	0.11409	.	.	ENSG00000145244	ENST00000273857;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D	0.93076	-2.62;-2.65;-2.55;-3.16	4.95	3.1	0.35709	.	0.387908	0.23581	N	0.046658	D	0.83774	0.5327	N	0.20986	0.625	0.25125	N	0.990616	B;B;B;B	0.19445	0.021;0.036;0.001;0.021	B;B;B;B	0.10450	0.005;0.005;0.002;0.005	T	0.66143	-0.5997	10	0.02654	T	1	.	8.5217	0.33279	0.2674:0.0:0.7326:0.0	.	39;39;39;39	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	V	39	ENSP00000273857:A39V;ENSP00000424212:A39V;ENSP00000425401:A39V;ENSP00000423216:A39V	ENSP00000273857:A39V	A	-	2	0	CORIN	47503769	0.374000	0.25081	0.314000	0.25224	0.014000	0.08584	0.562000	0.23531	0.571000	0.29365	-0.355000	0.07637	GCG		0.453	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			5	25	0	0	0	0.021553	0	5	25				
POU3F4	5456	broad.mit.edu	37	X	82763400	82763400	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chrX:82763400C>T	ENST00000373200.2	+	1	132	c.68C>T	c.(67-69)gCg>gTg	p.A23V	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	23					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCGGACTCTGCGGGCATGCAG	0.557																																						ENST00000373200.2																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						c.(67-69)gCg>gTg		POU class 3 homeobox 4							60.0	44.0	49.0					X																	82763400		2203	4300	6503	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82763400C>T	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.68C>T	X.37:g.82763400C>T	ENSP00000362296:p.Ala23Val					RP3-326L13.2_ENST00000607095.1_RNA	p.A23V	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN			1	132	+			23					B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.68C>T	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507926	0.27036	.	.	ENSG00000196767	ENST00000373200	D	0.85339	-1.97	4.46	2.68	0.31781	.	0.780519	0.12106	N	0.499023	T	0.77512	0.4141	L	0.43152	1.355	0.30531	N	0.767442	B	0.30439	0.279	B	0.17979	0.02	T	0.71434	-0.4594	10	0.56958	D	0.05	.	8.8464	0.35172	0.0:0.8059:0.0:0.1941	.	23	P49335	PO3F4_HUMAN	V	23	ENSP00000362296:A23V	ENSP00000362296:A23V	A	+	2	0	POU3F4	82650056	1.000000	0.71417	0.784000	0.31847	0.815000	0.46073	2.100000	0.41777	0.441000	0.26529	-0.196000	0.12772	GCG		0.557	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		3	18	0	0	0	0.009096	0	3	18				
RCHY1	25898	broad.mit.edu	37	4	76417113	76417113	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr4:76417113G>T	ENST00000324439.5	-	5	834	c.436C>A	c.(436-438)Cca>Aca	p.P146T	RCHY1_ENST00000514021.1_5'Flank|RCHY1_ENST00000513257.1_Missense_Mutation_p.P146T|RCHY1_ENST00000380840.2_Missense_Mutation_p.P106T|RCHY1_ENST00000512706.1_Missense_Mutation_p.P124T|RCHY1_ENST00000451788.1_Missense_Mutation_p.P146T	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	146					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAACATATTGGACAATTCTGT	0.284																																						ENST00000324439.5																			0				large_intestine(2)|pancreas(1)	3						c.(436-438)Cca>Aca		ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase							55.0	58.0	57.0					4																	76417113		2198	4291	6489	SO:0001583	missense	25898				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:76417113G>T	AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"""RING-type (C3HC4) zinc fingers"""	17479	protein-coding gene	gene with protein product	"""androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""zinc finger, CHY-type"""	607680	"""zinc finger protein 363"", ""ring finger and CHY zinc finger domain containing 1"""	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.436C>A	4.37:g.76417113G>T	ENSP00000321239:p.Pro146Thr					RCHY1_ENST00000512706.1_Missense_Mutation_p.P124T|RCHY1_ENST00000380840.2_Missense_Mutation_p.P106T|RCHY1_ENST00000451788.1_Missense_Mutation_p.P146T|RCHY1_ENST00000513257.1_Missense_Mutation_p.P146T	p.P146T	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		5	834	-			146					B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Missense_Mutation	SNP	ENST00000324439.5	37	c.436C>A	CCDS3567.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959368	0.74016	.	.	ENSG00000163743	ENST00000324439;ENST00000451788;ENST00000380840;ENST00000512706;ENST00000513257;ENST00000507014	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.34	4.34	0.51931	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;1.0	T	0.69045	-0.5249	10	0.87932	D	0	-10.7004	14.3909	0.66978	0.0:0.0:1.0:0.0	.	106;146;124;146;146;146	E7EMC8;Q2KN33;E7ETW5;Q96PM5-2;Q96PM5;G3FDP4	.;.;.;.;ZN363_HUMAN;.	T	146;146;106;124;146;106	ENSP00000321239:P146T;ENSP00000401041:P146T;ENSP00000370220:P106T;ENSP00000423976:P124T	ENSP00000321239:P146T	P	-	1	0	RCHY1	76636137	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.464000	0.73534	2.246000	0.74042	0.460000	0.39030	CCA		0.284	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		12	35	1	0	1.33834e-09	0.043863	2.00751e-09	12	35				
IL10RA	3587	broad.mit.edu	37	11	117864087	117864087	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr11:117864087T>C	ENST00000227752.3	+	4	619	c.499T>C	c.(499-501)Tat>Cat	p.Y167H	IL10RA_ENST00000545409.1_Missense_Mutation_p.Y18H|IL10RA_ENST00000541785.1_Missense_Mutation_p.Y147H|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	167					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CTTCCGAGAGTATGAGATTGC	0.567																																						ENST00000227752.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19						c.(499-501)Tat>Cat		interleukin 10 receptor, alpha							91.0	81.0	84.0					11																	117864087		2200	4296	6496	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117864087T>C	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.499T>C	11.37:g.117864087T>C	ENSP00000227752:p.Tyr167His					IL10RA_ENST00000545409.1_Missense_Mutation_p.Y18H|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.Y147H	p.Y167H	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	4	619	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	167					A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.499T>C	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299383	0.81136	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.61158	0.13;0.13;0.13	5.73	5.73	0.89815	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.277263	0.36591	N	0.002518	T	0.73830	0.3637	M	0.71581	2.175	0.34192	D	0.672172	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82950	-0.0203	10	0.72032	D	0.01	-18.2164	12.4071	0.55445	0.0:0.0:0.0:1.0	.	147;167	F5GYV8;Q13651	.;I10R1_HUMAN	H	167;147;18;147	ENSP00000227752:Y167H;ENSP00000441397:Y147H;ENSP00000443019:Y18H	ENSP00000227752:Y167H	Y	+	1	0	IL10RA	117369297	1.000000	0.71417	0.386000	0.26170	0.991000	0.79684	3.633000	0.54295	2.180000	0.69256	0.533000	0.62120	TAT		0.567	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			3	55	0	0	0	0.004672	0	3	55				
PDZD2	23037	broad.mit.edu	37	5	31983565	31983565	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr5:31983565G>A	ENST00000438447.1	+	3	1169	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	PDZD2_ENST00000282493.3_Missense_Mutation_p.G261S			O15018	PDZD2_HUMAN	PDZ domain containing 2	261					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACTTGGAAACGGCCATGTCTT	0.557																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(781-783)Ggc>Agc		PDZ domain containing 2							63.0	64.0	64.0					5																	31983565		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983565G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.781G>A	5.37:g.31983565G>A	ENSP00000402033:p.Gly261Ser					PDZD2_ENST00000282493.3_Missense_Mutation_p.G261S	p.G261S			O15018	PDZD2_HUMAN			3	1169	+			261					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.781G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.549927	0.27652	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07327	3.2;3.2	4.19	4.19	0.49359	.	0.000000	0.47852	D	0.000201	T	0.05227	0.0139	L	0.29908	0.895	0.34159	D	0.668478	P;B	0.48640	0.913;0.087	B;B	0.31191	0.125;0.032	T	0.33777	-0.9855	10	0.45353	T	0.12	.	12.329	0.55028	0.0:0.0:1.0:0.0	.	87;261	B4E3P2;O15018	.;PDZD2_HUMAN	S	261	ENSP00000402033:G261S;ENSP00000282493:G261S	ENSP00000282493:G261S	G	+	1	0	PDZD2	32019322	0.025000	0.19082	0.887000	0.34795	0.254000	0.26022	-0.246000	0.08878	2.620000	0.88729	0.650000	0.86243	GGC		0.557	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			4	74	0	0	0	0.009096	0	4	74				
TUBA3C	7278	broad.mit.edu	37	13	19748253	19748253	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr13:19748253A>T	ENST00000400113.3	-	5	1207	c.1103T>A	c.(1102-1104)cTg>cAg	p.L368Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	368					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CACCTTGGCCAGGTCTCCCCC	0.582																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(1102-1104)cTg>cAg		tubulin, alpha 3c							58.0	56.0	57.0					13																	19748253		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748253A>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1103T>A	13.37:g.19748253A>T	ENSP00000382982:p.Leu368Gln						p.L368Q	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1207	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	368					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1103T>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	a	11.73	1.725571	0.30593	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.85484	-1.99	1.22	1.22	0.21188	.	0.000000	0.38605	U	0.001636	D	0.85864	0.5796	.	.	.	0.45108	D	0.99812	.	.	.	.	.	.	D	0.84239	0.0471	7	0.87932	D	0	.	6.5693	0.22529	1.0:0.0:0.0:0.0	.	.	.	.	Q	368	ENSP00000382982:L368Q	ENSP00000354037:L368Q	L	-	2	0	TUBA3C	18646253	1.000000	0.71417	0.999000	0.59377	0.670000	0.39368	7.534000	0.82004	0.813000	0.34350	0.163000	0.16589	CTG		0.582	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		16	53	0	0	0	0.028581	0	16	53				
JAKMIP3	282973	broad.mit.edu	37	10	133949433	133949433	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr10:133949433G>T	ENST00000298622.4	+	5	1107		c.e5-1			NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3							Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TTGTCTTTCAGTTGAAGCGCG	0.507																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.e5-1		Janus kinase and microtubule interacting protein 3							55.0	61.0	59.0					10																	133949433		2022	4173	6195	SO:0001630	splice_region_variant	282973							g.chr10:133949433G>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.970-1G>T	10.37:g.133949433G>T								NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	5	1107	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Splice_Site	SNP	ENST00000298622.4	37		CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741026	0.49151	.	.	ENSG00000188385	ENST00000298622	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8328	0.85949	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	JAKMIP3	133799423	1.000000	0.71417	0.983000	0.44433	0.307000	0.27823	9.087000	0.94110	2.210000	0.71456	0.650000	0.86243	.		0.507	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303	Intron	3	12	1	0	0.004672	0.004672	0.0065408	3	12				
CARD11	84433	broad.mit.edu	37	7	2984130	2984130	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr7:2984130C>T	ENST00000396946.4	-	5	803	c.400G>A	c.(400-402)Gag>Aag	p.E134K	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	134			E -> G (in PPBL; results in protein aggregation and constitutive NFKB activation). {ECO:0000269|PubMed:23129749}.		Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGATGACCTCGTTCATCAGG	0.602			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(400-402)Gag>Aag		caspase recruitment domain family, member 11							78.0	72.0	74.0					7																	2984130		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2984130C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.400G>A	7.37:g.2984130C>T	ENSP00000380150:p.Glu134Lys					AC004906.3_ENST00000423194.1_RNA	p.E134K	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	803	-		Ovarian(82;0.0115)	134					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.400G>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	34	5.293420	0.95546	.	.	ENSG00000198286	ENST00000396946	T	0.45668	0.89	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.69691	-0.5077	10	0.66056	D	0.02	-31.5717	17.0013	0.86382	0.0:1.0:0.0:0.0	.	134	Q9BXL7	CAR11_HUMAN	K	134	ENSP00000380150:E134K	ENSP00000380150:E134K	E	-	1	0	CARD11	2950656	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.071000	0.62044	0.655000	0.94253	GAG		0.602	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		12	39	0	0	0	0.080935	0	12	39				
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																						ENST00000445430.1																			0																																																			0							g.chr3:195400795C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400795C>T														0	1391	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	16	0	0	0	0.004672	0	3	16				
HIST1H2AI	8329	broad.mit.edu	37	6	27776019	27776019	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:27776019C>T	ENST00000358739.3	+	1	121	c.32C>T	c.(31-33)gCt>gTt	p.A11V	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2BL_ENST00000377401.2_5'Flank	NM_003509.2	NP_003500.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ai	11						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			lung(3)	3						GGAGGCAAAGCTCGCGCCAAG	0.547																																						ENST00000358739.3																			0				lung(3)	3						c.(31-33)gCt>gTt		histone cluster 1, H2ai							60.0	70.0	67.0					6																	27776019		2201	4300	6501	SO:0001583	missense	8329							g.chr6:27776019C>T	Z83742	CCDS4626.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196747	ENSG00000196747		"""Histones / Replication-dependent"""	4725	protein-coding gene	gene with protein product		602787	"""H2A histone family, member C"", ""histone 1, H2ai"""	H2AFC		9439656, 12408966	Standard	NM_003509		Approved	H2A/c		P0C0S8	OTTHUMG00000014484	ENST00000358739.3:c.32C>T	6.37:g.27776019C>T	ENSP00000351589:p.Ala11Val						p.A11V	NM_003509.2	NP_003500.1					1	121	+								P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000358739.3	37	c.32C>T	CCDS4626.1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.251025	0.39797	.	.	ENSG00000196747	ENST00000358739	T	0.48522	0.81	4.34	4.34	0.51931	.	0.000000	0.39909	N	0.001232	T	0.40094	0.1103	.	.	.	0.35104	D	0.765483	.	.	.	.	.	.	T	0.37033	-0.9723	7	0.40728	T	0.16	.	10.4839	0.44711	0.0:0.908:0.0:0.092	.	.	.	.	V	11	ENSP00000351589:A11V	ENSP00000351589:A11V	A	+	2	0	HIST1H2AI	27883998	0.882000	0.30256	1.000000	0.80357	0.384000	0.30261	1.741000	0.38238	2.351000	0.79841	0.549000	0.68633	GCT		0.547	HIST1H2AI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040152.1	NM_003509		19	82	0	0	0	0.055883	0	19	82				
NLRP10	338322	broad.mit.edu	37	11	7982637	7982637	+	Silent	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr11:7982637C>T	ENST00000328600.2	-	2	683	c.522G>A	c.(520-522)tcG>tcA	p.S174S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	174	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGTGCCAGCCGACCCCTGTA	0.542																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(520-522)tcG>tcA		NLR family, pyrin domain containing 10							52.0	54.0	53.0					11																	7982637		2201	4296	6497	SO:0001819	synonymous_variant	338322						ATP binding	g.chr11:7982637C>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.522G>A	11.37:g.7982637C>T							p.S174S	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	683	-			174			NACHT.		Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	c.522G>A	CCDS7784.1																																																																																				0.542	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		6	28	0	0	0	0.021553	0	6	28				
ROBO2	6092	broad.mit.edu	37	3	77693942	77693942	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr3:77693942C>G	ENST00000461745.1	+	25	4922	c.4022C>G	c.(4021-4023)aCt>aGt	p.T1341S	ROBO2_ENST00000487694.3_Missense_Mutation_p.T1357S|ROBO2_ENST00000332191.8_Missense_Mutation_p.T1402S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1341					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGGGATCCACTGGACCTAGG	0.517																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(4021-4023)aCt>aGt		roundabout, axon guidance receptor, homolog 2 (Drosophila)							89.0	91.0	90.0					3																	77693942		2026	4174	6200	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77693942C>G	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.4022C>G	3.37:g.77693942C>G	ENSP00000417164:p.Thr1341Ser					ROBO2_ENST00000487694.3_Missense_Mutation_p.T1357S|ROBO2_ENST00000332191.8_Missense_Mutation_p.T1402S	p.T1341S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	25	4922	+			1341					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.4022C>G	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.038701|4.038701	0.75617|0.75617	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000475334;ENST00000490534|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.|T;T;T	.|0.65916	.|-0.18;-0.15;-0.11	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.47455	.|D	.|0.000240	T|T	0.63954|0.63954	0.2555|0.2555	N|N	0.08118|0.08118	0|0	.|0.31090	.|N	.|0.710863	.|D;D;D	.|0.67145	.|0.993;0.996;0.993	.|D;D;D	.|0.73380	.|0.956;0.98;0.956	T|T	0.65553|0.65553	-0.6140|-0.6140	4|9	.|0.29301	.|T	.|0.29	.|.	20.168|20.168	0.98156|0.98156	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1357;1402;1341	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	Q|S	172;160|1357;1357;1341;1402	.|ENSP00000417335:T1357S;ENSP00000417164:T1341S;ENSP00000327536:T1402S	.|ENSP00000327536:T1402S	H|T	+|+	3|2	2|0	ROBO2|ROBO2	77776632|77776632	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.374000|0.374000	0.29953|0.29953	7.251000|7.251000	0.78297|0.78297	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	CAC|ACT		0.517	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		5	62	0	0	0	0.014758	0	5	62				
DNAJB5	25822	broad.mit.edu	37	9	34997172	34997172	+	Silent	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr9:34997172C>T	ENST00000541010.1	+	3	3975	c.963C>T	c.(961-963)ctC>ctT	p.L321L	DNAJB5_ENST00000453597.3_Silent_p.L435L|DNAJB5_ENST00000454002.2_Silent_p.L393L|DNAJB5_ENST00000545841.1_Silent_p.L321L|DNAJB5_ENST00000335998.3_Silent_p.L355L|DNAJB5_ENST00000312316.5_Silent_p.L321L			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	321					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAGGAGACCTCATTGTTGAGT	0.547																																						ENST00000541010.1																			0				kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12						c.(961-963)ctC>ctT		DnaJ (Hsp40) homolog, subfamily B, member 5							135.0	132.0	133.0					9																	34997172		2203	4300	6503	SO:0001819	synonymous_variant	25822				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding	g.chr9:34997172C>T	AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.963C>T	9.37:g.34997172C>T						DNAJB5_ENST00000454002.2_Silent_p.L393L|DNAJB5_ENST00000453597.3_Silent_p.L435L|DNAJB5_ENST00000545841.1_Silent_p.L321L|DNAJB5_ENST00000312316.5_Silent_p.L321L|DNAJB5_ENST00000335998.3_Silent_p.L355L	p.L321L			O75953	DNJB5_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		3	3975	+			321					B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Silent	SNP	ENST00000541010.1	37	c.963C>T	CCDS35007.1																																																																																				0.547	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401397.1			33	54	0	0	0	0.059317	0	33	54				
UQCR10	29796	broad.mit.edu	37	22	30163414	30163414	+	Silent	SNP	A	A	G	rs17849991		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr22:30163414A>G	ENST00000330029.6	+	1	57	c.27A>G	c.(25-27)aaA>aaG	p.K9K	UQCR10_ENST00000401406.3_Silent_p.K9K|ZMAT5_ENST00000344318.3_5'Flank|ZMAT5_ENST00000397781.3_5'Flank	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	9					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						TGACTTCGAAATTGTACTCCC	0.627																																						ENST00000330029.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						c.(25-27)aaA>aaG		ubiquinol-cytochrome c reductase, complex III subunit X							53.0	61.0	59.0					22																	30163414		2053	4193	6246	SO:0001819	synonymous_variant	29796				mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity	g.chr22:30163414A>G	AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076		"""Mitochondrial respiratory chain complex / Complex III"""	30863	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa"", ""complex III subunit 9"""	610843				11042152	Standard	NM_013387		Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000330029.6:c.27A>G	22.37:g.30163414A>G						UQCR10_ENST00000401406.3_Silent_p.K9K	p.K9K	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN			1	57	+			9					B5MCM5|Q9T2V6	Silent	SNP	ENST00000330029.6	37	c.27A>G	CCDS46680.1																																																																																				0.627	UQCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322081.1	NM_013387		5	25	0	0	0	0.029380	0	5	25				
CA8	767	broad.mit.edu	37	8	61178528	61178528	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr8:61178528G>A	ENST00000317995.4	-	3	637	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	125					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	TCAGAACCACGCTGGTTTTCT	0.383																																						ENST00000317995.4																			0				endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16						c.(373-375)Cgt>Tgt		carbonic anhydrase VIII							79.0	76.0	77.0					8																	61178528		2203	4300	6503	SO:0001583	missense	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61178528G>A	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.373C>T	8.37:g.61178528G>A	ENSP00000314407:p.Arg125Cys						p.R125C	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN			3	637	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	125					A8K0A5|B3KQZ7|Q32MY2	Missense_Mutation	SNP	ENST00000317995.4	37	c.373C>T	CCDS6174.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.310698	0.81358	.	.	ENSG00000178538	ENST00000317995	T	0.68025	-0.3	5.58	5.58	0.84498	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	D	0.83128	0.5187	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81788	-0.0772	10	0.37606	T	0.19	.	19.5923	0.95520	0.0:0.0:1.0:0.0	.	125	P35219	CAH8_HUMAN	C	125	ENSP00000314407:R125C	ENSP00000314407:R125C	R	-	1	0	CA8	61341082	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.197000	0.72100	2.644000	0.89710	0.557000	0.71058	CGT		0.383	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			5	24	0	0	0	0.029380	0	5	24				
CDX1	1044	broad.mit.edu	37	5	149562382	149562382	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr5:149562382G>T	ENST00000231656.8	+	2	579	c.497G>T	c.(496-498)cGc>cTc	p.R166L		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	166					anterior/posterior pattern specification (GO:0009952)|bone morphogenesis (GO:0060349)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACCACCAACGCCTGGAGCTG	0.567																																						ENST00000231656.8																			0				central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5						c.(496-498)cGc>cTc		caudal type homeobox 1							151.0	151.0	151.0					5																	149562382		2203	4300	6503	SO:0001583	missense	1044					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:149562382G>T	U51095	CCDS4304.1	5q32	2012-03-09	2007-07-09		ENSG00000113722	ENSG00000113722		"""Homeoboxes / ANTP class : HOXL subclass"""	1805	protein-coding gene	gene with protein product		600746	"""caudal type homeo box transcription factor 1"""			8530027	Standard	NM_001804		Approved		uc003lrq.3	P47902	OTTHUMG00000169772	ENST00000231656.8:c.497G>T	5.37:g.149562382G>T	ENSP00000231656:p.Arg166Leu						p.R166L	NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	579	+		all_hematologic(541;0.224)	166					Q4VAU4|Q9NYK8	Missense_Mutation	SNP	ENST00000231656.8	37	c.497G>T	CCDS4304.1	.	.	.	.	.	.	.	.	.	.	G	36	5.702800	0.96812	.	.	ENSG00000113722	ENST00000231656;ENST00000377812	D	0.94687	-3.49	5.87	5.87	0.94306	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.122961	0.56097	D	0.000032	D	0.93700	0.7987	N	0.04260	-0.245	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95546	0.8616	10	0.72032	D	0.01	-13.975	20.2079	0.98282	0.0:0.0:1.0:0.0	.	166	P47902	CDX1_HUMAN	L	166;55	ENSP00000231656:R166L	ENSP00000231656:R166L	R	+	2	0	CDX1	149542575	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.787000	0.99055	2.781000	0.95711	0.655000	0.94253	CGC		0.567	CDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252328.7	NM_001804		58	127	1	0	3.21867e-24	0.048971	4.8835e-24	58	127				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	45	0	0	0	0.009096	0	4	45				
GP5	2814	broad.mit.edu	37	3	194118889	194118889	+	Silent	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr3:194118889C>T	ENST00000401815.1	-	1	194	c.123G>A	c.(121-123)gcG>gcA	p.A41A	GP5_ENST00000323007.3_Silent_p.A41A			P40197	GPV_HUMAN	glycoprotein V (platelet)	41	LRRNT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CGGAGATGCGCGCCACGTCGC	0.706																																						ENST00000401815.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35						c.(121-123)gcG>gcA		glycoprotein V (platelet)							29.0	30.0	30.0					3																	194118889		2190	4286	6476	SO:0001819	synonymous_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194118889C>T	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.123G>A	3.37:g.194118889C>T						GP5_ENST00000323007.3_Silent_p.A41A	p.A41A			P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	1	194	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	41			LRRNT.		D1MER9	Silent	SNP	ENST00000401815.1	37	c.123G>A	CCDS3307.1																																																																																				0.706	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		13	28	0	0	0	0.020292	0	13	28				
SLC16A12	387700	broad.mit.edu	37	10	91222287	91222287	+	5'UTR	SNP	A	A	C	rs3740030	byFrequency	TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr10:91222287A>C	ENST00000341233.4	-	0	349				RP11-168O10.6_ENST00000423474.1_RNA|SLC16A12_ENST00000371790.4_Missense_Mutation_p.W17G|RP11-168O10.6_ENST00000454270.1_RNA	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TCCAACAGCCAAGTTATGATC	0.478													A|||	345	0.0688898	0.0045	0.0375	5008	,	,		19194	0.2242		0.0736	False		,,,				2504	0.0133					ENST00000371790.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						c.(49-51)Tgg>Ggg		solute carrier family 16, member 12		A	GLY/TRP	97,4309	61.1+/-98.1	2,93,2108	39.0	37.0	38.0		49	0.6	0.5	10	dbSNP_107	38	731,7869	140.3+/-196.8	37,657,3606	yes	missense	SLC16A12	NM_213606.3	184	39,750,5714	CC,CA,AA		8.5,2.2015,6.3663		17/517	91222287	828,12178	2203	4300	6503	SO:0001623	5_prime_UTR_variant	387700					integral to membrane|plasma membrane	symporter activity	g.chr10:91222287A>C		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.-42T>G	10.37:g.91222287A>C						RP11-168O10.6_ENST00000454270.1_RNA|SLC16A12_ENST00000341233.4_5'UTR	p.W17G			Q6ZSM3	MOT12_HUMAN			3	349	-			0					Q5M9M9|Q5T7J2|Q6ZV76	Missense_Mutation	SNP	ENST00000341233.4	37	c.49T>G		196	0.08974358974358974	1	0.0020325203252032522	18	0.049723756906077346	121	0.21153846153846154	56	0.07387862796833773	A	7.041	0.562625	0.13498	0.022015	0.085	ENSG00000152779	ENST00000371790;ENST00000475682	T	0.18657	2.2	5.66	0.616	0.17613	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.51233	P	8.20000000000265E-5	.	.	.	.	.	.	T	0.45396	-0.9264	6	0.26408	T	0.33	.	9.0335	0.36273	0.2463:0.6418:0.0:0.1119	rs3740030;rs17122031;rs56505202;rs59939587;rs3740030	.	.	.	G	17	ENSP00000360855:W17G	ENSP00000360855:W17G	W	-	1	0	SLC16A12	91212267	0.766000	0.28496	0.496000	0.27539	0.171000	0.22731	0.772000	0.26647	0.530000	0.28619	-0.265000	0.10407	TGG		0.478	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_213606		2	11	0	0	0	0.004672	0	2	11				
PCDHB7	56129	broad.mit.edu	37	5	140553676	140553676	+	Silent	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr5:140553676C>T	ENST00000231137.3	+	1	1434	c.1260C>T	c.(1258-1260)acC>acT	p.T420T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	420	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACATCACCATCACCGTCA	0.512																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1258-1260)acC>acT									142.0	128.0	133.0					5																	140553676		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553676C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1260C>T	5.37:g.140553676C>T							p.T420T	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1434	+			420			Cadherin 4.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1260C>T	CCDS4249.1																																																																																				0.512	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		4	70	0	0	0	0.021553	0	4	70				
TTC6	319089	broad.mit.edu	37	14	38277950	38277950	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr14:38277950G>A	ENST00000476979.1	+	6	657	c.370G>A	c.(370-372)Gca>Aca	p.A124T	TTC6_ENST00000267368.7_Missense_Mutation_p.A124T|TTC6_ENST00000553443.1_Missense_Mutation_p.A1490T|TTC6_ENST00000382320.3_Missense_Mutation_p.A204T			Q86TZ1	TTC6_HUMAN	tetratricopeptide repeat domain 6	124										central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		TTATAAGCTAGCAATTACAGA	0.274																																						ENST00000553443.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14						c.(4468-4470)Gca>Aca		tetratricopeptide repeat domain 6							102.0	108.0	106.0					14																	38277950		2200	4280	6480	SO:0001583	missense	319089							g.chr14:38277950G>A	BC014342		14q13.1	2013-01-10			ENSG00000139865	ENSG00000139865		"""Tetratricopeptide (TTC) repeat domain containing"""	19739	protein-coding gene	gene with protein product			"""non-protein coding RNA 291"", ""chromosome 14 open reading frame 25"""	NCRNA00291, C14orf25			Standard	XM_006709976		Approved		uc001wuj.3	Q86TZ1	OTTHUMG00000157369	ENST00000476979.1:c.370G>A	14.37:g.38277950G>A	ENSP00000417788:p.Ala124Thr					TTC6_ENST00000476979.1_Missense_Mutation_p.A124T|TTC6_ENST00000267368.7_Missense_Mutation_p.A124T|TTC6_ENST00000382320.3_Missense_Mutation_p.A204T	p.A1490T					Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)	24	4468	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)							Q3SY88|Q96CE6	Missense_Mutation	SNP	ENST00000476979.1	37	c.4468G>A		.	.	.	.	.	.	.	.	.	.	G	25.7	4.669086	0.88348	.	.	ENSG00000139865	ENST00000553443;ENST00000476979;ENST00000267368;ENST00000382320	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.65	5.65	0.86999	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.070483	0.56097	D	0.000039	D	0.94522	0.8236	.	.	.	0.29224	N	0.8737159999999999	D;D	0.89917	1.0;0.997	D;D	0.80764	0.994;0.951	D	0.94874	0.8033	8	0.87932	D	0	-4.4848	16.6508	0.85188	0.0:0.0:1.0:0.0	.	1490;124	G3V3A5;Q86TZ1	.;TTC6_HUMAN	T	1490;124;124;204	ENSP00000451131:A1490T;ENSP00000417788:A124T;ENSP00000267368:A124T;ENSP00000371757:A204T	ENSP00000267368:A124T	A	+	1	0	TTC6	37347701	0.997000	0.39634	0.975000	0.42487	0.989000	0.77384	4.779000	0.62375	2.670000	0.90874	0.467000	0.42956	GCA		0.274	TTC6-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000348621.2	XM_002343299		29	58	0	0	0	0.037714	0	29	58				
CDC5L	988	broad.mit.edu	37	6	44371735	44371735	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr6:44371735A>T	ENST00000371477.3	+	6	1028	c.729A>T	c.(727-729)agA>agT	p.R243S		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	243	Nuclear localization signal. {ECO:0000255}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAAATTAAGACAACAGGATC	0.398																																						ENST00000371477.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(727-729)agA>agT		cell division cycle 5-like							63.0	65.0	64.0					6																	44371735		2203	4300	6503	SO:0001583	missense	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44371735A>T	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.729A>T	6.37:g.44371735A>T	ENSP00000360532:p.Arg243Ser						p.R243S	NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	1028	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		243					Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	c.729A>T	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	A	15.18	2.755782	0.49362	.	.	ENSG00000096401	ENST00000371477	T	0.45668	0.89	6.04	2.06	0.26882	.	0.000000	0.85682	D	0.000000	T	0.10809	0.0264	L	0.41356	1.27	0.80722	D	1	B	0.29988	0.264	B	0.24974	0.057	T	0.10730	-1.0617	10	0.25751	T	0.34	-19.5698	1.1329	0.01749	0.4341:0.2203:0.2187:0.1268	.	243	Q99459	CDC5L_HUMAN	S	243	ENSP00000360532:R243S	ENSP00000360532:R243S	R	+	3	2	CDC5L	44479713	0.905000	0.30787	1.000000	0.80357	0.997000	0.91878	-0.014000	0.12656	0.493000	0.27837	0.460000	0.39030	AGA		0.398	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1			16	32	0	0	0	0.043863	0	16	32				
TNP2	7142	broad.mit.edu	37	16	11363130	11363130	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr16:11363130G>A	ENST00000312693.3	-	0	59				RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)						acrosome reaction (GO:0007340)|binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						AGGAGGCCACGTTTGGAGGGG	0.587																																						ENST00000312693.3																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6								transition protein 2 (during histone to protamine replacement)							45.0	51.0	49.0					16																	11363130		2050	4191	6241			7142				cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr16:11363130G>A		CCDS45410.1	16p13.13	2008-08-01				ENSG00000178279			11952	protein-coding gene	gene with protein product		190232				1395729, 2250010	Standard	NM_005425		Approved	TP2	uc002das.3	Q05952			16.37:g.11363130G>A						RMI2_ENST00000572173.1_Intron		NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN			0	59	-								Q9NZB0	Translation_Start_Site	SNP	ENST00000312693.3	37		CCDS45410.1																																																																																				0.587	TNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417806.1	NM_005425		4	44	0	0	0	0.009096	0	4	44				
SCN4A	6329	broad.mit.edu	37	17	62022975	62022975	+	Silent	SNP	G	G	A	rs566581547		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr17:62022975G>A	ENST00000435607.1	-	19	3541	c.3465C>T	c.(3463-3465)ggC>ggT	p.G1155G	SCN4A_ENST00000578147.1_Silent_p.G1155G	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1155					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGGGATGGCGCCTAGGAGGG	0.592													g|||	1	0.000199681	0.0	0.0	5008	,	,		16258	0.001		0.0	False		,,,				2504	0.0					ENST00000578147.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(3463-3465)ggC>ggT		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						133.0	137.0	136.0					17																	62022975		2200	4299	6499	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62022975G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3465C>T	17.37:g.62022975G>A						SCN4A_ENST00000435607.1_Silent_p.G1155G	p.G1155G			P35499	SCN4A_HUMAN			19	3541	-			1155					Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.3465C>T	CCDS45761.1																																																																																				0.592	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		25	120	0	0	0	0.091800	0	25	120				
NPY1R	4886	broad.mit.edu	37	4	164247226	164247226	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr4:164247226C>A	ENST00000296533.2	-	2	1012	c.481G>T	c.(481-483)Gtg>Ttg	p.V161L	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	161					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACCCAAATCACAGCAATACCT	0.433																																						ENST00000296533.2																			0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(481-483)Gtg>Ttg		neuropeptide Y receptor Y1							137.0	126.0	130.0					4																	164247226		2203	4300	6503	SO:0001583	missense	0				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164247226C>A		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.481G>T	4.37:g.164247226C>A	ENSP00000354652:p.Val161Leu					NPY1R_ENST00000509586.1_Intron	p.V161L	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN			2	1012	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	161					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.481G>T	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	C	4.347	0.063799	0.08388	.	.	ENSG00000164128	ENST00000296533	T	0.36340	1.26	5.84	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.362803	0.25161	N	0.032672	T	0.14442	0.0349	N	0.02391	-0.57	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.08597	-1.0714	10	0.08599	T	0.76	.	13.2854	0.60241	0.0:0.8093:0.123:0.0677	.	161	P25929	NPY1R_HUMAN	L	161	ENSP00000354652:V161L	ENSP00000354652:V161L	V	-	1	0	NPY1R	164466676	0.987000	0.35691	0.998000	0.56505	0.961000	0.63080	1.180000	0.32005	1.487000	0.48415	0.655000	0.94253	GTG		0.433	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1			13	25	1	0	7.03913e-09	0.093190	9.99102e-09	13	25				
WWC3	55841	broad.mit.edu	37	X	10058810	10058810	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chrX:10058810G>A	ENST00000380861.4	+	6	768		c.e6-1		WWC3_ENST00000454666.1_Splice_Site	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3						negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GTTTTAACTAGGATTGATCGG	0.423																																						ENST00000380861.4																			0				NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						c.e6-1		WWC family member 3							77.0	68.0	71.0					X																	10058810		2203	4300	6503	SO:0001630	splice_region_variant	55841							g.chrX:10058810G>A	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.378-1G>A	X.37:g.10058810G>A						WWC3_ENST00000454666.1_Splice_Site		NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN			6	768	+								A8KA96|Q659C1|Q9BTQ1	Splice_Site	SNP	ENST00000380861.4	37		CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638663	0.47153	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000398613	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2464	0.87029	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WWC3	10018810	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	9.284000	0.95882	2.082000	0.62665	0.506000	0.49869	.		0.423	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	Intron	9	13	0	0	0	0.047766	0	9	13				
AIM2	9447	broad.mit.edu	37	1	159035790	159035790	+	Silent	SNP	A	A	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr1:159035790A>T	ENST00000368130.4	-	4	1014	c.726T>A	c.(724-726)atT>atA	p.I242I	AIM2_ENST00000411768.1_5'Flank	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	242	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CTTTTCTGATAATGTTCAGCG	0.428																																						ENST00000368130.4																			0				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.(724-726)atT>atA		absent in melanoma 2							110.0	105.0	107.0					1																	159035790		2203	4300	6503	SO:0001819	synonymous_variant	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159035790A>T	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.726T>A	1.37:g.159035790A>T						AIM2_ENST00000481829.1_Intron	p.I242I	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN			4	1014	-	all_hematologic(112;0.0429)		242			HIN-200.		A8K7M7|Q5T3V9|Q96FG9	Silent	SNP	ENST00000368130.4	37	c.726T>A	CCDS1181.1																																																																																				0.428	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		10	58	0	0	0	0.069234	0	10	58				
CCDC185	164127	broad.mit.edu	37	1	223566906	223566906	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr1:223566906G>A	ENST00000366875.3	+	1	192	c.89G>A	c.(88-90)cGg>cAg	p.R30Q		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		30										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCACGCAGCGGCTGGGCGGG	0.736																																						ENST00000366875.3																			0				breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29						c.(88-90)cGg>cAg		chromosome 1 open reading frame 65							6.0	8.0	7.0					1																	223566906		1905	3874	5779	SO:0001583	missense	164127							g.chr1:223566906G>A																												ENST00000366875.3:c.89G>A	1.37:g.223566906G>A	ENSP00000355840:p.Arg30Gln						p.R30Q	NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN		GBM - Glioblastoma multiforme(131;0.0704)	1	192	+			30					Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	c.89G>A	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	G	7.416	0.635725	0.14322	.	.	ENSG00000178395	ENST00000366875	T	0.18338	2.22	3.53	-5.78	0.02362	.	.	.	.	.	T	0.04588	0.0125	N	0.04880	-0.145	0.09310	N	1	B	0.23490	0.086	B	0.12837	0.008	T	0.39800	-0.9596	9	0.13108	T	0.6	.	0.689	0.00888	0.4195:0.1366:0.1682:0.2757	.	30	Q8N715	CA065_HUMAN	Q	30	ENSP00000355840:R30Q	ENSP00000355840:R30Q	R	+	2	0	C1orf65	221633529	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.534000	0.06150	-0.871000	0.04042	-1.114000	0.02060	CGG		0.736	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			4	10	0	0	0	0.014758	0	4	10				
CORIN	10699	broad.mit.edu	37	4	47809012	47809012	+	Missense_Mutation	SNP	G	G	A	rs571200712		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr4:47809012G>A	ENST00000273857.4	-	2	115	c.116C>T	c.(115-117)gCg>gTg	p.A39V	CORIN_ENST00000504584.1_Missense_Mutation_p.A39V|CORIN_ENST00000505909.1_Missense_Mutation_p.A39V|CORIN_ENST00000502252.1_Missense_Mutation_p.A39V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	39					female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTTAGCAGTCGCCAGCTTCTG	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		17746	0.0		0.0	False		,,,				2504	0.001					ENST00000273857.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(115-117)gCg>gTg		corin, serine peptidase							111.0	92.0	98.0					4																	47809012		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47809012G>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.116C>T	4.37:g.47809012G>A	ENSP00000273857:p.Ala39Val					CORIN_ENST00000505909.1_Missense_Mutation_p.A39V|CORIN_ENST00000504584.1_Missense_Mutation_p.A39V|CORIN_ENST00000502252.1_Missense_Mutation_p.A39V	p.A39V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN			2	115	-			39					B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.116C>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	G	6.028	0.373565	0.11409	.	.	ENSG00000145244	ENST00000273857;ENST00000502252;ENST00000505909;ENST00000504584	D;D;D;D	0.93076	-2.62;-2.65;-2.55;-3.16	4.95	3.1	0.35709	.	0.387908	0.23581	N	0.046658	D	0.83774	0.5327	N	0.20986	0.625	0.25125	N	0.990616	B;B;B;B	0.19445	0.021;0.036;0.001;0.021	B;B;B;B	0.10450	0.005;0.005;0.002;0.005	T	0.66143	-0.5997	10	0.02654	T	1	.	8.5217	0.33279	0.2674:0.0:0.7326:0.0	.	39;39;39;39	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	V	39	ENSP00000273857:A39V;ENSP00000424212:A39V;ENSP00000425401:A39V;ENSP00000423216:A39V	ENSP00000273857:A39V	A	-	2	0	CORIN	47503769	0.374000	0.25081	0.314000	0.25224	0.014000	0.08584	0.562000	0.23531	0.571000	0.29365	-0.355000	0.07637	GCG		0.453	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2			5	25	0	0	0	0.021553	0	5	25				
POU3F4	5456	broad.mit.edu	37	X	82763400	82763400	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chrX:82763400C>T	ENST00000373200.2	+	1	132	c.68C>T	c.(67-69)gCg>gTg	p.A23V	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	23					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCGGACTCTGCGGGCATGCAG	0.557																																						ENST00000373200.2																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						c.(67-69)gCg>gTg		POU class 3 homeobox 4							60.0	44.0	49.0					X																	82763400		2203	4300	6503	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82763400C>T	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.68C>T	X.37:g.82763400C>T	ENSP00000362296:p.Ala23Val					RP3-326L13.2_ENST00000607095.1_RNA	p.A23V	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN			1	132	+			23					B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.68C>T	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.507926	0.27036	.	.	ENSG00000196767	ENST00000373200	D	0.85339	-1.97	4.46	2.68	0.31781	.	0.780519	0.12106	N	0.499023	T	0.77512	0.4141	L	0.43152	1.355	0.30531	N	0.767442	B	0.30439	0.279	B	0.17979	0.02	T	0.71434	-0.4594	10	0.56958	D	0.05	.	8.8464	0.35172	0.0:0.8059:0.0:0.1941	.	23	P49335	PO3F4_HUMAN	V	23	ENSP00000362296:A23V	ENSP00000362296:A23V	A	+	2	0	POU3F4	82650056	1.000000	0.71417	0.784000	0.31847	0.815000	0.46073	2.100000	0.41777	0.441000	0.26529	-0.196000	0.12772	GCG		0.557	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		3	18	0	0	0	0.009096	0	3	18				
RCHY1	25898	broad.mit.edu	37	4	76417113	76417113	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr4:76417113G>T	ENST00000324439.5	-	5	834	c.436C>A	c.(436-438)Cca>Aca	p.P146T	RCHY1_ENST00000514021.1_5'Flank|RCHY1_ENST00000513257.1_Missense_Mutation_p.P146T|RCHY1_ENST00000380840.2_Missense_Mutation_p.P106T|RCHY1_ENST00000512706.1_Missense_Mutation_p.P124T|RCHY1_ENST00000451788.1_Missense_Mutation_p.P146T	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	146					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAACATATTGGACAATTCTGT	0.284																																						ENST00000324439.5																			0				large_intestine(2)|pancreas(1)	3						c.(436-438)Cca>Aca		ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase							55.0	58.0	57.0					4																	76417113		2198	4291	6489	SO:0001583	missense	25898				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:76417113G>T	AF255666	CCDS3567.1, CCDS34012.1, CCDS63990.1, CCDS63991.1, CCDS63992.1	4q21.1-q21.3	2014-02-17	2012-02-23	2004-03-30	ENSG00000163743	ENSG00000163743		"""RING-type (C3HC4) zinc fingers"""	17479	protein-coding gene	gene with protein product	"""androgen-receptor N-terminal-interacting protein"", ""p53-induced protein with a RING-H2 domain"", ""zinc finger, CHY-type"""	607680	"""zinc finger protein 363"", ""ring finger and CHY zinc finger domain containing 1"""	ZNF363		12654245	Standard	NM_015436		Approved	CHIMP, DKFZp586C1620, PRO1996, RNF199, ARNIP, PIRH2, ZCHY	uc003hik.3	Q96PM5	OTTHUMG00000130105	ENST00000324439.5:c.436C>A	4.37:g.76417113G>T	ENSP00000321239:p.Pro146Thr					RCHY1_ENST00000451788.1_Missense_Mutation_p.P146T|RCHY1_ENST00000513257.1_Missense_Mutation_p.P146T|RCHY1_ENST00000512706.1_Missense_Mutation_p.P124T|RCHY1_ENST00000380840.2_Missense_Mutation_p.P106T	p.P146T	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		5	834	-			146					B3KRG3|C7E541|C7E542|C7E543|D3YRV2|E7EMC8|E7ETW5|J3KPI0|Q2KN33|Q59GN7|Q86X26|Q96PR5	Missense_Mutation	SNP	ENST00000324439.5	37	c.436C>A	CCDS3567.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959368	0.74016	.	.	ENSG00000163743	ENST00000324439;ENST00000451788;ENST00000380840;ENST00000512706;ENST00000513257;ENST00000507014	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	4.34	4.34	0.51931	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0;1.0	T	0.69045	-0.5249	10	0.87932	D	0	-10.7004	14.3909	0.66978	0.0:0.0:1.0:0.0	.	106;146;124;146;146;146	E7EMC8;Q2KN33;E7ETW5;Q96PM5-2;Q96PM5;G3FDP4	.;.;.;.;ZN363_HUMAN;.	T	146;146;106;124;146;106	ENSP00000321239:P146T;ENSP00000401041:P146T;ENSP00000370220:P106T;ENSP00000423976:P124T	ENSP00000321239:P146T	P	-	1	0	RCHY1	76636137	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.464000	0.73534	2.246000	0.74042	0.460000	0.39030	CCA		0.284	RCHY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252411.2	NM_015436		12	35	1	0	1.33834e-09	0.043863	1.96289e-09	12	35				
PDZD2	23037	broad.mit.edu	37	5	31983565	31983565	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr5:31983565G>A	ENST00000438447.1	+	3	1169	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	PDZD2_ENST00000282493.3_Missense_Mutation_p.G261S			O15018	PDZD2_HUMAN	PDZ domain containing 2	261					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACTTGGAAACGGCCATGTCTT	0.557																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(781-783)Ggc>Agc		PDZ domain containing 2							63.0	64.0	64.0					5																	31983565		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983565G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.781G>A	5.37:g.31983565G>A	ENSP00000402033:p.Gly261Ser					PDZD2_ENST00000282493.3_Missense_Mutation_p.G261S	p.G261S			O15018	PDZD2_HUMAN			3	1169	+			261					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.781G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.549927	0.27652	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07327	3.2;3.2	4.19	4.19	0.49359	.	0.000000	0.47852	D	0.000201	T	0.05227	0.0139	L	0.29908	0.895	0.34159	D	0.668478	P;B	0.48640	0.913;0.087	B;B	0.31191	0.125;0.032	T	0.33777	-0.9855	10	0.45353	T	0.12	.	12.329	0.55028	0.0:0.0:1.0:0.0	.	87;261	B4E3P2;O15018	.;PDZD2_HUMAN	S	261	ENSP00000402033:G261S;ENSP00000282493:G261S	ENSP00000282493:G261S	G	+	1	0	PDZD2	32019322	0.025000	0.19082	0.887000	0.34795	0.254000	0.26022	-0.246000	0.08878	2.620000	0.88729	0.650000	0.86243	GGC		0.557	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			4	74	0	0	0	0.009096	0	4	74				
TUBA3C	7278	broad.mit.edu	37	13	19748253	19748253	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr13:19748253A>T	ENST00000400113.3	-	5	1207	c.1103T>A	c.(1102-1104)cTg>cAg	p.L368Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	368					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CACCTTGGCCAGGTCTCCCCC	0.582																																						ENST00000400113.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72						c.(1102-1104)cTg>cAg		tubulin, alpha 3c							58.0	56.0	57.0					13																	19748253		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748253A>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1103T>A	13.37:g.19748253A>T	ENSP00000382982:p.Leu368Gln						p.L368Q	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1207	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	368					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1103T>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	a	11.73	1.725571	0.30593	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.85484	-1.99	1.22	1.22	0.21188	.	0.000000	0.38605	U	0.001636	D	0.85864	0.5796	.	.	.	0.45108	D	0.99812	.	.	.	.	.	.	D	0.84239	0.0471	7	0.87932	D	0	.	6.5693	0.22529	1.0:0.0:0.0:0.0	.	.	.	.	Q	368	ENSP00000382982:L368Q	ENSP00000354037:L368Q	L	-	2	0	TUBA3C	18646253	1.000000	0.71417	0.999000	0.59377	0.670000	0.39368	7.534000	0.82004	0.813000	0.34350	0.163000	0.16589	CTG		0.582	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		16	53	0	0	0	0.028581	0	16	53				
MTUS2	23281	broad.mit.edu	37	13	29600340	29600340	+	Missense_Mutation	SNP	T	T	A	rs199993580		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr13:29600340T>A	ENST00000431530.3	+	1	1593	c.1535T>A	c.(1534-1536)gTc>gAc	p.V512D		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	502						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCAAAGAGGTCACCACATCT	0.493																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1534-1536)gTc>gAc		microtubule associated tumor suppressor candidate 2		T	ASP/VAL	0,3958		0,0,1979	86.0	91.0	89.0		1535	0.6	0.0	13		89	4,8308		0,4,4152	yes	missense	MTUS2	NM_001033602.2	152	0,4,6131	AA,AT,TT		0.0481,0.0,0.0326	benign	512/1380	29600340	4,12266	1979	4156	6135	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600340T>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1535T>A	13.37:g.29600340T>A	ENSP00000392057:p.Val512Asp						p.V512D	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1593	+			502					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1535T>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	t	12.03	1.815657	0.32145	0.0	4.81E-4	ENSG00000132938	ENST00000431530	T	0.12569	2.67	5.92	0.654	0.17833	.	1.542390	0.03750	N	0.256352	T	0.07143	0.0181	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.23275	0.045	T	0.34428	-0.9829	9	.	.	.	.	4.0154	0.09641	0.0:0.3151:0.1835:0.5013	.	502	Q5JR59	MTUS2_HUMAN	D	512	ENSP00000392057:V512D	.	V	+	2	0	MTUS2	28498340	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.271000	0.08572	0.121000	0.18284	0.533000	0.62120	GTC		0.493	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		6	19	0	0	0	0.021553	0	6	19				
IL10RA	3587	broad.mit.edu	37	11	117864087	117864087	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr11:117864087T>C	ENST00000227752.3	+	4	619	c.499T>C	c.(499-501)Tat>Cat	p.Y167H	IL10RA_ENST00000545409.1_Missense_Mutation_p.Y18H|IL10RA_ENST00000541785.1_Missense_Mutation_p.Y147H|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	167					cytokine-mediated signaling pathway (GO:0019221)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-10 receptor activity (GO:0004920)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CTTCCGAGAGTATGAGATTGC	0.567																																						ENST00000227752.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19						c.(499-501)Tat>Cat		interleukin 10 receptor, alpha							91.0	81.0	84.0					11																	117864087		2200	4296	6496	SO:0001583	missense	3587					integral to membrane|plasma membrane	interleukin-10 receptor activity	g.chr11:117864087T>C	U00672	CCDS8388.1	11q23	2014-09-17			ENSG00000110324	ENSG00000110324		"""Interleukins and interleukin receptors"", ""CD molecules"""	5964	protein-coding gene	gene with protein product		146933		IL10R		8120391	Standard	NR_026691		Approved	HIL-10R, CDW210A, CD210a, CD210	uc001prv.3	Q13651	OTTHUMG00000166523	ENST00000227752.3:c.499T>C	11.37:g.117864087T>C	ENSP00000227752:p.Tyr167His					IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.Y147H|IL10RA_ENST00000545409.1_Missense_Mutation_p.Y18H	p.Y167H	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)	4	619	+	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	167					A8K6I0|B0YJ27	Missense_Mutation	SNP	ENST00000227752.3	37	c.499T>C	CCDS8388.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299383	0.81136	.	.	ENSG00000110324	ENST00000227752;ENST00000541785;ENST00000545409;ENST00000536858	T;T;T	0.61158	0.13;0.13;0.13	5.73	5.73	0.89815	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.277263	0.36591	N	0.002518	T	0.73830	0.3637	M	0.71581	2.175	0.34192	D	0.672172	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82950	-0.0203	10	0.72032	D	0.01	-18.2164	12.4071	0.55445	0.0:0.0:0.0:1.0	.	147;167	F5GYV8;Q13651	.;I10R1_HUMAN	H	167;147;18;147	ENSP00000227752:Y167H;ENSP00000441397:Y147H;ENSP00000443019:Y18H	ENSP00000227752:Y167H	Y	+	1	0	IL10RA	117369297	1.000000	0.71417	0.386000	0.26170	0.991000	0.79684	3.633000	0.54295	2.180000	0.69256	0.533000	0.62120	TAT		0.567	IL10RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390167.1			3	55	0	0	0	0.004672	0	3	55				
JAKMIP3	282973	broad.mit.edu	37	10	133949433	133949433	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr10:133949433G>T	ENST00000298622.4	+	5	1107		c.e5-1			NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3							Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TTGTCTTTCAGTTGAAGCGCG	0.507																																						ENST00000298622.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31						c.e5-1		Janus kinase and microtubule interacting protein 3							55.0	61.0	59.0					10																	133949433		2022	4173	6195	SO:0001630	splice_region_variant	282973							g.chr10:133949433G>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.970-1G>T	10.37:g.133949433G>T								NM_001105521.2	NP_001098991.1				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	5	1107	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Splice_Site	SNP	ENST00000298622.4	37		CCDS44494.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741026	0.49151	.	.	ENSG00000188385	ENST00000298622	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8328	0.85949	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	JAKMIP3	133799423	1.000000	0.71417	0.983000	0.44433	0.307000	0.27823	9.087000	0.94110	2.210000	0.71456	0.650000	0.86243	.		0.507	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303	Intron	3	12	1	0	0.004672	0.004672	0.006424	3	12				
CARD11	84433	broad.mit.edu	37	7	2984130	2984130	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr7:2984130C>T	ENST00000396946.4	-	5	803	c.400G>A	c.(400-402)Gag>Aag	p.E134K	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	134			E -> G (in PPBL; results in protein aggregation and constitutive NFKB activation). {ECO:0000269|PubMed:23129749}.		Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGATGACCTCGTTCATCAGG	0.602			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(400-402)Gag>Aag		caspase recruitment domain family, member 11							78.0	72.0	74.0					7																	2984130		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2984130C>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.400G>A	7.37:g.2984130C>T	ENSP00000380150:p.Glu134Lys					AC004906.3_ENST00000423194.1_RNA	p.E134K	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	5	803	-		Ovarian(82;0.0115)	134					A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.400G>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	34	5.293420	0.95546	.	.	ENSG00000198286	ENST00000396946	T	0.45668	0.89	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.69691	-0.5077	10	0.66056	D	0.02	-31.5717	17.0013	0.86382	0.0:1.0:0.0:0.0	.	134	Q9BXL7	CAR11_HUMAN	K	134	ENSP00000380150:E134K	ENSP00000380150:E134K	E	-	1	0	CARD11	2950656	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.071000	0.62044	0.655000	0.94253	GAG		0.602	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		12	39	0	0	0	0.080935	0	12	39				
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																						ENST00000445430.1																			0																																																			0							g.chr3:195400795C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400795C>T														0	1391	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	16	0	0	0	0.004672	0	3	16				
HIST1H2AI	8329	broad.mit.edu	37	6	27776019	27776019	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr6:27776019C>T	ENST00000358739.3	+	1	121	c.32C>T	c.(31-33)gCt>gTt	p.A11V	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2BL_ENST00000377401.2_5'Flank	NM_003509.2	NP_003500.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ai	11						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			lung(3)	3						GGAGGCAAAGCTCGCGCCAAG	0.547																																						ENST00000358739.3																			0				lung(3)	3						c.(31-33)gCt>gTt		histone cluster 1, H2ai							60.0	70.0	67.0					6																	27776019		2201	4300	6501	SO:0001583	missense	8329							g.chr6:27776019C>T	Z83742	CCDS4626.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196747	ENSG00000196747		"""Histones / Replication-dependent"""	4725	protein-coding gene	gene with protein product		602787	"""H2A histone family, member C"", ""histone 1, H2ai"""	H2AFC		9439656, 12408966	Standard	NM_003509		Approved	H2A/c		P0C0S8	OTTHUMG00000014484	ENST00000358739.3:c.32C>T	6.37:g.27776019C>T	ENSP00000351589:p.Ala11Val						p.A11V	NM_003509.2	NP_003500.1					1	121	+								P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000358739.3	37	c.32C>T	CCDS4626.1	.	.	.	.	.	.	.	.	.	.	.	13.48	2.251025	0.39797	.	.	ENSG00000196747	ENST00000358739	T	0.48522	0.81	4.34	4.34	0.51931	.	0.000000	0.39909	N	0.001232	T	0.40094	0.1103	.	.	.	0.35104	D	0.765483	.	.	.	.	.	.	T	0.37033	-0.9723	7	0.40728	T	0.16	.	10.4839	0.44711	0.0:0.908:0.0:0.092	.	.	.	.	V	11	ENSP00000351589:A11V	ENSP00000351589:A11V	A	+	2	0	HIST1H2AI	27883998	0.882000	0.30256	1.000000	0.80357	0.384000	0.30261	1.741000	0.38238	2.351000	0.79841	0.549000	0.68633	GCT		0.547	HIST1H2AI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040152.1	NM_003509		19	82	0	0	0	0.055883	0	19	82				
NLRP10	338322	broad.mit.edu	37	11	7982637	7982637	+	Silent	SNP	C	C	T			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr11:7982637C>T	ENST00000328600.2	-	2	683	c.522G>A	c.(520-522)tcG>tcA	p.S174S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	174	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGTGCCAGCCGACCCCTGTA	0.542																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(520-522)tcG>tcA		NLR family, pyrin domain containing 10							52.0	54.0	53.0					11																	7982637		2201	4296	6497	SO:0001819	synonymous_variant	338322						ATP binding	g.chr11:7982637C>T	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.522G>A	11.37:g.7982637C>T							p.S174S	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	683	-			174			NACHT.		Q2M3C4|Q6JGT0	Silent	SNP	ENST00000328600.2	37	c.522G>A	CCDS7784.1																																																																																				0.542	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		6	28	0	0	0	0.021553	0	6	28				
POGZ	23126	broad.mit.edu	37	1	151377502	151377515	+	Frame_Shift_Del	DEL	TAATGTTGCCATCG	TAATGTTGCCATCG	-	rs545762626		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:151377502_151377515delTAATGTTGCCATCG	ENST00000271715.2	-	19	4310_4323	c.3996_4009delCGATGGCAACATTA	c.(3994-4011)cccgatggcaacattaacfs	p.DGNIN1333fs	POGZ_ENST00000531094.1_Frame_Shift_Del_p.DGNIN1271fs|POGZ_ENST00000540984.1_Frame_Shift_Del_p.DGNIN695fs|POGZ_ENST00000361398.3_Frame_Shift_Del_p.DGNIN1280fs|POGZ_ENST00000392723.1_Frame_Shift_Del_p.DGNIN1280fs|POGZ_ENST00000368863.2_Frame_Shift_Del_p.DGNIN1238fs|POGZ_ENST00000409503.1_Frame_Shift_Del_p.DGNIN1324fs|POGZ_ENST00000491586.1_Frame_Shift_Del_p.DGNIN1289fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1333					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCA	0.542											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(3994-4011)ccacfs		pogo transposable element with ZNF domain																																				SO:0001589	frameshift_variant	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377502_151377515delTAATGTTGCCATCG	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3996_4009delCGATGGCAACATTA	1.37:g.151377502_151377515delTAATGTTGCCATCG	ENSP00000271715:p.Asp1333fs		OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1739	POGZ_ENST00000368863.2_Frame_Shift_Del_p.PDGNIN1237fs|POGZ_ENST00000540984.1_Frame_Shift_Del_p.PDGNIN694fs|POGZ_ENST00000531094.1_Frame_Shift_Del_p.PDGNIN1270fs|POGZ_ENST00000491586.1_Frame_Shift_Del_p.PDGNIN1288fs|POGZ_ENST00000409503.1_Frame_Shift_Del_p.PDGNIN1323fs|POGZ_ENST00000392723.1_Frame_Shift_Del_p.PDGNIN1279fs|POGZ_ENST00000361398.3_Frame_Shift_Del_p.PDGNIN1279fs	p.PDGNIN1332fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	4310_4323	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1332					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Frame_Shift_Del	DEL	ENST00000271715.2	37	c.3996_4009delCGATGGCAACATTA	CCDS997.1																																																																																				0.542	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		7	35						7	35	---	---	---	---
YWHAQ	10971	broad.mit.edu	37	2	9731521	9731522	+	Splice_Site	INS	-	-	TT			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr2:9731521_9731522insTT	ENST00000381844.4	-	2	580_581	c.417_418insAA	c.(415-420)aaacaa>aaaAAcaa	p.Q140fs	YWHAQ_ENST00000238081.3_Splice_Site_p.Q140fs|YWHAQ_ENST00000474715.1_5'UTR			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	140					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		ATAAACTTACGTTTTCGATCAT	0.381																																						ENST00000381844.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.e2+1		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide																																				SO:0001630	splice_region_variant	10971				negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding	g.chr2:9731521_9731522insTT	AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"""protein tau"""	609009	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"""			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.418+1->AA	2.37:g.9731524_9731525dupTT						YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Splice_Site_p.N140_splice	p.N140_splice			P27348	1433T_HUMAN		Epithelial(75;0.241)	2	580_581	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		140					D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Splice_Site	INS	ENST00000381844.4	37	c.418_splice	CCDS1666.1																																																																																				0.381	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039014.4	NM_006826	Frame_Shift_Ins	18	50						18	50	---	---	---	---
IRF4	3662	broad.mit.edu	37	6	397161	397161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:397161delC	ENST00000380956.4	+	5	672	c.546delC	c.(544-546)gtcfs	p.V182fs	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	182					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGGACTACGTCCCGGATCAGC	0.567			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(544-546)gtfs		interferon regulatory factor 4							110.0	115.0	113.0					6																	397161		2203	4300	6503	SO:0001589	frameshift_variant	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:397161delC	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.546delC	6.37:g.397161delC	ENSP00000370343:p.Val182fs					IRF4_ENST00000495137.1_3'UTR	p.V182fs	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	672	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	182					Q5VUI7|Q99660	Frame_Shift_Del	DEL	ENST00000380956.4	37	c.546delC	CCDS4469.1																																																																																				0.567	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			25	119						25	119	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206177	13206177	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:13206177delG	ENST00000379350.1	+	7	924	c.795delG	c.(793-795)aagfs	p.K265fs	PHACTR1_ENST00000457702.2_Frame_Shift_Del_p.K120fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Del_p.K265fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	265					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CAGCCCAGAAGAGTGGCCAGC	0.627																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(793-795)aafs		phosphatase and actin regulator 1							52.0	61.0	58.0					6																	13206177		2082	4198	6280	SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206177delG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.795delG	6.37:g.13206177delG	ENSP00000368655:p.Lys265fs					PHACTR1_ENST00000457702.2_Frame_Shift_Del_p.K120fs|PHACTR1_ENST00000332995.7_Frame_Shift_Del_p.K265fs|PHACTR1_ENST00000379345.2_Intron	p.K265fs			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	924	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	265					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Del	DEL	ENST00000379350.1	37	c.795delG																																																																																					0.627	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		18	58						18	58	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21882351	21882351	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr7:21882351delT	ENST00000409508.3	+	66	10912	c.10881delT	c.(10879-10881)gatfs	p.D3627fs	DNAH11_ENST00000328843.6_Frame_Shift_Del_p.D3634fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3634	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAGGCCAGATTTGGAGAAAC	0.423									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(10900-10902)gafs		dynein, axonemal, heavy chain 11							34.0	32.0	32.0					7																	21882351		1889	4125	6014	SO:0001589	frameshift_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21882351delT	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10881delT	7.37:g.21882351delT	ENSP00000475939:p.Asp3627fs					DNAH11_ENST00000409508.3_Frame_Shift_Del_p.D3627fs	p.D3634fs			Q96DT5	DYH11_HUMAN			67	10933	+			3634			AAA 5 (By similarity).		Q9UJ82	Frame_Shift_Del	DEL	ENST00000409508.3	37	c.10902delT																																																																																					0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		2	4						2	4	---	---	---	---
POGZ	23126	broad.mit.edu	37	1	151377502	151377515	+	Frame_Shift_Del	DEL	TAATGTTGCCATCG	TAATGTTGCCATCG	-	rs545762626		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr1:151377502_151377515delTAATGTTGCCATCG	ENST00000271715.2	-	19	4310_4323	c.3996_4009delCGATGGCAACATTA	c.(3994-4011)cccgatggcaacattaacfs	p.DGNIN1333fs	POGZ_ENST00000531094.1_Frame_Shift_Del_p.DGNIN1271fs|POGZ_ENST00000540984.1_Frame_Shift_Del_p.DGNIN695fs|POGZ_ENST00000361398.3_Frame_Shift_Del_p.DGNIN1280fs|POGZ_ENST00000392723.1_Frame_Shift_Del_p.DGNIN1280fs|POGZ_ENST00000368863.2_Frame_Shift_Del_p.DGNIN1238fs|POGZ_ENST00000409503.1_Frame_Shift_Del_p.DGNIN1324fs|POGZ_ENST00000491586.1_Frame_Shift_Del_p.DGNIN1289fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1333					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCA	0.542											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000271715.2																			0				NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47						c.(3994-4011)ccacfs		pogo transposable element with ZNF domain																																				SO:0001589	frameshift_variant	23126				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding	g.chr1:151377502_151377515delTAATGTTGCCATCG	AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3996_4009delCGATGGCAACATTA	1.37:g.151377502_151377515delTAATGTTGCCATCG	ENSP00000271715:p.Asp1333fs		OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1739	POGZ_ENST00000409503.1_Frame_Shift_Del_p.PDGNIN1323fs|POGZ_ENST00000540984.1_Frame_Shift_Del_p.PDGNIN694fs|POGZ_ENST00000361398.3_Frame_Shift_Del_p.PDGNIN1279fs|POGZ_ENST00000531094.1_Frame_Shift_Del_p.PDGNIN1270fs|POGZ_ENST00000491586.1_Frame_Shift_Del_p.PDGNIN1288fs|POGZ_ENST00000368863.2_Frame_Shift_Del_p.PDGNIN1237fs|POGZ_ENST00000392723.1_Frame_Shift_Del_p.PDGNIN1279fs	p.PDGNIN1332fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		19	4310_4323	-	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1332					B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Frame_Shift_Del	DEL	ENST00000271715.2	37	c.3996_4009delCGATGGCAACATTA	CCDS997.1																																																																																				0.542	POGZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034915.2	NM_207171		7	35						7	35	---	---	---	---
YWHAQ	10971	broad.mit.edu	37	2	9731521	9731522	+	Splice_Site	INS	-	-	TT			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr2:9731521_9731522insTT	ENST00000381844.4	-	2	580_581	c.417_418insAA	c.(415-420)aaacaa>aaaAAcaa	p.Q140fs	YWHAQ_ENST00000238081.3_Splice_Site_p.Q140fs|YWHAQ_ENST00000474715.1_5'UTR			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta	140					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		ATAAACTTACGTTTTCGATCAT	0.381																																						ENST00000381844.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.e2+1		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide																																				SO:0001630	splice_region_variant	10971				negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding	g.chr2:9731521_9731522insTT	AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"""protein tau"""	609009	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"""			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.418+1->AA	2.37:g.9731524_9731525dupTT						YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Splice_Site_p.N140_splice	p.N140_splice			P27348	1433T_HUMAN		Epithelial(75;0.241)	2	580_581	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		140					D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Splice_Site	INS	ENST00000381844.4	37	c.418_splice	CCDS1666.1																																																																																				0.381	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039014.4	NM_006826	Frame_Shift_Ins	18	50						18	50	---	---	---	---
IRF4	3662	broad.mit.edu	37	6	397161	397161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr6:397161delC	ENST00000380956.4	+	5	672	c.546delC	c.(544-546)gtcfs	p.V182fs	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	182					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGGACTACGTCCCGGATCAGC	0.567			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(544-546)gtfs		interferon regulatory factor 4							110.0	115.0	113.0					6																	397161		2203	4300	6503	SO:0001589	frameshift_variant	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:397161delC	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.546delC	6.37:g.397161delC	ENSP00000370343:p.Val182fs					IRF4_ENST00000495137.1_3'UTR	p.V182fs	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	5	672	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	182					Q5VUI7|Q99660	Frame_Shift_Del	DEL	ENST00000380956.4	37	c.546delC	CCDS4469.1																																																																																				0.567	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			25	119						25	119	---	---	---	---
PHACTR1	221692	broad.mit.edu	37	6	13206177	13206177	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr6:13206177delG	ENST00000379350.1	+	7	924	c.795delG	c.(793-795)aagfs	p.K265fs	PHACTR1_ENST00000457702.2_Frame_Shift_Del_p.K120fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Del_p.K265fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	265					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CAGCCCAGAAGAGTGGCCAGC	0.627																																						ENST00000379350.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26						c.(793-795)aafs		phosphatase and actin regulator 1							52.0	61.0	58.0					6																	13206177		2082	4198	6280	SO:0001589	frameshift_variant	221692					cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	g.chr6:13206177delG	AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.795delG	6.37:g.13206177delG	ENSP00000368655:p.Lys265fs					PHACTR1_ENST00000457702.2_Frame_Shift_Del_p.K120fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Frame_Shift_Del_p.K265fs	p.K265fs			Q9C0D0	PHAR1_HUMAN	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)		7	924	+	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	265					A8K1V2|Q3MJ93|Q5JSJ2	Frame_Shift_Del	DEL	ENST00000379350.1	37	c.795delG																																																																																					0.627	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420		18	58						18	58	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21882351	21882351	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	63935545-e28d-4a83-8cfa-8ca0fee47da7	g.chr7:21882351delT	ENST00000409508.3	+	66	10912	c.10881delT	c.(10879-10881)gatfs	p.D3627fs	DNAH11_ENST00000328843.6_Frame_Shift_Del_p.D3634fs	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3634	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAGGCCAGATTTGGAGAAAC	0.423									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(10900-10902)gafs		dynein, axonemal, heavy chain 11							34.0	32.0	32.0					7																	21882351		1889	4125	6014	SO:0001589	frameshift_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21882351delT	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10881delT	7.37:g.21882351delT	ENSP00000475939:p.Asp3627fs					DNAH11_ENST00000409508.3_Frame_Shift_Del_p.D3627fs	p.D3634fs			Q96DT5	DYH11_HUMAN			67	10933	+			3634			AAA 5 (By similarity).		Q9UJ82	Frame_Shift_Del	DEL	ENST00000409508.3	37	c.10902delT																																																																																					0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		2	4						2	4	---	---	---	---
